Dr. Margretta R Seashore MD
Geneticist | Clinical Genetics (M.D.)
20 York St Children's Hospital New Haven CT, 06510About
Dr. Margretta Seashore practices Genetic Medicine in New Haven, CT. As a geneticist, Dr. Seashore performs experiments and analyzes data to interpret the inheritance of different traits in patients. A geneticist evaluates, diagnoses, and manages patients with hereditary conditions or congenital malformations, genetic risk calculations, and mutation analysis. Dr. Seashore carries out studies, tests, and counsels patients with genetic diseases.
Education and Training
Yale Univ Sch of Med, New Haven Ct 1965
Board Certification
Medical GeneticsAmerican Board of Medical GeneticsABMG
PediatricsAmerican Board of PediatricsABP
Provider Details
Expert Publications
Data provided by the National Library of Medicine- Development of guidelines for treatment of children with phenylketonuria: report of a meeting at the National Institute of Child Health and Human Development held August 15, 1995, National Institutes of Health, Bethesda, Maryland.
- Management of phenylketonuria for optimal outcome: a review of guidelines for phenylketonuria management and a report of surveys of parents, patients, and clinic directors.
- Genetic screening and the pediatrician.
- Universal screening for congenital hearing loss.
- Tetrahydrobiopterin and dietary restriction in mild phenylketonuria.
- Smallest terminal deletion of the long arm of chromosome 2 in a mildly affected boy.
- Normal N-acetylglutamate concentration measured in liver from a new patient with N-acetylglutamate synthetase deficiency: physiologic and biochemical implications.
- Microarray-based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics.
- Introduction: new technologies for genetic and newborn screening.
- Neonatal screening for inborn errors of metabolism: update.
- Prenatal diagnosis of hematologic disorders.
- Neurofibromatosis: clinical and genetic features.
- New developments in screening for genetic disease.
- New developments in screening for genetic disease.
- Prenatal findings in a case of spondylocostal dysplasia type I (Jarcho-Levin syndrome).
Dr. Margretta R Seashore MD's Practice location
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20 York St Children's Hospital -New Haven, CT 06510Get Direction
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