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Human Genetics
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Volume 138, December 2019, Issue 11-12, Pages 1201-1421
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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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
11. Differential phenotypic expression of a novel PDHA1 mutation in a female monozygotic twin pair
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Alejandro Horga, Catherine E. Woodward, Alberto Mills, Isabel Pareés.
12. A novel homozygous RTEL1 variant in a consanguineous Lebanese family: phenotypic heterogeneity and disease anticipation
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Fernanda Gutierrez-Rodrigues, Nohad Masri, Eliane Chouery, Carrie Diamond.
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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Antonella De Lillo, Flavio De Angelis, Marco Di Girolamo, Marco Luigetti.
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.
15. The genetic landscape of the human solute carrier (SLC) transporter superfamily
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Tác giả
Lena Schaller, Volker M. Lauschke.
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.
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.
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.
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.
