检索结果 - John M. Graham
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Clinical review of genetic epileptic encephalopathies 由 Grace Noh, Yael Asher, John M. Graham
出版 2012Revisão -
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Osteogenesis imperfecta. The position of substitution for glycine by cysteine in the triple helical domain of the pro alpha 1(I) chains of type I collagen determines the clinical p... 由 B J Starman, David R. Eyre, Harry Charbonneau, M Harrylock, Mary Ann Weis, L M Weiss, John M. Graham, Peter H. Byers
出版 1989Artigo -
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Cerebro-Oculo-Facio-Skeletal Syndrome with a Nucleotide Excision–Repair Defect and a Mutated XPD Gene, with Prenatal Diagnosis in a Triplet Pregnancy 由 John M. Graham, Kwame Anyane‐Yeboa, Anja Raams, Esther Appeldoorn, Wim J. Kleijer, Victor H. Garritsen, David B. Busch, Terri G. Edersheim, Nicolaas G.J. Jaspers
出版 2001Artigo -
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Manitoba Aboriginal Kindred with Original Cerebro-Oculo-Facio-Skeletal Syndrome Has a Mutation in the Cockayne Syndrome Group B (CSB) Gene 由 Lisiane B. Meira, John M. Graham, Cheryl R. Greenberg, David B. Busch, Ana T.B. Doughty, Deborah White Ziffer, Donna Coleman, Isabelle Savre‐Train, E C Friedberg
出版 2000Artigo -
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Megalencephaly‐capillary malformation (MCAP) and megalencephaly‐polydactyly‐polymicrogyria‐hydrocephalus (MPPH) syndromes: Two closely related disorders of brain overgrowth and abn... 由 Ghayda Mirzaa, Robert L. Conway, Karen W. Gripp, Tally Lerman‐Sagie, Dawn H. Siegel, Linda S. deVries, Dorit Lev, Nancy Kramer, Elizabeth Hopkins, John M. Graham, William B. Dobyns
出版 2012Artigo
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