Works matching IS 03406717 AND DT 2013 AND VI 132 AND IP 8

Results: 10

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

Published in:

2013

By:

Hodgson, Shirley

Publication type:

Book Review

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

Published in:

2013

By:

Browning, Sharon;
Browning, Brian

Publication type:

Correction Notice

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

Published in:

Human Genetics, 2013, v. 132, n. 8, p. 899, doi. 10.1007/s00439-013-1300-9

By:

Chen, Geng;
Wang, Charles;
Shi, Leming;
Tong, Weida;
Qu, Xiongfei;
Chen, Jiwei;
Yang, Jianmin;
Shi, Caiping;
Chen, Long;
Zhou, Peiying;
Lu, Bingxin;
Shi, Tieliu

Publication type:

Article

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

Published in:

Human Genetics, 2013, v. 132, n. 8, p. 885, doi. 10.1007/s00439-013-1295-2

By:

Czeschik, J.;
Voigt, C.;
Alanay, Y.;
Albrecht, B.;
Avci, S.;
FitzPatrick, D.;
Goudie, D.;
Hehr, U.;
Hoogeboom, A.;
Kayserili, H.;
Simsek-Kiper, P.;
Klein-Hitpass, L.;
Kuechler, A.;
López-González, V.;
Martin, M.;
Rahmann, S.;
Schweiger, B.;
Splitt, M.;
Wollnik, B.;
Lüdecke, H.

Publication type:

Article

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

Published in:

Human Genetics, 2013, v. 132, n. 8, p. 923, doi. 10.1007/s00439-013-1302-7

By:

Blaeser, Anthony;
Keramaris, Elizabeth;
Chan, Yiumo;
Sparks, Susan;
Cowley, Dale;
Xiao, Xiao;
Lu, Qi

Publication type:

Article

Exome sequencing reveals CCDC111 mutation associated with high myopia.

Published in:

Human Genetics, 2013, v. 132, n. 8, p. 913, doi. 10.1007/s00439-013-1303-6

By:

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

Publication type:

Article

BET1L and TNRC6B associate with uterine fibroid risk among European Americans.

Published in:

Human Genetics, 2013, v. 132, n. 8, p. 943, doi. 10.1007/s00439-013-1306-3

By:

Edwards, Todd;
Michels, Kara;
Hartmann, Katherine;
Velez Edwards, Digna

Publication type:

Article

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

Published in:

Human Genetics, 2013, v. 132, n. 8, p. 935, doi. 10.1007/s00439-013-1304-5

By:

McElroy, Jude;
Gutman, Courtney;
Shaffer, Christian;
Busch, Tamara;
Puttonen, Hilkka;
Teramo, Kari;
Murray, Jeffrey;
Hallman, Mikko;
Muglia, Louis

Publication type:

Article

The complex genetic landscape of familial breast cancer.

Published in:

Human Genetics, 2013, v. 132, n. 8, p. 845, doi. 10.1007/s00439-013-1299-y

By:

Melchor, Lorenzo;
Benítez, Javier

Publication type:

Article

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

Published in:

Human Genetics, 2013, v. 132, n. 8, p. 865, doi. 10.1007/s00439-013-1297-0

By:

Halbritter, Jan;
Porath, Jonathan;
Diaz, Katrina;
Braun, Daniela;
Kohl, Stefan;
Chaki, Moumita;
Allen, Susan;
Soliman, Neveen;
Hildebrandt, Friedhelm;
Otto, Edgar

Publication type:

Article