Trang chủ
Tài liệu nghiên cứu Y học
Search Journal
Search Article
Search by Auth
Category
All Category
Biomedicine
Biochem,Gene&Molecular Biology
Computer Science
Public Health
Medicine & Public Health
Medicine Public Health
Immunology and Microbiology
From
2026
2025
2024
2023
2022
2021
2020
2019
2018
2017
2016
2015
2014
2013
2012
2011
2010
To
2026
2025
2024
2023
2022
2021
2020
2019
2018
2017
2016
2015
2014
2013
2012
2011
2010
Human Genetics
Last issue
All issues
All articles
Search
Volume 138, October 2019, Issue 10, Pages 1071-1200
Previous vol/issue
Next vol/issue
1. A truncating CLDN9 variant is associated with autosomal recessive nonsyndromic hearing loss
Download PDF
Tác giả
Claire J. Sineni, Muzeyyen Yildirim-Baylan, Shengru Guo.
2. Novel truncation mutations in MYRF cause autosomal dominant high hyperopia mapped to 11p12–q13.3
Download PDF
Tác giả
Xueshan Xiao, Wenmin Sun, Jiamin Ouyang, Shiqiang Li, Xiaoyun Jia.
3. Genetic associations of breast and prostate cancer are enriched for regulatory elements identified in disease-related tissues
Download PDF
Tác giả
Hongjie Chen, Gleb Kichaev, Stephanie A. Bien, James W. MacDonald.
4. COL4A1 mutations as a potential novel cause of autosomal dominant CAKUT in humans
Download PDF
Tác giả
Thomas M. Kitzler, Ronen Schneider, Stefan Kohl, Caroline M. Kolvenbach.
5. Autosomal recessive diseases among the Israeli Arabs
Download PDF
Tác giả
Joël Zlotogora.
6. Runs of homozygosity in sub-Saharan African populations provide insights into complex demographic histories
Download PDF
Tác giả
Francisco C. Ceballos, Scott Hazelhurst, Michèle Ramsay.
7. Correction to: Runs of homozygosity in sub-Saharan African populations provide insights into complex demographic histories
Download PDF
Tác giả
Francisco C. Ceballos, Scott Hazelhurst, Michèle Ramsay.
8. The rare 13q33–q34 microdeletions: eight new patients and review of the literature
Download PDF
Tác giả
Lena Sagi-Dain, Yael Goldberg, Amir Peleg, Rivka Sukenik-Halevy.
9. Ancestry-specific polygenic scores and SNP heritability of 25(OH)D in African- and European-ancestry populations
Download PDF
Tác giả
Kathryn E. Hatchell, Qiongshi Lu, Scott J. Hebbring, Erin D. Michos.
10. Rare variants and loci for age-related macular degeneration in the Ohio and Indiana Amish
Download PDF
Tác giả
Andrea R. Waksmunski, Robert P. Igo Jr., Yeunjoo E. Song.
11. GPT2 mutations in autosomal recessive developmental disability: extending the clinical phenotype and population prevalence estimates
Download PDF
Tác giả
Qing Ouyang, Brian C. Kavanaugh, Lena Joesch-Cohen, Bethany Dubois.
