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

Results: 8

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
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
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