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