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The Origin of EFNB1 Mutations in Craniofrontonasal Syndrome: Frequent Somatic Mosaicism and Explanation of the Paucity of Carrier MalesThe American Journal of Human Genetics - Tập 78 - Trang 999-1010 - 2006
Stephen R.F. Twigg, Kazuya Matsumoto, Alexa M.J. Kidd, Anne Goriely, Indira B. Taylor, Richard B. Fisher, A. Jeannette M. Hoogeboom, Irene M.J. Mathijssen, M. Teresa Lourenço, Jenny E.V. Morton, Elizabeth Sweeney, Louise C. Wilson, Han G. Brunner, John B. Mulliken, Steven A. Wall, Andrew O.M. Wilkie
Epileptic Encephalopathy Caused by Mutations in the Guanine Nucleotide Exchange Factor DENND5AThe American Journal of Human Genetics - Tập 99 - Trang 1359-1367 - 2016
Chanshuai Han, Reem Alkhater, Tawfiq Froukh, Arakel G. Minassian, Melissa Galati, Rui Han Liu, Maryam Fotouhi, Julia Sommerfeld, Ayman J. Alfrook, Christian Marshall, Susan Walker, Peter Bauer, Stephen W. Scherer, Olaf Riess, Rebecca Buchert, Berge A. Minassian, Peter S. McPherson
Mutations within the MGC4607 Gene Cause Cerebral Cavernous MalformationsThe American Journal of Human Genetics - Tập 74 - Trang 326-337 - 2004
C. Denier, S. Goutagny, P. Labauge, V. Krivosic, M Arnoult, A. Cousin, A.L. Benabid, J. Comoy, P. Frerebeau, B. Gilbert, J.P. Houtteville, M. Jan, F. Lapierre, H. Loiseau, P. Menei, P. Mercier, J.J. Moreau, A. Nivelon-Chevallier, F. Parker, A.M. Redondo
SHORT Syndrome with Partial Lipodystrophy Due to Impaired Phosphatidylinositol 3 Kinase SignalingThe American Journal of Human Genetics - Tập 93 - Trang 150-157 - 2013
Kishan Kumar Chudasama, Jonathon Winnay, Stefan Johansson, Tor Claudi, Rainer König, Ingfrid Haldorsen, Bente Johansson, Ju Rang Woo, Dagfinn Aarskog, Jørn V. Sagen, C. Ronald Kahn, Anders Molven, Pål Rasmus Njølstad