Works matching IS 14345161 AND DT 2015 AND VI 60 AND IP 7

Results: 10

Short-term efficacy of N-carbamylglutamate in a patient with N-acetylglutamate synthase deficiency.

Published in:

Journal of Human Genetics, 2015, v. 60, n. 7, p. 395, doi. 10.1038/jhg.2015.30

By:

Kim, Ja Hye;
Kim, Yoo-Mi;
Lee, Beom Hee;
Cho, Ja Hyang;
Kim, Gu-Hwan;
Choi, Jin-Ho;
Yoo, Han-Wook

Publication type:

Article

Biotin-responsive basal ganglia disease: a case diagnosed by whole exome sequencing.

Published in:

Journal of Human Genetics, 2015, v. 60, n. 7, p. 381, doi. 10.1038/jhg.2015.35

By:

Kohrogi, Kensaku;
Imagawa, Eri;
Muto, Yuichiro;
Hirai, Katsuki;
Migita, Masahiro;
Mitsubuchi, Hiroshi;
Miyake, Noriko;
Matsumoto, Naomichi;
Nakamura, Kimitoshi;
Endo, Fumio

Publication type:

Article

Polymorphisms in DCDC2 and S100B associate with developmental dyslexia.

Published in:

Journal of Human Genetics, 2015, v. 60, n. 7, p. 399, doi. 10.1038/jhg.2015.37

By:

Matsson, Hans;
Huss, Mikael;
Persson, Helena;
Einarsdottir, Elisabet;
Tiraboschi, Ettore;
Nopola-Hemmi, Jaana;
Schumacher, Johannes;
Neuhoff, Nina;
Warnke, Andreas;
Lyytinen, Heikki;
Schulte-Körne, Gert;
Nöthen, Markus M;
Leppänen, Paavo HT;
Peyrard-Janvid, Myriam;
Kere, Juha

Publication type:

Article

Genetic and linguistic correlation of the Kra-Dai-speaking groups in Thailand.

Published in:

Journal of Human Genetics, 2015, v. 60, n. 7, p. 371, doi. 10.1038/jhg.2015.32

By:

Srithawong, Suparat;
Srikummool, Metawee;
Pittayaporn, Pittayawat;
Ghirotto, Silvia;
Chantawannakul, Panuwan;
Sun, Jie;
Eisenberg, Arthur;
Chakraborty, Ranajit;
Kutanan, Wibhu

Publication type:

Article

A dual origin of Tibetans: evidence from mitochondrial genomes.

Published in:

Journal of Human Genetics, 2015, v. 60, n. 7, p. 403, doi. 10.1038/jhg.2015.40

By:

Li, Yu-Chun;
Tian, Jiao-Yang;
Kong, Qing-Peng

Publication type:

Article

Fine mapping and resequencing of the PARK16 locus in Parkinson's disease.

Published in:

Journal of Human Genetics, 2015, v. 60, n. 7, p. 357, doi. 10.1038/jhg.2015.34

By:

Pihlstrøm, Lasse;
Rengmark, Aina;
Bjørnarå, Kari Anne;
Dizdar, Nil;
Fardell, Camilla;
Forsgren, Lars;
Holmberg, Björn;
Larsen, Jan Petter;
Linder, Jan;
Nissbrandt, Hans;
Tysnes, Ole-Bjørn;
Dietrichs, Espen;
Toft, Mathias

Publication type:

Article

A novel mutation in the promoter of RARS2 causes pontocerebellar hypoplasia in two siblings.

Published in:

Journal of Human Genetics, 2015, v. 60, n. 7, p. 363, doi. 10.1038/jhg.2015.31

By:

Li, Zejuan;
Schonberg, Rhonda;
Guidugli, Lucia;
Johnson, Amy Knight;
Arnovitz, Stephen;
Yang, Sandra;
Scafidi, Joseph;
Summar, Marshall L;
Vezina, Gilbert;
Das, Soma;
Chapman, Kimberly;
del Gaudio, Daniela

Publication type:

Article

Patterns and functional roles of LINE-1 and Alu methylation in the keratinocyte from patients with psoriasis vulgaris.

Published in:

Journal of Human Genetics, 2015, v. 60, n. 7, p. 349, doi. 10.1038/jhg.2015.33

By:

Yooyongsatit, Surasak;
Ruchusatsawat, Kriangsak;
Noppakun, Nopadon;
Hirankarn, Nattiya;
Mutirangura, Apiwat;
Wongpiyabovorn, Jongkonnee

Publication type:

Article

Associations between the polymorphisms of GSTT1, GSTM1 and methylation of arsenic in the residents exposed to low-level arsenic in drinking water in China.

Published in:

Journal of Human Genetics, 2015, v. 60, n. 7, p. 387, doi. 10.1038/jhg.2015.39

By:

Yang, Jinyou;
Yan, Li;
Zhang, Min;
Wang, Yijun;
Wang, Chun;
Xiang, Quanyong

Publication type:

Article

A commentary on short-term efficacy of N-carbamylglutamate in a patient with N-acetylglutamate synthase deficiency.

Published in:

Journal of Human Genetics, 2015, v. 60, n. 7, p. 347, doi. 10.1038/jhg.2015.38

By:

Takayanagi, Masaki

Publication type:

Article