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Using Whole-Exome Sequencing to Identify Inherited Causes of Autism Yu, Timothy W.; Chahrour, Maria H.; Coulter, Michael E.; Jiralerspong, Sarn; Okamura-Ikeda, Kazuko; Ataman, Bulent; Schmitz-Abe, Klaus; Harmin, David A.; Adli, Mazhar; Malik, Athar N.; D'Gama, Alissa M.; Lim, Elaine T.; Sanders, Stephan J.; Mochida, Ganesh H.; Partlow, Jennifer N.; Sunu, Christine M.; Felie, Jillian M.; Rodriguez, Jacqueline; Nasir, Ramzi H.; Ware, Janice; Joseph, Robert M.; Hill, R. Sean; Kwan, Benjamin Y.; Al-Saffar, Muna; Mukaddes, Nahit M.; Hashmi, Asif; Balkhy, Soher; Gascon, Generoso G.; Hisama, Fuki M.; LeClair, Elaine; Poduri, Annapurna; Oner, Ozgur; Al-Saad, Samira; Al-Awadi, Sadika A.; Bastaki, Laila; Ben-Omran, Tawfeg; Teebi, Ahmad S.; Al-Gazali, Lihadh; Eapen, Valsamma; Stevens, Christine R.; Rappaport, Leonard; Gabriel, Stacey B.; Markianos, Kyriacos; State, Matthew W.; Greenberg, Michael E.; Taniguchi, Hisaaki; Braverman, Nancy E.; Morrow, Eric M.; Walsh, Christopher A. 分享 收藏
Human Mutations in NDE1 Cause Extreme Microcephaly with Lissencephaly (vol 88, pg 536, 2011) Alkuraya, Fowzan S.; Cai, Xuyu; Emery, Carina; Mochida, Ganeshwaran H.; Al-Dosari, Mohammed S.; Felie, Jillian M.; Hill, R. Sean; Barry, Brenda J.; Partlow, Jennifer N.; Gascon, Generoso G.; Kentab, Amal; Jan, Mohammad; Shaheen, Ranad; Peng, Yuanyi; Walsh, Christopher A. 分享 收藏
Human Mutations in NDE1 Cause Extreme Microcephaly with Lissencephaly Alkuraya, Fowzan S.; Cai, Xuyu; Emery, Carina; Mochida, Ganeshwaran H.; Al-Dosari, Mohammed S.; Felie, Jillian M.; Hill, R. Sean; Barry, Brenda J.; Partlow, Jennifer N.; Gascon, Generoso G.; Kentab, Amal; Jan, Mohammad; Shaheen, Ranad; Feng, Yuanyi; Walsh, Christopher A. 分享 收藏
Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome (vol 36, pg 1008, 2004) Ferland, RJ; Eyaid, W; Collura, RV; Tully, LD; Hill, RS; Al-Nouri, D; Al-Rumayyan, A; Topcu, M; Gascon, G; Bodell, A; Shugart, YY; Ruvolo, M; Walsh, CA 分享 收藏
Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome Ferland, RJ; Eyaid, W; Collura, RV; Tully, LD; Hill, RS; Al-Nouri, D; Al-Rumayyan, A; Topcu, M; Gascon, G; Bodell, A; Shugart, YY; Ruvolo, M; Walsh, CA 分享 收藏
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The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis Yang, Y; Hentati, A; Deng, HX; Dabbagh, O; Sasaki, T; Hirano, M; Hung, WY; Ouahchi, K; Yan, JH; Azim, AC; Cole, N; Gascon, G; Yagmour, A; Ben-Hamida, M; Pericak-Vance, M; Hentati, F; Siddique, T 分享 收藏
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