Works matching IS 14345161 AND DT 2015 AND VI 60 AND IP 1

Results: 7

Investigation of genetic factors underlying typical orofacial clefts: mutational screening and copy number variation.

Published in:

Journal of Human Genetics, 2015, v. 60, n. 1, p. 17, doi. 10.1038/jhg.2014.96

By:

Simioni, Milena;
Araujo, Tânia Kawasaki;
Monlleo, Isabella Lopes;
Maurer-Morelli, Cláudia Vianna;
Gil-da-Silva-Lopes, Vera Lúcia

Publication type:

Article

Sousse: extreme genetic heterogeneity in North Africa.

Published in:

Journal of Human Genetics, 2015, v. 60, n. 1, p. 41, doi. 10.1038/jhg.2014.99

By:

Fadhlaoui-Zid, Karima;
Garcia-Bertrand, Ralph;
Alfonso-Sánchez, Miguel A;
Zemni, Ramzi;
Benammar-Elgaaied, Amel;
Herrera, Rene J

Publication type:

Article

The phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in Turkey.

Published in:

Journal of Human Genetics, 2015, v. 60, n. 1, p. 51, doi. 10.1038/jhg.2014.101

By:

Ozantürk, Ayşegül;
Marshall, Jan D;
Collin, Gayle B;
Düzenli, Selma;
Marshall, Robert P;
Candan, Şükrü;
Tos, Tülay;
Esen, İhsan;
Taşkesen, Mustafa;
Çayır, Atilla;
Öztürk, Şükrü;
Üstün, İhsan;
Ataman, Esra;
Karaca, Emin;
Özdemir, Taha Reşid;
Erol, İlknur;
Eroğlu, Fehime Kara;
Torun, Deniz;
Parıltay, Erhan;
Yılmaz-Güleç, Elif

Publication type:

Article

Association of neonatal hyperbilirubinemia in breast-fed infants with UGT1A1 or SLCOs polymorphisms.

Published in:

Journal of Human Genetics, 2015, v. 60, n. 1, p. 35, doi. 10.1038/jhg.2014.98

By:

Sato, Hiroko;
Uchida, Toshihiko;
Toyota, Kentaro;
Nakamura, Tomohiro;
Tamiya, Gen;
Kanno, Miyako;
Hashimoto, Taeko;
Watanabe, Masashi;
Aoki, Kuraaki;
Hayasaka, Kiyoshi

Publication type:

Article

The phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in Turkey.

Published in:

Journal of Human Genetics, 2015, v. 60, n. 1, p. 1, doi. 10.1038/jhg.2014.85

By:

Ozantürk, Ayşegül;
Marshall, Jan D;
Collin, Gayle B;
Düzenli, Selma;
Marshall, Robert P;
Candan, Şükrü;
Tos, Tülay;
Esen, İhsan;
Taşkesen, Mustafa;
Çayır, Atilla;
Öztürk, Şükrü;
Üstün, İhsan;
Ataman, Esra;
Karaca, Emin;
Özdemir, Taha Reşid;
Erol, İlknur;
Eroğlu, Fehime Kara;
Torun, Deniz;
Parıltay, Erhan;
Yılmaz-Güleç, Elif

Publication type:

Article

Genetic variant in NDUFS1 gene is associated with schizophrenia and negative symptoms in Han Chinese.

Published in:

Journal of Human Genetics, 2015, v. 60, n. 1, p. 11, doi. 10.1038/jhg.2014.94

By:

Zhu, Yunlong;
Wang, Zhongliang;
Ni, Jianliang;
Zhang, Yi;
Chen, Meijuan;
Cai, Jun;
Li, Xiao;
Zhang, Wen;
Zhang, Chen

Publication type:

Article

Identification of two novel mutations in the NOG gene associated with congenital stapes ankylosis and symphalangism.

Published in:

Journal of Human Genetics, 2015, v. 60, n. 1, p. 27, doi. 10.1038/jhg.2014.97

By:

Ganaha, Akira;
Kaname, Tadashi;
Akazawa, Yukinori;
Higa, Teruyuki;
Shinjou, Ayano;
Naritomi, Kenji;
Suzuki, Mikio

Publication type:

Article