Volume 135; Issue 12

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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:

Year:

2016

Language:

english

File:

PDF, 1.09 MB

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:

Year:

2016

Language:

english

File:

PDF, 492 KB

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:

Year:

2016

Language:

english

File:

PDF, 5.81 MB

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:

Year:

2016

Language:

english

File:

PDF, 596 KB

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:

Year:

2016

Language:

english

File:

PDF, 1.21 MB

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:

Year:

2016

Language:

english

File:

PDF, 2.76 MB

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:

Year:

2016

Language:

english

File:

PDF, 1.91 MB

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:

Year:

2016

Language:

english

File:

PDF, 869 KB

english, 2016