Volume 60; Issue 1

Main
Journal of Human Genetics
Volume 60; Issue 1

Journal of Human Genetics

Volume 60; Issue 1

1

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

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

Journal:

Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 1.42 MB

english, 2015

2

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

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

Journal:

Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 267 KB

english, 2015

3

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

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

Journal:

Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 3.95 MB

english, 2015

4

Sousse: extreme genetic heterogeneity in North Africa

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

Journal:

Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 1.39 MB

english, 2015

5

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

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,

Journal:

Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 427 KB

english, 2015

6

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

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,

Journal:

Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 68 KB

english, 2015

7

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

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

Journal:

Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 370 KB

english, 2015