Works matching IS 14345161 AND DT 2014 AND VI 59 AND IP 1

Results: 12

Mitochondrial DNA history of Sri Lankan ethnic people: their relations within the island and with the Indian subcontinental populations.

Published in:

Journal of Human Genetics, 2014, v. 59, n. 1, p. 28, doi. 10.1038/jhg.2013.112

By:

Ranaweera, Lanka;
Kaewsutthi, Supannee;
Win Tun, Aung;
Boonyarit, Hathaichanoke;
Poolsuwan, Samerchai;
Lertrit, Patcharee

Publication type:

Article

Hereditary hemorrhagic telangiectasia in Japanese patients.

Published in:

Journal of Human Genetics, 2014, v. 59, n. 1, p. 37, doi. 10.1038/jhg.2013.113

By:

Komiyama, Masaki;
Ishiguro, Tomoya;
Yamada, Osamu;
Morisaki, Hiroko;
Morisaki, Takayuki

Publication type:

Article

Genetic risk transmission in a family affected by familial breast cancer.

Published in:

Journal of Human Genetics, 2014, v. 59, n. 1, p. 51, doi. 10.1038/jhg.2013.109

By:

Pilato, Brunella;
De Summa, Simona;
Danza, Katia;
Lacalamita, Rosanna;
Lambo, Rossana;
Sambiasi, Domenico;
Paradiso, Angelo;
Tommasi, Stefania

Publication type:

Article

Correlation of PLS3 expression with disease severity in children with spinal muscular atrophy.

Published in:

Journal of Human Genetics, 2014, v. 59, n. 1, p. 24, doi. 10.1038/jhg.2013.111

By:

Yanyan, Cao;
Yujin, Qu;
Jinli, Bai;
Yuwei, Jin;
Hong, Wang;
Fang, Song

Publication type:

Article

Differences in carrier frequency between mothers of Duchenne and Becker muscular dystrophy patients.

Published in:

Journal of Human Genetics, 2014, v. 59, n. 1, p. 46, doi. 10.1038/jhg.2013.119

By:

Lee, Tomoko;
Takeshima, Yasuhiro;
Kusunoki, Noriko;
Awano, Hiroyuki;
Yagi, Mariko;
Matsuo, Masafumi;
Iijima, Kazumoto

Publication type:

Article

A new mutation in the C-SH2 domain of PTPN11 causes Noonan syndrome with multiple giant cell lesions.

Published in:

Journal of Human Genetics, 2014, v. 59, n. 1, p. 57, doi. 10.1038/jhg.2013.118

By:

Carapito, Raphael;
Paul, Nicodème;
Untrau, Meiggie;
Ott, Louise;
Corradini, Nadège;
Poignant, Sylvaine;
Geffroy, Loïc;
Caldagues, Emmanuelle;
Heymann, Marie-Françoise;
Cassagnau, Elisabeth;
Isidor, Bertrand;
Bahram, Seiamak

Publication type:

Article

Genetic association study between the detected risk variants based upon type II diabetes GWAS and psychotic disorders in the Japanese population.

Published in:

Journal of Human Genetics, 2014, v. 59, n. 1, p. 54, doi. 10.1038/jhg.2013.116

By:

Kajio, Yusuke;
Kondo, Kenji;
Saito, Takeo;
Iwayama, Yoshimi;
Aleksic, Branko;
Yamada, Kazuo;
Toyota, Tomoko;
Hattori, Eiji;
Ujike, Hiroshi;
Inada, Toshiya;
Kunugi, Hiroshi;
Kato, Tadafumi;
Yoshikawa, Takeo;
Ozaki, Norio;
Ikeda, Masashi;
Iwata, Nakao

Publication type:

Article

The promise of whole-exome sequencing in medical genetics.

Published in:

Journal of Human Genetics, 2014, v. 59, n. 1, p. 5, doi. 10.1038/jhg.2013.114

By:

Rabbani, Bahareh;
Tekin, Mustafa;
Mahdieh, Nejat

Publication type:

Article

A message from the new Editor-in-Chief.

Published in:

Journal of Human Genetics, 2014, v. 59, n. 1, p. 1, doi. 10.1038/jhg.2013.127

By:

Matsumoto, Naomichi

Publication type:

Article

Farewell: retirement as Editor-in-Chief of the Journal of Human Genetics and launching Human Genome Variation.

Published in:

Journal of Human Genetics, 2014, v. 59, n. 1, p. 2, doi. 10.1038/jhg.2013.126

By:

Tokunaga, Katsushi

Publication type:

Article

A mutation analysis of the AGL gene in Korean patients with glycogen storage disease type III.

Published in:

Journal of Human Genetics, 2014, v. 59, n. 1, p. 42, doi. 10.1038/jhg.2013.117

By:

Ko, Jae Sung;
Moon, Jin Soo;
Seo, Jeong Kee;
Yang, Hye Ran;
Chang, Ju Young;
Park, Sung Sup

Publication type:

Article

Exploring the pathophysiology behind the more common genetic and acquired lipodystrophies.

Published in:

Journal of Human Genetics, 2014, v. 59, n. 1, p. 16, doi. 10.1038/jhg.2013.107

By:

Nolis, Tom

Publication type:

Article