Volume 132; Issue 8

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Human Genetics
Volume 132; Issue 8

Human Genetics

Volume 132; Issue 8

1

Exome sequencing reveals CCDC111 mutation associated with high myopia

Zhao, Fuxin, Wu, Jinyu, Xue, Anquan, Su, Yanfeng, Wang, Xiaojing, Lu, Xianmin, Zhou, Zhonglou, Qu, Jia, Zhou, Xiangtian

Journal:

Year:

2013

Language:

english

File:

PDF, 421 KB

english, 2013

2

BET1LandTNRC6Bassociate with uterine fibroid risk among European Americans

Edwards, Todd L., Michels, Kara A., Hartmann, Katherine E., Velez Edwards, Digna R.

Journal:

Year:

2013

Language:

english

File:

PDF, 260 KB

english, 2013

3

The complex genetic landscape of familial breast cancer

Lorenzo Melchor, Javier Benítez

Journal:

Year:

2013

Language:

english

File:

PDF, 590 KB

english, 2013

4

Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy

Jan Halbritter, Jonathan D. Porath, Katrina A. Diaz, Daniela A. Braun…

Journal:

Year:

2013

Language:

english

File:

PDF, 362 KB

english, 2013

5

Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome

J. C. Czeschik, C. Voigt, Y. Alanay, B. Albrecht, S. Avci, D. FitzPatrick…

Journal:

Year:

2013

Language:

english

File:

PDF, 629 KB

english, 2013

6

Comprehensively identifying and characterizing the missing gene sequences in human reference genome with integrated analytic approaches

Geng Chen, Charles Wang, Leming Shi, Weida Tong, Xiongfei Qu, Jiwei Chen…

Journal:

Year:

2013

Language:

english

File:

PDF, 585 KB

english, 2013

7

Mouse models of fukutin-related protein mutations show a wide range of disease phenotypes

Anthony Blaeser, Elizabeth Keramaris, Yiumo M. Chan, Susan Sparks…

Journal:

Year:

2013

Language:

english

File:

PDF, 2.02 MB

english, 2013

8

Maternal coding variants in complement receptor 1 and spontaneous idiopathic preterm birth

Jude J. McElroy, Courtney E. Gutman, Christian M. Shaffer…

Journal:

Year:

2013

Language:

english

File:

PDF, 301 KB

english, 2013

9

Nathaniel Comfort: The science of human perfection, how genes became the heart of American Medicine

Shirley Hodgson

Journal:

Year:

2013

Language:

english

File:

PDF, 77 KB

english, 2013

10

Erratum to: Identity-by-descent-based heritability analysis in the Northern Finland Birth Cohort

Sharon R. Browning, Brian L. Browning

Journal:

Year:

2013

Language:

english

File:

PDF, 106 KB

english, 2013