Maternal uniparental disomy chromosome 14: Case report and literature review
Falk, Marni J., Curtis, Christine A., Bass, Nancy E., Zinn, Arthur B., Schwartz, Stuart
Published in Pediatric neurology (01.02.2005)
Published in Pediatric neurology (01.02.2005)
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The M405V allele of the glutaryl-CoA dehydrogenase gene is an important marker for glutaric aciduria type I (GA-I) low excretors
Schillaci, Lori-Anne P., Greene, Carol L., Strovel, Erin, Rispoli-Joines, Jessica, Spector, Elaine, Woontner, Michael, Scharer, Gunter, Enns, Gregory M., Gallagher, Renata, Zinn, Arthur B., McCandless, Shawn E., Hoppel, Charles L., Goodman, Stephen I., Bedoyan, Jirair K.
Published in Molecular genetics and metabolism (01.09.2016)
Published in Molecular genetics and metabolism (01.09.2016)
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Journal Article
Fumarase Deficiency: A New Cause of Mitochondrial Encephalomyopathy
Zinn, Arthur B, Kerr, Douglas S, Hoppel, Charles L
Published in The New England journal of medicine (21.08.1986)
Published in The New England journal of medicine (21.08.1986)
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Ethylmalonic/adipic aciduria : effects of oral medium-chain triglycerides, carnitine, and glycine on urinary excretion of organic acids, acylcarnitines, and acylglycines
RINALDO, P, WELCH, R. D, PREVIS, S. F, SCHMIDT-SOMMERFELD, E, GARGUS, J. J, O'SHEA, J. J, ZINN, A. B
Published in Pediatric research (01.09.1991)
Published in Pediatric research (01.09.1991)
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Journal Article
Fumarase Deficiency
Snodgrass, P.J, Zinn, Arthur B, Kerr, Douglas S, Hoppel, Charles L
Published in The New England journal of medicine (05.02.1987)
Published in The New England journal of medicine (05.02.1987)
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Journal Article
Pendular Nystagmus in Patients With Peroxisomal Assembly Disorder
Kori, Adriana A, Robin, Nathaniel H, Jacobs, Jonathan B, Erchul, Daniel M, Zaidat, Osama O, Remler, Bernd F, Averbuch-Heller, Lea, Dell'Osso, Louis F, Leigh, R. John, Zinn, Arthur B
Published in Archives of neurology (Chicago) (01.04.1998)
Published in Archives of neurology (Chicago) (01.04.1998)
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Characterization of Neo-Centromeres in Marker Chromosomes Lacking Detectable Alpha-satellite DNA
Depinet, Theresa W., Zackowski, Joleen L., Earnshaw, William C., Kaffe, Sara, Sekhon, Gurbax S., Stallard, Richard, Sullivan, Beth A., Vance, Gail H., Van Dyke, Daniel L., Willard, Huntington F., Zinn, Arthur B., Schwartz, Stuart
Published in Human molecular genetics (01.08.1997)
Published in Human molecular genetics (01.08.1997)
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Inherited WT1 mutation in Denys-Drash syndrome
COPPES, M. J, LIEFERS, G. J, HIGUCHI, M, ZINN, A. B, WILLIAMSON BALFE, J, WILLIAMS, B. R. G
Published in Cancer research (Chicago, Ill.) (01.11.1992)
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Published in Cancer research (Chicago, Ill.) (01.11.1992)
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Reply to Clayton and Rothstein
Mehlman, Maxwell J., Kodish, Eric D., Whitehouse, Peter, Zinn, Arthur B., Cassidy, Suzanne B.
Published in American journal of human genetics (01.11.1996)
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Published in American journal of human genetics (01.11.1996)
Journal Article
Variable expression of osteogenesis imperfecta in a nuclear family is explained by somatic mosaicism for a lethal point mutation in the αI(I) gene (COLIAI) of type I collagen in a parent
WALLIS, G. A, STARMAN, B. J, ZINN, A. B, BYERS, P. H
Published in American journal of human genetics (1990)
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Published in American journal of human genetics (1990)
Journal Article
The need for anonymous genetic counseling and testing
MEHLMAN, M. J, KODISH, E. D, WHITEHOUSE, P, ZINN, A. B, SOLLITTO, S, BERGER, J, CHIAO, E. J, DOSICK, M. S, CASSIDY, S. B
Published in American journal of human genetics (01.02.1996)
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Published in American journal of human genetics (01.02.1996)
Journal Article
The clinical introduction of genetic testing for Alzheimer disease. An ethical perspective
Post, S G, Whitehouse, P J, Binstock, R H, Bird, T D, Eckert, S K, Farrer, L A, Fleck, L M, Gaines, A D, Juengst, E T, Karlinsky, H, Miles, S, Murray, T H, Quaid, K A, Relkin, N R, Roses, A D, St George-Hyslop, P H, Sachs, G A, Steinbock, B, Truschke, E F, Zinn, A B
Published in JAMA : the journal of the American Medical Association (12.03.1997)
Published in JAMA : the journal of the American Medical Association (12.03.1997)
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Molecular analysis of 46,XY females and regional assignment of a new Y-chromosome-specific probe
Cantrell, M A, Bicknell, J N, Pagon, R A, Page, D C, Walker, D C, Saal, H M, Zinn, A B, Disteche, C M
Published in Human genetics (01.08.1989)
Published in Human genetics (01.08.1989)
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Delineation of the Marfan phenotype associated with mutations in exons 23-32 of the FBN1 gene
Putnam, E A, Cho, M, Zinn, A B, Towbin, J A, Byers, P H, Milewicz, D M
Published in American journal of medical genetics (29.03.1996)
Published in American journal of medical genetics (29.03.1996)
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Sex chromosome markers: characterization using fluorescence in situ hybridization and review of the literature
Schwartz, S, Depinet, T W, Leana-Cox, J, Isada, N B, Karson, E M, Park, V M, Pasztor, L M, Sheppard, L C, Stallard, R, Wolff, D J, Zinn, A B, Zurcher, V L, Zackowski, J L
Published in American journal of medical genetics (11.07.1997)
Published in American journal of medical genetics (11.07.1997)
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