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Volume 135; Issue 12
Main
Human Genetics
Volume 135; Issue 12
Human Genetics
Volume 135; Issue 12
1
Whole exome sequencing of Rett syndrome-like patients reveals the mutational diversity of the clinical phenotype
Lucariello, Mario
,
Vidal, Enrique
,
Vidal, Silvia
,
Saez, Mauricio
,
Roa, Laura
,
Huertas, Dori
,
Pineda, Mercè
,
Dalfó, Esther
,
Dopazo, Joaquin
,
Jurado, Paola
,
Armstrong, Judith
,
Esteller, Manel
Journal:
Human Genetics
Year:
2016
Language:
english
File:
PDF, 1.09 MB
Your tags:
english, 2016
2
Copy-number variant analysis of classic heterotaxy highlights the importance of body patterning pathways
Hagen, Erin M.
,
Sicko, Robert J.
,
Kay, Denise M.
,
Rigler, Shannon L.
,
Dimopoulos, Aggeliki
,
Ahmad, Shabbir
,
Doleman, Margaret H.
,
Fan, Ruzong
,
Romitti, Paul A.
,
Browne, Marilyn L.
,
Caggana, Michele
,
B
Journal:
Human Genetics
Year:
2016
Language:
english
File:
PDF, 492 KB
Your tags:
english, 2016
3
A mutation inADIPOR1causes nonsyndromic autosomal dominant retinitis pigmentosa
Zhang, Jinlu
,
Wang, Changguan
,
Shen, Yan
,
Chen, Ningning
,
Wang, Likun
,
Liang, Ling
,
Guo, Tong
,
Yin, Xiaobei
,
Ma, Zhizhong
,
Zhang, Bo
,
Yang, Liping
Journal:
Human Genetics
Year:
2016
Language:
english
File:
PDF, 5.81 MB
Your tags:
english, 2016
4
De novo missense variants inPPP1CBare associated with intellectual disability and congenital heart disease
Ma, Lijiang
,
Bayram, Yavuz
,
McLaughlin, Heather M.
,
Cho, Megan T.
,
Krokosky, Alyson
,
Turner, Clesson E.
,
Lindstrom, Kristin
,
Bupp, Caleb P.
,
Mayberry, Katey
,
Mu, Weiyi
,
Bodurtha, Joann
,
Weinstein, Ver
Journal:
Human Genetics
Year:
2016
Language:
english
File:
PDF, 596 KB
Your tags:
english, 2016
5
Tooth agenesis and orofacial clefting: genetic brothers in arms?
Phan, M.
,
Conte, F.
,
Khandelwal, K. D.
,
Ockeloen, C. W.
,
Bartzela, T.
,
Kleefstra, T.
,
van Bokhoven, H.
,
Rubini, M.
,
Zhou, H.
,
Carels, C. E. L.
Journal:
Human Genetics
Year:
2016
Language:
english
File:
PDF, 1.21 MB
Your tags:
english, 2016
6
Associations of cytochrome P450 oxidoreductase genetic polymorphisms with smoking cessation in a Chinese population
Li, Huijie
,
Li, Suyun
,
Wang, Qiang
,
Jia, Chongqi
Journal:
Human Genetics
Year:
2016
Language:
english
File:
PDF, 2.76 MB
Your tags:
english, 2016
7
The disappearing San of southeastern Africa and their genetic affinities
Schlebusch, Carina M.
,
Prins, Frans
,
Lombard, Marlize
,
Jakobsson, Mattias
,
Soodyall, Himla
Journal:
Human Genetics
Year:
2016
Language:
english
File:
PDF, 1.91 MB
Your tags:
english, 2016
8
Multipoint genome-wide linkage scan for nonword repetition in a multigenerational family further supports chromosome 13q as a locus for verbal trait disorders
Truong, D. T.
,
Shriberg, L. D.
,
Smith, S. D.
,
Chapman, K. L.
,
Scheer-Cohen, A. R.
,
DeMille, M. M. C.
,
Adams, A. K.
,
Nato, A. Q.
,
Wijsman, E. M.
,
Eicher, J. D.
,
Gruen, J. R.
Journal:
Human Genetics
Year:
2016
Language:
english
File:
PDF, 869 KB
Your tags:
english, 2016
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