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Volume 131; Issue 3
Main
Human Genetics
Volume 131; Issue 3
Human Genetics
Volume 131; Issue 3
1
Expression signature of epidermolysis bullosa simplex
Mbarka Bchetnia
,
Marie-Lou Tremblay
,
Georgette Leclerc
,
Audrey Dupérée
,
Julie Powell
,
Catherine McCuaig
,
Charles Morin
,
Valérie Legendre-Guillemin
,
Catherine Laprise
Journal:
Human Genetics
Year:
2012
Language:
english
File:
PDF, 340 KB
Your tags:
english, 2012
2
Associations between gene polymorphisms in fatty acid metabolism pathway and preterm delivery in a US urban black population
Xin Liu
,
Guoying Wang
,
Xiumei Hong
,
Hui-Ju Tsai
,
Rong Liu
,
Shanchun Zhang
,
Hongjian Wang
,
Colleen Pearson
,
Katherin Ortiz
,
Deli Wang
,
Emmet Hirsch
,
Barry Zuckerman
,
Xiaobin Wang
Journal:
Human Genetics
Year:
2012
Language:
english
File:
PDF, 293 KB
Your tags:
english, 2012
3
The 18p11.22 locus is associated with never smoker non-small cell lung cancer susceptibility in Korean populations
Myung-Ju Ahn
,
Hong-Hee Won
,
Jeeyun Lee
,
Seung-Tae Lee
,
Jong-Mu Sun
,
Yeon Hee Park
,
Jin Seok Ahn
,
O Jung Kwon
,
Hojoong Kim
,
Young Mog Shim
,
Jhingook Kim
,
Kwhanmien Kim
,
Yeul Hong Kim
,
Jae Yong Park
,
Jo
Journal:
Human Genetics
Year:
2012
Language:
english
File:
PDF, 341 KB
Your tags:
english, 2012
4
Sex differences in disease risk from reported genome-wide association study findings
Linda Y. Liu
,
Marc A. Schaub
,
Marina Sirota
,
Atul J. Butte
Journal:
Human Genetics
Year:
2012
Language:
english
File:
PDF, 654 KB
Your tags:
english, 2012
5
Ion channels and schizophrenia: a gene set-based analytic approach to GWAS data for biological hypothesis testing
Kathleen Askland
,
Cynthia Read
,
Chloe O’Connell
,
Jason H. Moore
Journal:
Human Genetics
Year:
2012
Language:
english
File:
PDF, 658 KB
Your tags:
english, 2012
6
NovelAluretrotransposon insertion leading to Alström syndrome
Mustafa Taşkesen
,
Gayle B. Collin
,
Alexei V. Evsikov
,
Ayşegül Güzel
,
R. Köksal Özgül
,
Jan D. Marshall
,
Jürgen K. Naggert
Journal:
Human Genetics
Year:
2012
Language:
english
File:
PDF, 743 KB
Your tags:
english, 2012
7
High altitude adaptation in Daghestani populations from the Caucasus
Luca Pagani
,
Qasim Ayub
,
Daniel G. MacArthur
,
Yali Xue
,
J. Kenneth Baillie
,
Yuan Chen
,
Iwanka Kozarewa
,
Daniel J. Turner
,
Sergio Tofanelli
,
Kazima Bulayeva
,
Kenneth Kidd
,
Giorgio Paoli
,
Chris Tyler-Sm
Journal:
Human Genetics
Year:
2012
Language:
english
File:
PDF, 564 KB
Your tags:
english, 2012
8
Genetic mapping of an autosomal recessive postaxial polydactyly type A to chromosome 13q13.3–q21.2 and screening of the candidate genes
Umm-e-Kalsoom
,
Sulman Basit
,
Syed Kamran-ul-Hassan Naqvi
,
Muhammad Ansar
,
Wasim Ahmad
Journal:
Human Genetics
Year:
2012
Language:
english
File:
PDF, 393 KB
Your tags:
english, 2012
9
Exome sequencing identifiesGCDH(glutaryl-CoA dehydrogenase) mutations as a cause of a progressive form of early-onset generalized dystonia
Jose Felix Marti-Masso
,
Javier Ruiz-Martínez
,
Vladimir Makarov
,
Adolfo López de Munain
,
Ana Gorostidi
,
Alberto Bergareche
,
Seungtai Yoon
,
Joseph D. Buxbaum
,
Coro Paisán-Ruiz
Journal:
Human Genetics
Year:
2012
Language:
english
File:
PDF, 396 KB
Your tags:
english, 2012
10
Fine mapping of 14q24.1 breast cancer susceptibility locus
Phoebe Lee
,
Yi-Ping Fu
,
Jonine D. Figueroa
,
Ludmila Prokunina-Olsson
,
Jesus Gonzalez-Bosquet
,
Peter Kraft
,
Zhaoming Wang
,
Kevin B. Jacobs
,
Meredith Yeager
,
Marie-Josèphe Horner
,
Susan E. Hankinson
,
Am
Journal:
Human Genetics
Year:
2012
Language:
english
File:
PDF, 403 KB
Your tags:
english, 2012
11
Association study of theKCNJ3gene as a susceptibility candidate for schizophrenia in the Chinese population
Kazuo Yamada
,
Yoshimi Iwayama
,
Tomoko Toyota
,
Tetsuo Ohnishi
,
Hisako Ohba
,
Motoko Maekawa
,
Takeo Yoshikawa
Journal:
Human Genetics
Year:
2012
Language:
english
File:
PDF, 366 KB
Your tags:
english, 2012
12
SLC39A2andFSIP1polymorphisms as potential modifiers of arsenic-related bladder cancer
Margaret R. Karagas
,
Angeline S. Andrew
,
Heather H. Nelson
,
Zhongze Li
,
Tracy Punshon
,
Alan Schned
,
Carmen J. Marsit
,
J. Steven Morris
,
Jason H. Moore
,
Anna L. Tyler
,
Diane Gilbert-Diamond
,
Mary-Lou G
Journal:
Human Genetics
Year:
2012
Language:
english
File:
PDF, 389 KB
Your tags:
english, 2012
13
The genetics of kidney transplantation
Nicolas Pallet
,
Eric Thervet
Journal:
Human Genetics
Year:
2012
Language:
english
File:
PDF, 173 KB
Your tags:
english, 2012
14
Genome-wide association study identifies HMGN3 locus for spine bone size variation in Chinese
Shu-Feng Lei
,
Hui Shen
,
Tie-Lin Yang
,
Yan Guo
,
Shan-Shan Dong
,
Xiang-Hong Xu
,
Fei-Yan Deng
,
Qing Tian
,
Yong-Jun Liu
,
Yao-Zhong Liu
,
Jian Li
,
Hong-Wen Deng
Journal:
Human Genetics
Year:
2012
Language:
english
File:
PDF, 280 KB
Your tags:
english, 2012
15
Clinical utility of chromosomal microarray analysis in invasive prenatal diagnosis
Lluís Armengol
,
Julián Nevado
,
Clara Serra-Juhé
,
Alberto Plaja
,
Carmen Mediano
,
Fe Amalia García-Santiago
,
Manel García-Aragonés
,
Olaya Villa
,
Elena Mansilla
,
Cristina Preciado
,
Luis Fernández
,
María
Journal:
Human Genetics
Year:
2012
Language:
english
File:
PDF, 245 KB
Your tags:
english, 2012
16
Exome sequencing and subsequent association studies identify five amino acid-altering variants influencing human height
Jae-Jung Kim
,
Young-Mi Park
,
Kyu-Heum Baik
,
Hye-Yeon Choi
,
Gap-Seok Yang
,
InSong Koh
,
Jung-Ah Hwang
,
Jieun Lee
,
Yeon-Su Lee
,
Hwanseok Rhee
,
Tae Soo Kwon
,
Bok-Ghee Han
,
Karen E. Heath
,
Hiroshi Inoue
,
H
Journal:
Human Genetics
Year:
2012
Language:
english
File:
PDF, 290 KB
Your tags:
english, 2012
17
Review of Aaron Gillette, Eugenics and the nature–nurture debate in the twentieth century 2007, paperback edition, 2011, New York: Palgrave Macmillan
John Dupré
Journal:
Human Genetics
Year:
2012
Language:
english
File:
PDF, 78 KB
Your tags:
english, 2012
18
Functional analysis of Waardenburg syndrome-associatedPAX3andSOX10mutations: report of a dominant-negativeSOX10mutation in Waardenburg syndrome type II
Hua Zhang
,
Hongsheng Chen
,
Hunjin Luo
,
Jing An
,
Lin Sun
,
Lingyun Mei
,
Chufeng He
,
Lu Jiang
,
Wen Jiang
,
Kun Xia
,
Jia-Da Li
,
Yong Feng
Journal:
Human Genetics
Year:
2012
Language:
english
File:
PDF, 662 KB
Your tags:
english, 2012
19
Associations between common variants inGCandDHCR7/NADSYN1and vitamin D concentration in Chinese Hans
Ling Lu
,
Hongguang Sheng
,
Huaixing Li
,
Wei Gan
,
Chen Liu
,
Jingwen Zhu
,
Ruth J. F. Loos
,
Xu Lin
Journal:
Human Genetics
Year:
2012
Language:
english
File:
PDF, 240 KB
Your tags:
english, 2012
20
Facioscapulohumeral muscular dystrophy (FSHD): an enigma unravelled?
Mark Richards
,
Frédérique Coppée
,
Nick Thomas
,
Alexandra Belayew
,
Meena Upadhyaya
Journal:
Human Genetics
Year:
2012
Language:
english
File:
PDF, 980 KB
Your tags:
english, 2012
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