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Human Genetics
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1. Long-read sequencing in deciphering human genetics to a greater depth
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Tác giả
Mohit K. Midha, Mengchu Wu, Kuo-Ping Chiu.
1. A truncating CLDN9 variant is associated with autosomal recessive nonsyndromic hearing loss
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Tác giả
Claire J. Sineni, Muzeyyen Yildirim-Baylan, Shengru Guo.
1. Editorial to the special issue on “Molecular Genetics of Developmental Eye Disorders”
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Tác giả
Nicola Ragge, Patrick Calvas, Nicolas Chassaing.
1. Mind the gap: resources required to receive, process and interpret research-returned whole genome data
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Tác giả
Dana C. Crawford, Jessica N. Cooke Bailey, Farren B. S. Briggs.
1. A review of gene-by-air pollution interactions for cardiovascular disease, risk factors, and biomarkers
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Tác giả
Cavin K. Ward-Caviness.
1. Special issue on canine genetics: animal models for human disease and gene therapies, new discoveries for canine inherited diseases, and standards and guidelines for clinical genetic testing for domestic dogs
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Tác giả
Lisa G. Shaffer.
1. How to increase our belief in discovered statistical interactions via large-scale association studies?
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Tác giả
K. Van Steen, J. H. Moore.
1. Gene panel sequencing identifies a likely monogenic cause in 7% of 235 Pakistani families with nephrolithiasis
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Tác giả
Ali Amar, Amar J. Majmundar, Ihsan Ullah, Ayesha Afzal, Daniela A. Braun.
1. Translating cancer genomics into precision medicine with artificial intelligence: applications, challenges and future perspectives
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Tác giả
Jia Xu, Pengwei Yang, Shang Xue, Bhuvan Sharma, Marta Sanchez-Martin.
1. Ways of improving precise knock-in by genome-editing technologies
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Tác giả
Svetlana A. Smirnikhina, Arina A. Anuchina, Alexander V. Lavrov.
2. CRISPR/Cas9 facilitates genomic editing for large-scale functional studies in pluripotent stem cell cultures
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Tác giả
Xiao-Fei Li, Yong-Wei Zhou, Peng-Fei Cai, Wei-Cong Fu, Jin-Hua Wang.
2. Novel truncation mutations in MYRF cause autosomal dominant high hyperopia mapped to 11p12–q13.3
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Tác giả
Xueshan Xiao, Wenmin Sun, Jiamin Ouyang, Shiqiang Li, Xiaoyun Jia.
2. Perspective Topical Collection Through the looking glass: eye anomalies in the age of molecular science
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Tác giả
Patrick Calvas, Elias I. Traboulsi, Nicola Ragge.
2. Exome sequencing of cases with neural tube defects identifies candidate genes involved in one-carbon/vitamin B12 metabolisms and Sonic Hedgehog pathway
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Tác giả
Emeline Renard, Céline Chéry, Abderrahim Oussalah, Thomas Josse.
2. Therapeutic application of the CRISPR system: current issues and new prospects
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Tác giả
Minyoung Lee, Hyongbum Kim.
2. Natural models for retinitis pigmentosa: progressive retinal atrophy in dog breeds
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Tác giả
Morgane Bunel, Gilles Chaudieu, Christian Hamel, Laetitia Lagoutte.
2. Genetic variant predictors of gene expression provide new insight into risk of colorectal cancer
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Tác giả
Stephanie A. Bien, Yu-Ru Su, David V. Conti, Tabitha A. Harrison.
2. NUP214 deficiency causes severe encephalopathy and microcephaly in humans
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Tác giả
Hanan E. Shamseldin, Nawal Makhseed, Niema Ibrahim, Tarfa Al-Sheddi.
2. New insights into the genetics of spermatogenic failure: a review of the literature
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Tác giả
Rossella Cannarella, Rosita A. Condorelli, Ylenia Duca, Sandro La Vignera.
2. Delineation of LZTR1 mutation-positive patients with Noonan syndrome and identification of LZTR1 binding to RAF1–PPP1CB complexes
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Tác giả
Ikumi Umeki, Tetsuya Niihori, Taiki Abe, Shin-ichiro Kanno.
3. Rare variants in FANCA induce premature ovarian insufficiency
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Tác giả
Xi Yang, Xiaojin Zhang, Jiao Jiao, Feng Zhang, Yuncheng Pan, Qiqi Wang.
3. Genetic associations of breast and prostate cancer are enriched for regulatory elements identified in disease-related tissues
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Tác giả
Hongjie Chen, Gleb Kichaev, Stephanie A. Bien, James W. MacDonald.
3. Genetics of anophthalmia and microphthalmia. Part 1: Non-syndromic anophthalmia/microphthalmia
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Tác giả
J. Plaisancié, F. Ceroni, R. Holt, C. Zazo Seco, P. Calvas, N. Chassaing.
3. Paired involvement of human-specific Olduvai domains and NOTCH2NL genes in human brain evolution
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Tác giả
Ian T. Fiddes, Alex A. Pollen, Jonathan M. Davis, James M. Sikela.
3. Correction to: Therapeutic application of the CRISPR system: current issues and new prospects
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Tác giả
Minyoung Lee, Hyongbum Kim.
3. Canine neuropathies: powerful spontaneous models for human hereditary sensory neuropathies
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Tác giả
Solenne Correard, Jocelyn Plassais, Laëtitia Lagoutte, Nadine Botherel.
3. Novel mutations in ZP1, ZP2, and ZP3 cause female infertility due to abnormal zona pellucida formation
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Tác giả
Zhou Zhou, Caixia Ni, Ling Wu, Biaobang Chen, Yao Xu, Zhihua Zhang.
3. PUS7 mutations impair pseudouridylation in humans and cause intellectual disability and microcephaly
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Tác giả
Ranad Shaheen, Monika Tasak, Sateesh Maddirevula, Ghada M. H. Abdel-Salam.
3. Whole-genome sequencing identifies complex contributions to genetic risk by variants in genes causing monogenic systemic lupus erythematosus
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Tác giả
Jonas Carlsson Almlöf, Sara Nystedt, Dag Leonard, Maija-Leena Eloranta.
3. Genetic association and differential expression of PITX2 with acute appendicitis
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Tác giả
Ekaterina Orlova, Andrew Yeh, Min Shi, Brian Firek.
4. Trust in genomic data sharing among members of the general public in the UK, USA, Canada and Australia
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Tác giả
Richard Milne, Katherine I. Morley, Heidi Howard, Emilia Niemiec.
4. COL4A1 mutations as a potential novel cause of autosomal dominant CAKUT in humans
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Tác giả
Thomas M. Kitzler, Ronen Schneider, Stefan Kohl, Caroline M. Kolvenbach.
4. Genetics of anophthalmia and microphthalmia. Part 2: Syndromes associated with anophthalmia–microphthalmia
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Tác giả
Anne Slavotinek.
4. A commonly occurring genetic variant within the NPLOC4–TSPAN10–PDE6G gene cluster is associated with the risk of strabismus
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Tác giả
Denis Plotnikov, Rupal L. Shah, Jamille N. Rodrigues.
4. Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly
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Tác giả
Irfan Ullah, Naseebullah Kakar, Isabelle Schrauwen, Shabir Hussain.
4. Personalized medicine: going to the dogs?
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Tác giả
Katrina L. Mealey, Stephanie E. Martinez, Nicolas F. Villarino.
4. Genome-wide scans of myopia in Pennsylvania Amish families reveal significant linkage to 12q15, 8q21.3 and 5p15.33
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Tác giả
Anthony M. Musolf, Claire L. Simpson, Theresa A. Alexander, Laura Portas.
4. Complete sequencing of the SMN2 gene in SMA patients detects SMN gene deletion junctions and variants in SMN2 that modify the SMA phenotype
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Tác giả
Corey Ruhno, Vicki L. McGovern, Matthew R. Avenarius, Pamela J. Snyder.
4. LncRNA ZBTB40-IT1 modulated by osteoporosis GWAS risk SNPs suppresses osteogenesis
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Tác giả
Bing Mei, Ya Wang, Weiyuan Ye, Han Huang, Qian Zhou, Yuanyuan Chen.
4. The contribution of parent-to-offspring transmission of telomeres to the heritability of telomere length in humans
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Tác giả
Dayana A. Delgado, Chenan Zhang, Kevin Gleason, Kathryn Demanelis.
5. MDH1 deficiency is a metabolic disorder of the malate–aspartate shuttle associated with early onset severe encephalopathy
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Tác giả
Melissa H. Broeks, Hanan E. Shamseldin, Amal Alhashem, Mais Hashem.
5. Autosomal recessive diseases among the Israeli Arabs
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Tác giả
Joël Zlotogora.
5. Genetic landscape of isolated pediatric cataracts: extreme heterogeneity and variable inheritance patterns within genes
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Tác giả
Linda M. Reis, Elena V. Semina.
5. Estimation of metabolic syndrome heritability in three large populations including full pedigree and genomic information
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Tác giả
Francesca Graziano, Ginevra Biino, Maria Teresa Bonati, Benjamin M. Neale.
5. Whole-exome sequencing identified four loci influencing craniofacial morphology in northern Han Chinese
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Tác giả
Wei Wu, Guiying Zhai, Zejun Xu, Bo Hou, Dahua Liu, Tianyi Liu, Wei Liu.
5. Gene therapies in canine models for Duchenne muscular dystrophy
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Tác giả
Peter P. Nghiem, Joe N. Kornegay.
5. Molybdenum cofactor deficiency type B knock-in mouse models carrying patient-identical mutations and their rescue by singular AAV injections
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Tác giả
Jochen Reiss.
5. Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein–Taybi syndrome: the interconnections of epigenetic machinery disorders
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Tác giả
Gloria Negri, Pamela Magini, Donatella Milani, Milena Crippa.
5. Integrative genomic analysis predicts novel functional enhancer-SNPs for bone mineral density
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Tác giả
Chuan Qiu, Hui Shen, Xiaoying Fu, Chao Xu, Qing Tian, Hongwen Deng.
5. De novo and inherited loss-of-function variants of ATP2B2 are associated with rapidly progressive hearing impairment
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Tác giả
Jeroen J. Smits, Jaap Oostrik, Andy J. Beynon, Sarina G. Kant.
6. Biallelic variants in AGMO with diminished enzyme activity are associated with a neurodevelopmental disorder
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Tác giả
Volkan Okur, Katrin Watschinger, Dmitriy Niyazov, Julie McCarrier.
6. Runs of homozygosity in sub-Saharan African populations provide insights into complex demographic histories
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Tác giả
Francisco C. Ceballos, Scott Hazelhurst, Michèle Ramsay.
6. An update on the genetics of ocular coloboma
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Tác giả
Aisha S. ALSomiry, Cheryl Y. Gregory-Evans, Kevin Gregory-Evans.
6. Observation of novel COX20 mutations related to autosomal recessive axonal neuropathy and static encephalopathy
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Tác giả
Hongliang Xu, Tuo Ji, Yajun Lian, Shuya Wang, Xin Chen, Shuang Li.
6. Mutation signatures in germline mitochondrial genome provide insights into human mitochondrial evolution and disease
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Tác giả
Xiwen Gu, Xinyun Kang, Jiankang Liu.
6. Correction to: Gene therapies in canine models for Duchenne muscular dystrophy
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Tác giả
Peter P. Nghiem, Joe N. Kornegay.
6. Targeted panel sequencing establishes the implication of planar cell polarity pathway and involves new candidate genes in neural tube defect disorders
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Tác giả
Marie Beaumont, Linda Akloul, Wilfrid Carré, Chloé Quélin, Hubert Journel.
6. Shared genetic architecture between metabolic traits and Alzheimer’s disease: a large-scale genome-wide cross-trait analysis
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Tác giả
Zhaozhong Zhu, Yifei Lin, Xihao Li, Jane A. Driver, Liming Liang.
6. Mutations in ACTL6B, coding for a subunit of the neuron-specific chromatin remodeling complex nBAF, cause early onset severe developmental and epileptic encephalopathy with brain hypomyelination and cerebellar atrophy
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Tác giả
Marco Fichera, Pinella Failla, Lucia Saccuzzo, Martina Miceli.
6. Ultra-deep amplicon sequencing indicates absence of low-grade mosaicism with normal cells in patients with type-1 NF1 deletions
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Tác giả
Anna Summerer, Eleonora Schäfer, Victor-Felix Mautner, Ludwine Messiaen.
7. Mutant GNLY is linked to Stevens–Johnson syndrome and toxic epidermal necrolysis
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Tác giả
Dora Janeth Fonseca, Luz Adriana Caro, Diana Carolina Sierra-Díaz.
7. Correction to: Runs of homozygosity in sub-Saharan African populations provide insights into complex demographic histories
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Tác giả
Francisco C. Ceballos, Scott Hazelhurst, Michèle Ramsay.
7. The genetic architecture of aniridia and Gillespie syndrome
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Tác giả
Hildegard Nikki Hall, Kathleen A. Williamson, David R. FitzPatrick.
7. Misassembly of long reads undermines de novo-assembled ethnicity-specific genomes: validation in a Chinese Han population
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Tác giả
Zhibiao Mai, Wanting Liu, Wen Ding, Gong Zhang.
7. Biallelic variants in SMAD6 are associated with a complex cardiovascular phenotype
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Tác giả
Katja Kloth, Tatjana Bierhals, Jessika Johannsen, Frederike L. Harms.
7. Standards and guidelines for canine clinical genetic testing laboratories
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Tác giả
Lisa G. Shaffer, Kyle Sundin, Anja Geretschlaeger, Julia Segert.
7. The metabolic network coherence of human transcriptomes is associated with genetic variation at the cadherin 18 locus
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Tác giả
Kristina Schlicht, Piotr Nyczka, Amke Caliebe, Sandra Freitag-Wolf.
7. A response to “Personalised medicine and population health: breast and ovarian cancer”
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Tác giả
Antonis Antoniou, Hoda Anton-Culver, Alexander Borowsky.
7. Leveraging linkage evidence to identify low-frequency and rare variants on 16p13 associated with blood pressure using TOPMed whole genome sequencing data
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Tác giả
Karen Y. He, Xiaoyin Li, Tanika N. Kelly, Jingjing Liang, Brian E. Cade.
7. Whole-exome sequencing reveals SALL4 variants in premature ovarian insufficiency: an update on genotype–phenotype correlations
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Tác giả
Qiqi Wang, Da Li, Baozhu Cai, Qing Chen, Caihua Li, Yanhua Wu, Li Jin.
8. Characterization of GJB2 cis-regulatory elements in the DFNB1 locus
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Tác giả
Stéphanie Moisan, Anaïs Le Nabec, Alicia Quillévéré, Cédric Le Maréchal.
8. The rare 13q33–q34 microdeletions: eight new patients and review of the literature
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Tác giả
Lena Sagi-Dain, Yael Goldberg, Amir Peleg, Rivka Sukenik-Halevy.
8. Phenotype–genotype correlations and emerging pathways in ocular anterior segment dysgenesis
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Tác giả
A. S. Ma, J. R. Grigg, R. V. Jamieson.
8. Skipping of an exon with a nonsense mutation in the DMD gene is induced by the conversion of a splicing enhancer to a splicing silencer
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Tác giả
Yanrong Zhu, Huiting Deng, Xiangfa Chen, Hui Li, Cheng Yang, Shuo Li.
8. Prediction of skin color, tanning and freckling from DNA in Polish population: linear regression, random forest and neural network approaches
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Tác giả
Katarzyna Zaorska, Piotr Zawierucha, Michał Nowicki.
8. Quality assurance checklist and additional considerations for canine clinical genetic testing laboratories: a follow-up to the published standards and guidelines
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Tác giả
Lisa G. Shaffer, Anja Geretschlaeger, Christina J. Ramirez.
8. Estimating carrier frequencies of newborn screening disorders using a whole-genome reference panel of 3552 Japanese individuals
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Tác giả
Yumi Yamaguchi-Kabata, Jun Yasuda, Akira Uruno, Kazuro Shimokawa.
8. Author response to “a response to ‘personalised medicine and population health: breast and ovarian cancer’”
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Tác giả
Steven A. Narod.
8. Downregulation of genes outside the deleted region in individuals with 22q11.2 deletion syndrome
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Tác giả
Anelisa Gollo Dantas, Marcos Leite Santoro, Natalia Nunes.
9. Legacy samples in Finnish biobanks: social and legal issues related to the transfer of old sample collections into biobanks
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Tác giả
Marjut Salokannel, Heta Tarkkala, Karoliina Snell.
9. Ancestry-specific polygenic scores and SNP heritability of 25(OH)D in African- and European-ancestry populations
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Tác giả
Kathryn E. Hatchell, Qiongshi Lu, Scott J. Hebbring, Erin D. Michos.
9. The hedgehog pathway and ocular developmental anomalies
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Tác giả
Florencia Cavodeassi, Sophie Creuzet, Heather C. Etchevers.
9. Jürgen W. Spranger, Paula W. Brill, Christine Hall, Gen Nishimura, Andrea Superti-Furga, and Sheila Unger: Bone dysplasias: an atlas of genetic disorders of skeletal development
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Tác giả
Sarah Smithson.
9. Identification of placental genes linked to selective intrauterine growth restriction (IUGR) in dichorionic twin pregnancies: gene expression profiling study
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Tác giả
Lidia Biesiada, Agata Sakowicz, Mariusz Grzesiak, Maciej Borowiec.
9. A glycine transporter SLC6A5 frameshift mutation causes startle disease in Spanish greyhounds
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Tác giả
Sarah C. Murphy, Alfredo Recio, Cristian de la Fuente, Ling T. Guo.
9. Genetic kinship and admixture in Iron Age Scytho-Siberians
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Tác giả
Laura Mary, Vincent Zvénigorosky, Alexey Kovalev, Angéla Gonzalez.
9. A novel ISLR2-linked autosomal recessive syndrome of congenital hydrocephalus, arthrogryposis and abdominal distension
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Tác giả
Anas M. Alazami, Sateesh Maddirevula, Mohamed Zain Seidahmed.
10. Association of rare non-coding SNVs in the lung-specific FOXF1 enhancer with a mitigation of the lethal ACDMPV phenotype
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Tác giả
Przemyslaw Szafranski, Qian Liu, Justyna A. Karolak, Xiaofei Song.
10. Rare variants and loci for age-related macular degeneration in the Ohio and Indiana Amish
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Tác giả
Andrea R. Waksmunski, Robert P. Igo Jr., Yeunjoo E. Song.
10. Genetic architecture of retinoic-acid signaling-associated ocular developmental defects
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Tác giả
B. Nedelec, J.-M. Rozet, L. Fares Taie.
10. Correction to: Genetic variant predictors of gene expression provide new insight into risk of colorectal cancer
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Tác giả
Stephanie A. Bien, Yu-Ru Su, David V. Conti, Tabitha A. Harrison.
10. De novo emergence and potential function of human-specific tandem repeats in brain-related loci
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Tác giả
Kwondo Kim, Sohyun Bang, DongAhn Yoo, Heebal Kim, Shunsuke Suzuki.
10. A missense variant in the titin gene in Doberman pinscher dogs with familial dilated cardiomyopathy and sudden cardiac death
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Tác giả
Kathryn M. Meurs, Steven G. Friedenberg, Justin Kolb, Chandra Saripalli.
10. On the relationship between the heritability and the attributable fraction
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Tác giả
Elisabeth Dahlqwist, Patrik K. E. Magnusson, Yudi Pawitan.
11. Differential phenotypic expression of a novel PDHA1 mutation in a female monozygotic twin pair
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Tác giả
Alejandro Horga, Catherine E. Woodward, Alberto Mills, Isabel Pareés.
11. GPT2 mutations in autosomal recessive developmental disability: extending the clinical phenotype and population prevalence estimates
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Tác giả
Qing Ouyang, Brian C. Kavanaugh, Lena Joesch-Cohen, Bethany Dubois.
11. Non-coding RNAs in retinal development and function
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Tác giả
Marianthi Karali, Sandro Banfi.
11. Gene pathogenicity prediction of Mendelian diseases via the random forest algorithm
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Tác giả
Sijie He, Weiwei Chen, Hankui Liu, Shengting Li, Dongzhu Lei, Xiao Dang.
11. Canine models of human amelogenesis imperfecta: identification of novel recessive ENAM and ACP4 variants
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Tác giả
Marjo K. Hytönen, Meharji Arumilli, Eva Sarkiala, Pekka Nieminen.
12. A novel homozygous RTEL1 variant in a consanguineous Lebanese family: phenotypic heterogeneity and disease anticipation
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Tác giả
Fernanda Gutierrez-Rodrigues, Nohad Masri, Eliane Chouery, Carrie Diamond.
12. Human eye conditions: insights from the fly eye
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Tác giả
Pedro Gaspar, Isabel Almudi, Maria D. S. Nunes, Alistair P. McGregor.
12. EDAR, LYPLAL1, PRDM16, PAX3, DKK1, TNFSF12, CACNA2D3, and SUPT3H gene variants influence facial morphology in a Eurasian population
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Tác giả
Yi Li, Wenting Zhao, Dan Li, Xianming Tao, Ziyi Xiong, Jing Liu.
12. A frameshift insertion in SGK3 leads to recessive hairlessness in Scottish Deerhounds: a candidate gene for human alopecia conditions
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Tác giả
Marjo K. Hytönen, Hannes Lohi.
13. Phenome-wide association study of TTR and RBP4 genes in 361,194 individuals reveals novel insights in the genetics of hereditary and wildtype transthyretin amyloidoses
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Tác giả
Antonella De Lillo, Flavio De Angelis, Marco Di Girolamo, Marco Luigetti.
13. Looking to the future of zebrafish as a model to understand the genetic basis of eye disease
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Tác giả
Florencia Cavodeassi, Stephen W. Wilson.
13. Predicting copper toxicosis: relationship between the ATP7A and ATP7B gene mutations and hepatic copper quantification in dogs
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Tác giả
Sharon Pindar, Christina Ramirez.
14. First genome-wide association study of non-severe malaria in two birth cohorts in Benin
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Tác giả
Jacqueline Milet, Anne Boland, Pierre Luisi, Audrey Sabbagh.
14. Genetics of congenital eye malformations: insights from chick experimental embryology
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Tác giả
Paola Bovolenta, Juan-Ramón Martinez-Morales.
15. The genetic landscape of the human solute carrier (SLC) transporter superfamily
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Tác giả
Lena Schaller, Volker M. Lauschke.
15. Mouse models for microphthalmia, anophthalmia and cataracts
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Tác giả
Jochen Graw.
16. Mutational signatures and mutagenic impacts associated with betel quid chewing in oral squamous cell carcinoma
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Tác giả
Shih-Chi Su, Lun-Ching Chang, Chiao-Wen Lin, Mu-Kuan Chen, Chun-Ping Yu.
16. Prospects and modalities for the treatment of genetic ocular anomalies
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Tác giả
Cheryl Y. Gregory-Evans, Xia Wang, Kevin Gregory-Evans.
17. High-throughput transcriptome analysis reveals that the loss of Pten activates a novel NKX6-1/RASGRP1 regulatory module to rescue microphthalmia caused by Fgfr2-deficient lenses
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Tác giả
Stephanie L. Padula, Deepti Anand, Thanh V. Hoang, Blake R. Chaffee.
17. New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies
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Tác giả
Fabiola Ceroni, Domingo Aguilera-Garcia, Nicolas Chassaing.
18. Compound heterozygous mutations in SNAP29 is associated with Pelizaeus-Merzbacher-like disorder (PMLD)
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Tác giả
Lorida Llaci, Keri Ramsey, Newell Belnap, Ana M. Claasen, Chris D. Balak.
18. Congenital glaucoma and CYP1B1: an old story revisited
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Tác giả
Hessa S. Alsaif, Arif O. Khan, Nisha Patel, Hisham Alkuraya, Mais Hashem.
19. Arteriovenous malformation associated with a HRAS mutation
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Tác giả
Dennis J. Konczyk, Jeremy A. Goss, Patrick J. Smits, August Y. Huang.
19. Expanding the phenotype of the X-linked BCOR microphthalmia syndromes
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Tác giả
Nicola Ragge, Bertrand Isidor, Pierre Bitoun, Sylvie Odent, Irina Giurgea.
