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

Results: 10

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
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
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
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
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
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
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