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Volume 136; Issue 6
Main
Human Genetics
Volume 136; Issue 6
Human Genetics
Volume 136; Issue 6
1
Genome-wide enrichment of damaging de novo variants in patients with isolated and complex congenital diaphragmatic hernia
Longoni, Mauro
,
High, Frances A.
,
Qi, Hongjian
,
Joy, Maliackal P.
,
Hila, Regis
,
Coletti, Caroline M.
,
Wynn, Julia
,
Loscertales, Maria
,
Shan, Linshan
,
Bult, Carol J.
,
Wilson, Jay M.
,
Shen, Yufeng
,
Chun
Journal:
Human Genetics
Year:
2017
Language:
english
File:
PDF, 1.52 MB
Your tags:
english, 2017
2
RareSLC1A1variants in hot water epilepsy
Karan, Kalpita Rashimi
,
Satishchandra, P.
,
Sinha, Sanjib
,
Anand, Anuranjan
Journal:
Human Genetics
Year:
2017
Language:
english
File:
PDF, 1.02 MB
Your tags:
english, 2017
3
Common genetic etiology between “multiple sclerosis-like” single-gene disorders and familial multiple sclerosis
Traboulsee, Anthony L.
,
Sadovnick, A. Dessa
,
Encarnacion, Mary
,
Bernales, Cecily Q.
,
Yee, Irene M.
,
Criscuoli, Maria G.
,
Vilariño-Güell, Carles
Journal:
Human Genetics
Year:
2017
Language:
english
File:
PDF, 824 KB
Your tags:
english, 2017
4
Erratum to: Complete mitochondrial genomes of Thai and Lao populations indicate an ancient origin of Austroasiatic groups and demic diffusion in the spread of Tai–Kadai languages
Kutanan, Wibhu
,
Kampuansai, Jatupol
,
Srikummool, Metawee
,
Kangwanpong, Daoroong
,
Ghirotto, Silvia
,
Brunelli, Andrea
,
Stoneking, Mark
Journal:
Human Genetics
Year:
2017
Language:
english
File:
PDF, 352 KB
Your tags:
english, 2017
5
Genetic associations with lipoprotein subfraction measures differ by ethnicity in the multi-ethnic study of atherosclerosis (MESA)
Wang, Zhe
,
Manichukal, Ani
,
Goff, David C.
,
Mora, Samia
,
Ordovas, Jose M.
,
Pajewski, Nicholas M.
,
Post, Wendy S.
,
Rotter, Jerome I.
,
Sale, Michele M.
,
Santorico, Stephanie A.
,
Siscovick, David
,
Tsai,
Journal:
Human Genetics
Year:
2017
Language:
english
File:
PDF, 492 KB
Your tags:
english, 2017
6
Sequential recruitment of study participants may inflate genetic heritability estimates
Noce, Damia
,
Gögele, Martin
,
Schwienbacher, Christine
,
Caprioli, Giulia
,
De Grandi, Alessandro
,
Foco, Luisa
,
Platzgummer, Stefan
,
Pramstaller, Peter P.
,
Pattaro, Cristian
Journal:
Human Genetics
Year:
2017
Language:
english
File:
PDF, 1.15 MB
Your tags:
english, 2017
7
A genome-wide study of Hardy–Weinberg equilibrium with next generation sequence data
Graffelman, Jan
,
Jain, Deepti
,
Weir, Bruce
Journal:
Human Genetics
Year:
2017
Language:
english
File:
PDF, 1.84 MB
Your tags:
english, 2017
8
The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies
Stenson, Peter D.
,
Mort, Matthew
,
Ball, Edward V.
,
Evans, Katy
,
Hayden, Matthew
,
Heywood, Sally
,
Hussain, Michelle
,
Phillips, Andrew D.
,
Cooper, David N.
Journal:
Human Genetics
Year:
2017
Language:
english
File:
PDF, 1.20 MB
Your tags:
english, 2017
9
Trans-ethnic fine-mapping of genetic loci for body mass index in the diverse ancestral populations of the Population Architecture using Genomics and Epidemiology (PAGE) Study reveals evidence for multiple signals at established loci
Fernández-Rhodes, Lindsay
,
Gong, Jian
,
Haessler, Jeffrey
,
Franceschini, Nora
,
Graff, Mariaelisa
,
Nishimura, Katherine K.
,
Wang, Yujie
,
Highland, Heather M.
,
Yoneyama, Sachiko
,
Bush, William S.
,
Goodlo
Journal:
Human Genetics
Year:
2017
Language:
english
File:
PDF, 3.81 MB
Your tags:
english, 2017
10
M.T. Dorak: Genetic association studies: background, conduct, analysis, interpretation
Richards, Alex
Journal:
Human Genetics
Year:
2017
Language:
english
File:
PDF, 354 KB
Your tags:
english, 2017
11
MutatedPET117causes complex IV deficiency and is associated with neurodevelopmental regression and medulla oblongata lesions
G. H. Renkema,G. Visser,F. Baertling,L. T. Wintjes,V. M. Wolters…
Journal:
Human Genetics
Year:
2017
Language:
english
File:
PDF, 3.14 MB
Your tags:
english, 2017
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