PatriciaGalvin-PartonMD
Medical Genetics • Stony Brook, NYClinical Genetics, Medical Biochemical Genetics
Professor, Pediatrics, Stony Brook University SOM
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Office
Nicolls Rd
Stony Brook, NY 11794Phone+1 631-444-7885Fax+1 631-444-8968
Education & Training
Children's Hospital Los AngelesResidency, Pediatrics, 1982 - 1984
New York Medical CollegeClass of 1980
Certifications & Licensure
CA State Medical License 1981 - Present
NY State Medical License 1989 - 2026- American Board of Medical Genetics and Genomics Clinical Genetics
- American Board of Medical Genetics and Genomics Medical Biochemical Genetics
Publications & Presentations
PubMed
- 8 citationsProspective identification by neonatal screening of patients with guanidinoacetate methyltransferase deficiency.Kim Hart, Andreas Rohrwasser, Heidi Wallis, Heather Golsan, Jianyin Shao
Molecular Genetics and Metabolism. 2021-07-29 - 126 citationsGenotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848Magdalena Koczkowska, Yunjia Chen, Tom Callens, Alicia Gomes, Angela Sharp
American Journal of Human Genetics. 2018-01-04 - 43 citationsDeficient activity of alanyl-tRNA synthetase underlies an autosomal recessive syndrome of progressive microcephaly, hypomyelination, and epileptic encephalopathy.Tojo Nakayama, Jiang Wu, Patricia Galvin-Parton, Jody Weiss, Mary R. Andriola
Human Mutation. 2017-06-23
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