P. Galvin-Parton

发表

High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype–Phenotype Correlation

Ying Liu, Jing Xie, Eric Legius, 2015, Human mutation.

G Proteins Regulating Insulin Action and Obesity

P. Galvin-Parton, Hsien-yu Wang, C. Malbon, 1998 .

Newborn screening for Krabbe disease: the New York State model.

B. Kosofsky, T. Naidich, J. Provenzale, 2009, Pediatric neurology.

Newborn screening for Krabbe disease in New York State: the first eight years’ experience

Matthew J. Nichols, J. Kurtzberg, P. Galvin-Parton, 2016, Genetics in Medicine.

Severe toxicity following induction chemotherapy for acute myelogenous leukemia in a patient with Werner's syndrome

P. Galvin-Parton, T. Ahmed, K. Seiter, 2005, Leukemia & lymphoma.

Prospective identification by neonatal screening of patients with guanidinoacetate methyltransferase deficiency.

N. Longo, P. Galvin-Parton, M. Pasquali, 2021, Molecular genetics and metabolism.

Glucose metabolism and insulin secretion in a patient with ABCC8 mutation and Fanconi–Bickel syndrome caused by maternal isodisomy of chromosome 3

C. Stanley, P. Galvin-Parton, R. Santer, 2007, Clinical genetics.

Improved growth and nutrition status in children with methylmalonic or propionic acidemia fed an elemental medical food.

H. Bock, R. Steiner, P. Galvin-Parton, 2003, Molecular genetics and metabolism.

Lack of genotype-phenotype correlations and outcome in MCAD deficiency diagnosed by newborn screening in New York State.

Matthew J. Nichols, P. Galvin-Parton, M. Caggana, 2010, Molecular genetics and metabolism.

Induction of Gαq-specific Antisense RNA in Vivo Causes Increased Body Mass and Hyperadiposity*

P. Galvin-Parton, C. Malbon, C. Moxham, 1997, The Journal of Biological Chemistry.

Deficient activity of alanyl‐tRNA synthetase underlies an autosomal recessive syndrome of progressive microcephaly, hypomyelination, and epileptic encephalopathy

A. Barkovich, P. Galvin-Parton, R. Hill, 2017, Human mutation.

Congenital nasal pyriform aperture stenosis associated with central diabetes insipidus.

P. Galvin-Parton, M. Zérah, T. Wilson, 2000, The Journal of pediatrics.

Screening for GALC to make neonatal diagnosis and initial neonatal stem cell treatment with umbilical cord blood

P. Galvin-Parton, 2003, Pediatric transplantation.

Retinoic acid modulation of transmembrane signaling. Analysis in F9 teratocarcinoma cells.

P. Galvin-Parton, C. Malbon, D. C. Watkins, 1990, The Journal of biological chemistry.

[20]In vivo analysis of signaling elements via targeted, inducible antisense RNA

P. Galvin-Parton, Hsien-yu Wang, C. Malbon, 1996 .

Clinical outcomes of children with abnormal newborn screening results for Krabbe disease in New York State

T. Naidich, J. Provenzale, J. Kurtzberg, 2016, Genetics in Medicine.

Mutation analysis and embryonic expression of the HLXB9 Currarino syndrome gene.

P. Scambler, W. Reardon, R. Winter, 2000, American journal of human genetics.

Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848

E. Zackai, G. Mortier, David T. Miller, 2017, American journal of human genetics.

Ethnically diverse causes of Walker‐Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East

C. Walsh, W. Dobyns, Karen R Schmidt, 2008, Human mutation.

Continuous Glucose Monitoring in the Management of Hypoglycemia in TANGO2

P. Galvin-Parton, A. Lane, K. Tafuri, 2021 .

The genetic basis for bronchopulmonary dysplasia.

P. Galvin-Parton, L. Parton, Ioana-Alinea Cristea, 2006, Frontiers in bioscience : a journal and virtual library.

Mosaic variegated aneuploidy with growth hormone deficiency and congenital heart defects.

P. Galvin-Parton, Andrew H. Lane, T. Wilson, 2002, American journal of medical genetics.