المؤلفون: Johnston, Jennifer J, Williamson, Kathleen A, Chou, Christopher M, Sapp, Julie C, Ansari, Morad, Chapman, Heather M, Cooper, David N, Dabir, Tabib, Dudley, Jeffrey N, Holt, Richard J, Ragge, Nicola K, Schäffer, Alejandro A, Sen, Shurjo K, Slavotinek, Anne M, FitzPatrick, David R, Glaser, Thomas M, Stewart, Fiona, Black, Graeme CM, Biesecker, Leslie G

المساهمون: National Library of Medicine, Intramural Research Program, National Institutes of Health, Baillie Gifford, Hartwell Foundation, MRC IGMM Translational Science Initiative, Qiagen, MRC University Unit Award to the University Of Edinburgh, Visually Impaired Children Taking Action, Microphthalmia, Anophthalmia, Coloboma Support, National Human Genome Research Institute, Intramural Research Program, National Human Genome Research Institute

المصدر: Journal of Medical Genetics ; volume 56, issue 7, page 444-452 ; ISSN 0022-2593 1468-6244

الإتاحة: https://doi.org/10.1136/jmedgenet-2018-105836Test

المؤلفون: Mefford, Heather C, Rosenfeld, Jill A, Shur, Natasha, Slavotinek, Anne M, Cox, Victoria A, Hennekam, Raoul C, Firth, Helen V, Willatt, Lionel, Wheeler, Patricia, Morrow, Eric M, Cook, Joseph, Sullivan, Rachel, Oh, Albert, McDonald, Marie T, Zonana, Jonathan, Keller, Kory, Hannibal, Mark C, Ball, Susie, Kussmann, Jennifer, Gorski, Jerome, Zelewski, Susan, Banks, Valerie, Smith, Wendy, Smith, Rosemarie, Paull, Lindsay, Rosenbaum, Kenneth N, Amor, David J, Silva, Joao, Lamb, Allen, Eichler, Evan E

المصدر: Journal of Medical Genetics ; volume 49, issue 2, page 110-118 ; ISSN 0022-2593 1468-6244

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1136/jmedgenet-2011-100499Test