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Volume 131; Issue 2
Main
Human Genetics
Volume 131; Issue 2
Human Genetics
Volume 131; Issue 2
1
Meta-analysis of new genome-wide association studies of colorectal cancer risk
Ulrike Peters
,
Carolyn M. Hutter
,
Li Hsu
,
Fredrick R. Schumacher
,
David V. Conti
,
Christopher S. Carlson
,
Christopher K. Edlund
,
Robert W. Haile
,
Steven Gallinger
,
Brent W. Zanke
,
Mathieu Lemire
,
Jaga
Journal:
Human Genetics
Year:
2012
Language:
english
File:
PDF, 421 KB
Your tags:
english, 2012
2
Preimplantation genetic diagnosis: State of the ART 2011
Joyce C. Harper
,
Sioban B. SenGupta
Journal:
Human Genetics
Year:
2012
Language:
english
File:
PDF, 289 KB
Your tags:
english, 2012
3
Mitochondrial DNA and inflammatory diseases
Germaine Escames
,
Luis Carlos López
,
José Antonio García
,
Laura García-Corzo
,
Francisco Ortiz
,
Darío Acuña-Castroviejo
Journal:
Human Genetics
Year:
2012
Language:
english
File:
PDF, 427 KB
Your tags:
english, 2012
4
A novel transcript of cyclin-dependent kinase-like 5 (CDKL5) has an alternative C-terminus and is the predominant transcript in brain
Sarah L. Williamson
,
Laura Giudici
,
Charlotte Kilstrup-Nielsen
,
Wendy Gold
,
Gregory J. Pelka
,
Patrick P. L. Tam
,
Andrew Grimm
,
Dionigio Prodi
,
Nicoletta Landsberger
,
John Christodoulou
Journal:
Human Genetics
Year:
2012
Language:
english
File:
PDF, 910 KB
Your tags:
english, 2012
5
Mitochondrial Haplogroup X is associated with successful aging in the Amish
Monique D. Courtenay
,
John R. Gilbert
,
Lan Jiang
,
Anna C. Cummings
,
Paul J. Gallins
,
Laura Caywood
,
Lori Reinhart-Mercer
,
Denise Fuzzell
,
Claire Knebusch
,
Renee Laux
,
Jacob L. McCauley
,
Charles E. Jac
Journal:
Human Genetics
Year:
2012
Language:
english
File:
PDF, 208 KB
Your tags:
english, 2012
6
An Alu repeat-mediated genomicGCNT2deletion underlies congenital cataracts and adult i blood group
Guntram Borck
,
Naseebullah Kakar
,
Jochen Hoch
,
Katrin Friedrich
,
Jan Freudenberg
,
Gudrun Nürnberg
,
Rüstem Yilmaz
,
Shakeela Daud
,
Dost Muhammad Baloch
,
Peter Nürnberg
,
Johannes Oldenburg
,
Jamil Ahmad
,
Journal:
Human Genetics
Year:
2012
Language:
english
File:
PDF, 476 KB
Your tags:
english, 2012
7
The cell adhesion genePVRL3is associated with congenital ocular defects
Salil A. Lachke
,
Anne W. Higgins
,
Maiko Inagaki
,
Irfan Saadi
,
Qiongchao Xi
,
Michelle Long
,
Bradley J. Quade
,
Michael E. Talkowski
,
James F. Gusella
,
Atsuko Fujimoto
,
Michael L. Robinson
,
Ying Yang
,
Qu
Journal:
Human Genetics
Year:
2012
Language:
english
File:
PDF, 1.35 MB
Your tags:
english, 2012
8
Analysis of family- and population-based samples in cohort genome-wide association studies
Ani Manichaikul
,
Wei-Min Chen
,
Kayleen Williams
,
Quenna Wong
,
Michèle M. Sale
,
James S. Pankow
,
Michael Y. Tsai
,
Jerome I. Rotter
,
Stephen S. Rich
,
Josyf C. Mychaleckyj
Journal:
Human Genetics
Year:
2012
Language:
english
File:
PDF, 497 KB
Your tags:
english, 2012
9
The impact ofConversoJews on the genomes of modern Latin Americans
C. Velez
,
P. F. Palamara
,
J. Guevara-Aguirre
,
L. Hao
,
T. Karafet
,
M. Guevara-Aguirre
,
A. Pearlman
,
C. Oddoux
,
M. Hammer
,
E. Burns
,
I. Pe’er
,
G. Atzmon
,
H. Ostrer
Journal:
Human Genetics
Year:
2012
Language:
english
File:
PDF, 476 KB
Your tags:
english, 2012
10
SuccessfulCOG8andPDFoverlap is mediated by alterations in splicing and polyadenylation signals
Isabel Pereira-Castro
,
Rita Quental
,
Luís T. da Costa
,
António Amorim
,
Luisa Azevedo
Journal:
Human Genetics
Year:
2012
Language:
english
File:
PDF, 861 KB
Your tags:
english, 2012
11
Functional haplotypes of Fc gamma (Fcγ) receptor (FcγRIIA and FcγRIIIB) predict risk to repeated episodes of severe malarial anemia and mortality in Kenyan children
Collins Ouma
,
Gregory C. Davenport
,
Steven Garcia
,
Prakasha Kempaiah
,
Ateefa Chaudhary
,
Tom Were
,
Samuel B. Anyona
,
Evans Raballah
,
Stephen N. Konah
,
James B. Hittner
,
John M. Vulule
,
John M. Ong’echa
Journal:
Human Genetics
Year:
2012
Language:
english
File:
PDF, 387 KB
Your tags:
english, 2012
12
Missense substitutions in the GAS1 protein present in holoprosencephaly patients reduce the affinity for its ligand, SHH
Daniel E. Pineda-Alvarez
,
Erich Roessler
,
Ping Hu
,
Kshitij Srivastava
,
Benjamin D. Solomon
,
C. Evan Siple
,
Chen-Ming Fan
,
Maximilian Muenke
Journal:
Human Genetics
Year:
2012
Language:
english
File:
PDF, 402 KB
Your tags:
english, 2012
13
Michelle Webb (ed): Cancer Susceptibility: Methods and Protocols
Abeer Alsaegh
,
Diana M. Eccles
Journal:
Human Genetics
Year:
2012
Language:
english
File:
PDF, 90 KB
Your tags:
english, 2012
14
Studies in a consanguineous family reveal a novel locus for stuttering on chromosome 16q
Muhammad Hashim Raza
,
Rana Amjad
,
Sheikh Riazuddin
,
Dennis Drayna
Journal:
Human Genetics
Year:
2012
Language:
english
File:
PDF, 155 KB
Your tags:
english, 2012
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