Works matching IS 03406717 AND DT 2019 AND VI 138 AND IP 7

Results: 10

Jürgen W. Spranger, Paula W. Brill, Christine Hall, Gen Nishimura, Andrea Superti-Furga, and Sheila Unger: Bone dysplasias: an atlas of genetic disorders of skeletal development: Fourth Edition, ISBN: 9780190626655.

Published in:

Human Genetics, 2019, v. 138, n. 7, p. 787, doi. 10.1007/s00439-019-02038-0

By:

Smithson, Sarah

Publication type:

Article

Skipping of an exon with a nonsense mutation in the DMD gene is induced by the conversion of a splicing enhancer to a splicing silencer.

Published in:

Human Genetics, 2019, v. 138, n. 7, p. 771, doi. 10.1007/s00439-019-02036-2

By:

Zhu, Yanrong;
Deng, Huiting;
Chen, Xiangfa;
Li, Hui;
Yang, Cheng;
Li, Shuo;
Pan, Xiaoying;
Tian, Siqi;
Feng, Shuxin;
Tan, Xiaoyue;
Matsuo, Masafumi;
Zhang, Zhujun

Publication type:

Article

Mind the gap: resources required to receive, process and interpret research-returned whole genome data.

Published in:

Human Genetics, 2019, v. 138, n. 7, p. 691, doi. 10.1007/s00439-019-02033-5

By:

Crawford, Dana C.;
Cooke Bailey, Jessica N.;
Briggs, Farren B. S.

Publication type:

Article

Misassembly of long reads undermines de novo-assembled ethnicity-specific genomes: validation in a Chinese Han population.

Published in:

Human Genetics, 2019, v. 138, n. 7, p. 757, doi. 10.1007/s00439-019-02032-6

By:

Mai, Zhibiao;
Liu, Wanting;
Ding, Wen;
Zhang, Gong

Publication type:

Article

Correction to: Genetic variant predictors of gene expression provide new insight into risk of colorectal cancer.

Published in:

2019

By:

Bien, Stephanie A.;
Su, Yu-Ru;
Conti, David V.;
Harrison, Tabitha A.;
Qu, Conghui;
Guo, Xingyi;
Lu, Yingchang;
Albanes, Demetrius;
Auer, Paul L.;
Banbury, Barbara L.;
Berndt, Sonja I.;
Bézieau, Stéphane;
Brenner, Hermann;
Buchanan, Daniel D.;
Caan, Bette J.;
Campbell, Peter T.;
Carlson, Christopher S.;
Chan, Andrew T.;
Chang-Claude, Jenny;
Chen, Sai

Publication type:

Correction Notice

Exome sequencing of cases with neural tube defects identifies candidate genes involved in one-carbon/vitamin B12 metabolisms and Sonic Hedgehog pathway.

Published in:

Human Genetics, 2019, v. 138, n. 7, p. 703, doi. 10.1007/s00439-019-02015-7

By:

Renard, Emeline;
Chéry, Céline;
Oussalah, Abderrahim;
Josse, Thomas;
Perrin, Pascal;
Tramoy, Denise;
Voirin, Jimmy;
Klein, Olivier;
Leheup, Bruno;
Feillet, François;
Guéant-Rodriguez, Rosa-Maria;
Guéant, Jean-Louis

Publication type:

Article

Estimation of metabolic syndrome heritability in three large populations including full pedigree and genomic information.

Published in:

Human Genetics, 2019, v. 138, n. 7, p. 739, doi. 10.1007/s00439-019-02024-6

By:

Graziano, Francesca;
Biino, Ginevra;
Bonati, Maria Teresa;
Neale, Benjamin M.;
Do, Ron;
Concas, Maria Pina;
Vaccargiu, Simona;
Pirastu, Mario;
Terradura-Vagnarelli, Oscar;
Cirillo, Massimo;
Laurenzi, Martino;
Mancini, Mario;
Zanchetti, Alberto;
Grassi, Mario

Publication type:

Article

A commonly occurring genetic variant within the NPLOC4–TSPAN10–PDE6G gene cluster is associated with the risk of strabismus.

Published in:

Human Genetics, 2019, v. 138, n. 7, p. 723, doi. 10.1007/s00439-019-02022-8

By:

Plotnikov, Denis;
Shah, Rupal L.;
Rodrigues, Jamille N.;
Cumberland, Phillippa M.;
Rahi, Jugnoo S.;
Hysi, Pirro G.;
Atan, Denize;
Williams, Cathy;
Guggenheim, Jeremy A.

Publication type:

Article

Observation of novel COX20 mutations related to autosomal recessive axonal neuropathy and static encephalopathy.

Published in:

Human Genetics, 2019, v. 138, n. 7, p. 749, doi. 10.1007/s00439-019-02026-4

By:

Xu, Hongliang;
Ji, Tuo;
Lian, Yajun;
Wang, Shuya;
Chen, Xin;
Li, Shuang;
Yin, Yuhui;
Dong, Xiubing

Publication type:

Article

Paired involvement of human-specific Olduvai domains and NOTCH2NL genes in human brain evolution.

Published in:

Human Genetics, 2019, v. 138, n. 7, p. 715, doi. 10.1007/s00439-019-02018-4

By:

Fiddes, Ian T.;
Pollen, Alex A.;
Davis, Jonathan M.;
Sikela, James M.

Publication type:

Article