Works matching IS 14345161 AND DT 2014 AND VI 59 AND IP 11

Results: 8

Resolving the genetic heterogeneity of prelingual hearing loss within one family: Performance comparison and application of two targeted next generation sequencing approaches.

Published in:

Journal of Human Genetics, 2014, v. 59, n. 11, p. 599, doi. 10.1038/jhg.2014.78

By:

Lu, Yu;
Zhou, Xueya;
Jin, Zhanguo;
Cheng, Jing;
Shen, Weidong;
Ji, Fei;
Liu, Liyang;
Zhang, Xuegong;
Zhang, Michael;
Cao, Ye;
Han, Dongyi;
Choy, KwongWai;
Yuan, Huijun

Publication type:

Article

Functional characterisation of a novel mutation affecting the catalytic domain of MMP2 in siblings with multicentric osteolysis, nodulosis and arthropathy.

Published in:

Journal of Human Genetics, 2014, v. 59, n. 11, p. 631, doi. 10.1038/jhg.2014.84

By:

Azzollini, Jacopo;
Rovina, Davide;
Gervasini, Cristina;
Parenti, Ilaria;
Fratoni, Alessia;
Cubellis, Maria Vittoria;
Cerri, Amilcare;
Pietrogrande, Luca;
Larizza, Lidia

Publication type:

Article

Mutation analysis of glycine decarboxylase, aminomethyltransferase and glycine cleavage system protein-H genes in 13 unrelated families with glycine encephalopathy.

Published in:

Journal of Human Genetics, 2014, v. 59, n. 11, p. 593, doi. 10.1038/jhg.2014.69

By:

Azize, Nor Azimah Abdul;
Ngah, Wan Zurinah Wan;
Othman, Zulhabri;
Md Desa, Norsiah;
Chin, Chen Bee;
Md Yunus, Zabedah;
Mohan, Anand;
Hean, Teh Siao;
Syed Zakaria, Syed Zulkifli;
Lock-Hock, Ngu

Publication type:

Article

KIF1A mutation in a patient with progressive neurodegeneration.

Published in:

Journal of Human Genetics, 2014, v. 59, n. 11, p. 639, doi. 10.1038/jhg.2014.80

By:

Okamoto, Nobuhiko;
Miya, Fuyuki;
Tsunoda, Tatsuhiko;
Yanagihara, Keiko;
Kato, Mitsuhiro;
Saitoh, Shinji;
Yamasaki, Mami;
Kanemura, Yonehiro;
Kosaki, Kenjiro

Publication type:

Article

Novel locus for fibrinogen in 3′ region of LEPR gene in island population of Vis (Croatia).

Published in:

Journal of Human Genetics, 2014, v. 59, n. 11, p. 623, doi. 10.1038/jhg.2014.82

By:

Tomas, Željka;
Petranović, Matea Zajc;
Škarić-Jurić, Tatjana;
Barešić, Ana;
Salihović, Marijana Peričić;
Narančić, Nina Smolej

Publication type:

Article

The first case in Asia of 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (HSD10 disease) with atypical presentation.

Published in:

Journal of Human Genetics, 2014, v. 59, n. 11, p. 609, doi. 10.1038/jhg.2014.79

By:

Fukao, Toshiyuki;
Akiba, Kazuhisa;
Goto, Masahiro;
Kuwayama, Nobuki;
Morita, Mikiko;
Hori, Tomohiro;
Aoyama, Yuka;
Venkatesan, Rajaram;
Wierenga, Rik;
Moriyama, Yohsuke;
Hashimoto, Takashi;
Usuda, Nobuteru;
Murayama, Kei;
Ohtake, Akira;
Hasegawa, Yuki;
Shigematsu, Yosuke;
Hasegawa, Yukihiro

Publication type:

Article

The influence of admixture and consanguinity on population genetic diversity in Middle East.

Published in:

Journal of Human Genetics, 2014, v. 59, n. 11, p. 615, doi. 10.1038/jhg.2014.81

By:

Yang, Xiong;
Al-Bustan, Suzanne;
Feng, Qidi;
Guo, Wei;
Ma, Zhiming;
Marafie, Makia;
Jacob, Sindhu;
Al-Mulla, Fahd;
Xu, Shuhua

Publication type:

Article

Study of structural chromosome abnormalities to increase the understanding of human genetic diversity: a commentary on signature of backward replication slippage at the copy number variation junction.

Published in:

Journal of Human Genetics, 2014, v. 59, n. 11, p. 591, doi. 10.1038/jhg.2014.83

By:

Wakui, Keiko

Publication type:

Article