Works matching IS 14345161 AND DT 2015 AND VI 60 AND IP 3

Results: 12

Chromosome abnormalities diagnosed in utero: a Japanese study of 28 983 amniotic fluid specimens collected before 22 weeks gestations.

Published in:

Journal of Human Genetics, 2015, v. 60, n. 3, p. 133, doi. 10.1038/jhg.2014.116

By:

Nishiyama, Miyuki;
Yan, Jim;
Yotsumoto, Junko;
Sawai, Hideaki;
Sekizawa, Akihiko;
Kamei, Yoshimasa;
Sago, Haruhiko

Publication type:

Article

Early-progressive dilated cardiomyopathy in a family with Becker muscular dystrophy related to a novel frameshift mutation in the dystrophin gene exon 27.

Published in:

Journal of Human Genetics, 2015, v. 60, n. 3, p. 151, doi. 10.1038/jhg.2014.112

By:

Tsuda, Takeshi;
Fitzgerald, Kristi;
Scavena, Mena;
Gidding, Samuel;
Cox, Mary O;
Marks, Harold;
Flanigan, Kevin M;
Moore, Steven A

Publication type:

Article

Identification of FAM13A gene associated with the ratio of FEV<sub>1</sub> to FVC in Korean population by genome-wide association studies including gene-environment interactions.

Published in:

Journal of Human Genetics, 2015, v. 60, n. 3, p. 139, doi. 10.1038/jhg.2014.118

By:

Kim, Soriul;
Kim, Hyun;
Cho, Namhan;
Lee, Seung Ku;
Han, Bok-ghee;
Sull, Jae Woong;
Jee, Sun Ha;
Shin, Chol

Publication type:

Article

Chinese homozygous Machado-Joseph disease (MJD)/SCA3: a case report.

Published in:

Journal of Human Genetics, 2015, v. 60, n. 3, p. 157, doi. 10.1038/jhg.2014.117

By:

Zeng, Sheng;
Zeng, Junsheng;
He, Miao;
Zeng, Xianfeng;
Zhou, Yao;
Liu, Zhen;
Jiang, Hong;
Tang, Beisha;
Wang, Junling

Publication type:

Article

PlexinA polymorphisms mediate the developmental trajectory of human corpus callosum microstructure.

Published in:

Journal of Human Genetics, 2015, v. 60, n. 3, p. 147, doi. 10.1038/jhg.2014.107

By:

Belyk, Michel;
Kraft, Shelly Jo;
Brown, Steven

Publication type:

Article

Exome sequencing identifies a novel CEACAM16 mutation associated with autosomal dominant nonsyndromic hearing loss DFNA4B in a Chinese family.

Published in:

Journal of Human Genetics, 2015, v. 60, n. 3, p. 119, doi. 10.1038/jhg.2014.114

By:

Wang, Honghan;
Wang, Xinwei;
He, Chufeng;
Li, Haibo;
Qing, Jie;
Grati, M'hamed;
Hu, Zhengmao;
Li, Jiada;
Hu, Yiqiao;
Xia, Kun;
Mei, Lingyun;
Wang, Xingwei;
Yu, Jianjun;
Chen, Hongsheng;
Jiang, Lu;
Liu, Yalan;
Men, Meichao;
Zhang, Hailin;
Guan, Liping;
Xiao, Jingjing

Publication type:

Article

A nonsynonymous SNP in BANK1 is associated with serum LDL cholesterol levels in three Korean populations.

Published in:

Journal of Human Genetics, 2015, v. 60, n. 3, p. 113, doi. 10.1038/jhg.2014.108

By:

Hong, Kyung-Won;
Lyu, Jieun;
Lee, So Hyun;
Choi, Bo Youl;
Kim, Sung Soo;
Kim, Yeonjung

Publication type:

Article

A reply to a commentary on identification of the rare compound heterozygous variants in the NEB gene in a Korean family with intellectual disability, epilepsy and early-childhood-onset generalized muscle weakness.

Published in:

Journal of Human Genetics, 2015, v. 60, n. 3, p. 163, doi. 10.1038/jhg.2014.119

By:

Yim, Shin-Young;
Jeong, Seon-Yong

Publication type:

Article

A message for 2015.

Published in:

Journal of Human Genetics, 2015, v. 60, n. 3, p. 109, doi. 10.1038/jhg.2015.9

By:

Matsumoto, Naomichi

Publication type:

Article

A commentary on identification of the rare compound heterozygous variants in the NEB gene in a Korean family with intellectual disability, epilepsy and early-childhood-onset generalized muscle weakness.

Published in:

Journal of Human Genetics, 2015, v. 60, n. 3, p. 161, doi. 10.1038/jhg.2014.120

By:

Pelin, Katarina;
Kiiski, Kirsi;
Lehtokari, Vilma-Lotta;
Wallgren-Pettersson, Carina

Publication type:

Article

Exome sequencing identifies a de novo mutation in HDAC8 associated with Cornelia de Lange syndrome.

Published in:

Journal of Human Genetics, 2015, v. 60, n. 3, p. 165, doi. 10.1038/jhg.2014.113

By:

Feng, Lei;
Zhou, Daizhan;
Zhang, Zhou;
Liu, Yun;
Yang, Yabo

Publication type:

Article

Copy-number variations in Y-chromosomal azoospermia factor regions identified by multiplex ligation-dependent probe amplification.

Published in:

Journal of Human Genetics, 2015, v. 60, n. 3, p. 127, doi. 10.1038/jhg.2014.115

By:

Saito, Kazuki;
Miyado, Mami;
Kobori, Yoshitomo;
Tanaka, Yoko;
Ishikawa, Hiromichi;
Yoshida, Atsumi;
Katsumi, Momori;
Saito, Hidekazu;
Kubota, Toshiro;
Okada, Hiroshi;
Ogata, Tsutomu;
Fukami, Maki

Publication type:

Article