A. Zinn

发表

Characterization of neo-centromeres in marker chromosomes lacking detectable alpha-satellite DNA.

S. Schwartz, H. Willard, W. Earnshaw, 1997, Human molecular genetics.

Maternal uniparental disomy chromosome 14: case report and literature review.

Marni J. Falk, S. Schwartz, M. Falk, 2005, Pediatric neurology.

Disorders of Pyruvate Metabolism and the Tricarboxylic Acid Cycle

D. Kerr, A. Zinn, I. Wexler, 2000 .

Fumarase deficiency: a new cause of mitochondrial encephalomyopathy.

D. Kerr, C. Hoppel, A. Zinn, 1986, The New England journal of medicine.

Recurrent immune cytopenias in two patients with DiGeorge/velocardiofacial syndrome.

N. Robin, A. Zinn, E. Lourie, 1997, The Journal of pediatrics.

Psychological response to amniocentesis: II. Effects of coping style.

S. Phipps, A. Zinn, 1986, American journal of medical genetics.

Delineation of the Marfan phenotype associated with mutations in exons 23-32 of the FBN1 gene.

P. Byers, J. Towbin, D. Milewicz, 1996, American journal of medical genetics.

SECTION 4 – Nature of Linkages between Protein Core and Oligosaccharides

A. Zinn, 1977 .

Variable expression of osteogenesis imperfecta in a nuclear family is explained by somatic mosaicism for a lethal point mutation in the alpha 1(I) gene (COL1A1) of type I collagen in a parent.

P. Byers, A. Zinn, G. Wallis, 1990, American journal of human genetics.

Inherited WT1 mutation in Denys-Drash syndrome.

B. Williams, M. Coppes, J. Balfe, 1992, Cancer research.

The M405V allele of the glutaryl-CoA dehydrogenase gene is an important marker for glutaric aciduria type I (GA-I) low excretors.

G. Enns, C. Hoppel, J. Bedoyan, 2016, Molecular genetics and metabolism.

The need for anonymous genetic counseling and testing.

M. Mehlman, E. Kodish, S. Cassidy, 1996, American journal of human genetics.

The Pyruvate Dehydrogenase Complex and Tricarboxylic Acid Cycle

D. Kerr, A. Zinn, 1995 .

Methyl 5-diazolevulinate intervention in chemically induced porphyria of rats

R. Carraway, A. Zinn, E. Kosower, 1969 .

Inborn errors of metabolism

A. Zinn, 2011 .

The Stable Isotope Dilution Method for Measurement of Methylmalonic Acid: a Highly Accurate Approach to the Prenatal Diagnosis of Methylmalonic Acidemia

Kay Tanaka, M. Mahoney, A. Zinn, 1982, Pediatric Research.

A 13-year-old boy with cognitive impairment, retinoblastoma, and Wilson disease

S. Schwartz, M. Wiznitzer, A. Zinn, 2001, Neurology.

Distal deletion of the short arm of chromosome 6.

A. Zinn, W. Golden, V. Zurcher, 1990, American journal of medical genetics.

The clinical introduction of genetic testing for Alzheimer disease. An ethical perspective.

A. Roses, P. S. St George-Hyslop, N. Relkin, 1997, JAMA.

Psychological response to amniocentesis: I. Mood state and adaptation to pregnancy.

S. Phipps, A. Zinn, 1986, American journal of medical genetics.

Ethylmalonic/Adipic Aciduria: Effects of Oral Medium-Chain Triglycerides, Carnitine, and Glycine on Urinary Excretion of Organic Acids, Acylcarnitines, and Acylglycines

Piero Rinaldo, Stephen F Previs, J. O’Shea, 1991, Pediatric Research.

Enamel defects: a developmental marker for hemifacial microsomia.

B. Weissman, A. Zinn, D. Johnsen, 1990, American journal of medical genetics.

Achalasia as the Harbinger of a Novel Mitochondrial Disorder in Childhood

T. Chelimsky, M. Hirano, G. Chelimsky, 2005, Journal of pediatric gastroenterology and nutrition.

Molecular analysis of 46,XY females and regional assignment of a new Y-chromosome-specific probe

D. C. Walker, D. Page, C. Disteche, 1989, Human Genetics.

Characterization of a familial balanced rec(13) in a child with mild MR and his half‐sibling with two structurally rearranged chromosomes 13

S. Schwartz, L. Christ, L. Jeng, 2005, American journal of medical genetics. Part A.

Sex chromosome markers: characterization using fluorescence in situ hybridization and review of the literature.

S. Schwartz, V. Park, E. Karson, 1997, American journal of medical genetics.

Pendular nystagmus in patients with peroxisomal assembly disorder.

R. Leigh, L. Dell’Osso, J. Jacobs, 1998, Archives of neurology.