中文版 | English

在结果中检索

Arid

浏览/检索结果: 共2条，第1-2条 帮助

已选(0)清除 条数/页：   排序方式：
Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability 期刊论文
发表期刊: HUMAN GENETICS. 出版年: 2018, 卷号: 137, 期号: 9, 页码: 735-752
作者:  Santos-Cortez, Regie Lyn P.;  Khan, Valeed;  Khan, Falak Sher;  Mughal, Zaib-un-Nisa;  Chakchouk, Imen;  Lee, Kwanghyuk;  Rasheed, Memoona;  Hamza, Rifat;  Acharya, Anushree;  Ullah, Ehsan;  Saqib, Muhammad Arif Nadeem;  Abbe, Izoduwa;  Ali, Ghazanfar;  Hassan, Muhammad Jawad;  Khan, Saadullah;  Azeem, Zahid;  Ullah, Irfan;  Bamshad, Michael J.;  Nickerson, Deborah A.;  Schrauwen, Isabelle;  Ahmad, Wasim;  Ansar, Muhammad;  Leal, Suzanne M.
收藏  |  浏览/下载：15/0  |  提交时间：2019/11/29
Monoallelic and biallelic &ITCREB3L1 &ITvariant causes mild and severe osteogenesis imperfecta, respectively 期刊论文
发表期刊: GENETICS IN MEDICINE. 出版年: 2018, 卷号: 20, 期号: 4, 页码: 411-419
作者:  Keller, Rachel B.;  Tran, Thao T.;  Pyott, Shawna M.;  Pepin, Melanie G.;  Savarirayan, Ravi;  McGillivray, George;  Nickerson, Deborah A.;  Bamshad, Michael J.;  Byers, Peter H.
收藏  |  浏览/下载：11/0  |  提交时间：2019/11/29
bone  COPII  CREB3L1  OASIS  osteogenesis imperfecta