Výsledky vyhledávání - John M. Graham
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Klinefelter syndrome and other sex chromosomal aneuploidies Autor Jeannie Visootsak, John M. Graham
Vydáno 2006Revisão -
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<i>MED</i><i>12</i> related disorders Autor John M. Graham, Charles E. Schwartz
Vydáno 2013Revisão -
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Pallister-Hall syndrome. Autor Leslie G. Biesecker, John M. Graham
Vydáno 1996Artigo -
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Clinical review of genetic epileptic encephalopathies Autor Grace Noh, Yael Asher, John M. Graham
Vydáno 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... Autor B J Starman, David R. Eyre, Harry Charbonneau, M Harrylock, Mary Ann Weis, L M Weiss, John M. Graham, Peter H. Byers
Vydáno 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 Autor 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
Vydáno 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 Autor 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
Vydáno 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... Autor 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
Vydáno 2012Artigo
Vyhledávací nástroje:
Související témata
Biology
Genetics
Gene
Medicine
Phenotype
Mutation
Internal medicine
Neuroscience
Pediatrics
Exome sequencing
Pathology
Anatomy
Epilepsy
Missense mutation
Psychology
Intellectual disability
Psychiatry
Biochemistry
Bioinformatics
Cell biology
Macrocephaly
Polymicrogyria
Pregnancy
Exome
Genotype
Megalencephaly
Molecular biology
Paleontology
Sanger sequencing
Surgery