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Volume 135; Issue 11
Main
Human Genetics
Volume 135; Issue 11
Human Genetics
Volume 135; Issue 11
1
Whole-genome sequencing in French Canadians from Quebec
Low-Kam, Cécile
,
Rhainds, David
,
Lo, Ken Sin
,
Provost, Sylvie
,
Mongrain, Ian
,
Dubois, Anick
,
Perreault, Sylvie
,
Robinson, John F.
,
Hegele, Robert A.
,
Dubé, Marie-Pierre
,
Tardif, Jean-Claude
,
Lettre, G
Journal:
Human Genetics
Year:
2016
Language:
english
File:
PDF, 723 KB
Your tags:
english, 2016
2
Association of kidney structure-related gene variants with type 2 diabetes-attributed end-stage kidney disease in African Americans
Guan, Meijian
,
Ma, Jun
,
Keaton, Jacob M.
,
Dimitrov, Latchezar
,
Mudgal, Poorva
,
Stromberg, Mary
,
Bonomo, Jason A.
,
Hicks, Pamela J.
,
Freedman, Barry I.
,
Bowden, Donald W.
,
Ng, Maggie C. Y.
Journal:
Human Genetics
Year:
2016
Language:
english
File:
PDF, 565 KB
Your tags:
english, 2016
3
ANKS3is mutated in a family with autosomal recessive laterality defect
Shamseldin, Hanan E.
,
Yakulov, Toma Antonov
,
Hashem, Amal
,
Walz, Gerd
,
Alkuraya, Fowzan S.
Journal:
Human Genetics
Year:
2016
Language:
english
File:
PDF, 1.64 MB
Your tags:
english, 2016
4
Genome-wide scans reveal variants atEDARpredominantly affecting hair straightness in Han Chinese and Uyghur populations
Wu, Sijie
,
Tan, Jingze
,
Yang, Yajun
,
Peng, Qianqian
,
Zhang, Manfei
,
Li, Jinxi
,
Lu, Dongsheng
,
Liu, Yu
,
Lou, Haiyi
,
Feng, Qidi
,
Lu, Yan
,
Guan, Yaqun
,
Zhang, Zhaoxia
,
Jiao, Yi
,
Sabeti, Pardis
,
Krutmann,
Journal:
Human Genetics
Year:
2016
Language:
english
File:
PDF, 1.23 MB
Your tags:
english, 2016
5
Mutation in SLC6A9 encoding a glycine transporter causes a novel form of non-ketotic hyperglycinemia in humans
Alfadhel, Majid
,
Nashabat, Marwan
,
Qahtani, Hanan Al
,
Alfares, Ahmed
,
Mutairi, Fuad Al
,
Shaalan, Hesham Al
,
Douglas, Ganka V.
,
Wierenga, Klaas
,
Juusola, Jane
,
Alrifai, Muhammad Talal
,
Arold, Stefan T.
Journal:
Human Genetics
Year:
2016
Language:
english
File:
PDF, 718 KB
Your tags:
english, 2016
6
Identification of susceptibility gene associated with female primary Sjögren’s syndrome in Han Chinese by genome-wide association study
Song, I-Wen
,
Chen, Hsiang-Cheng
,
Lin, Yuh-Feng
,
Yang, Jenn-Hwai
,
Chang, Chi-Ching
,
Chou, Chung-Tei
,
Lee, Ming-Ta Michael
,
Chou, Yi-Chun
,
Chen, Chien-Hsiun
,
Chen, Yuan-Tsong
,
Chen, Chen-Hung
,
Wu, Jer-Y
Journal:
Human Genetics
Year:
2016
Language:
english
File:
PDF, 979 KB
Your tags:
english, 2016
7
Multiple rare variants in high-risk pancreatic cancer-related genes may increase risk for pancreatic cancer in a subset of patients with and without germlineCDKN2Amutations
Yang, Xiaohong R.
,
Rotunno, Melissa
,
Xiao, Yanzi
,
Ingvar, Christian
,
Helgadottir, Hildur
,
Pastorino, Lorenza
,
van Doorn, Remco
,
Bennett, Hunter
,
Graham, Cole
,
Sampson, Joshua N.
,
Malasky, Michael
,
Vog
Journal:
Human Genetics
Year:
2016
Language:
english
File:
PDF, 475 KB
Your tags:
english, 2016
8
HomozygousKCNMA1mutation as a cause of cerebellar atrophy, developmental delay and seizures
Tabarki, Brahim
,
AlMajhad, Nabil
,
AlHashem, Amal
,
Shaheen, Ranad
,
Alkuraya, Fowzan S.
Journal:
Human Genetics
Year:
2016
Language:
english
File:
PDF, 616 KB
Your tags:
english, 2016
9
FUS-linked essential tremor associated with motor dysfunction inDrosophila
Tio, Murni
,
Wen, Rujing
,
Lim, Yih Lin
,
Wang, Huashan
,
Ling, Shuo-Chien
,
Zhao, Yi
,
Tan, Eng-King
Journal:
Human Genetics
Year:
2016
Language:
english
File:
PDF, 949 KB
Your tags:
english, 2016
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