Last Updated: 09/26/2026
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Found 10 publications
Newborn Screening for Gaucher Disease: The New Jersey Experience.
Journal: International journal of neonatal screening
Published: February 28, 2025
A late presentation of TPM3 myopathy presenting as sleep hypoventilation in the setting of acute demyelinating encephalomyelitis.
Journal: Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine
Published: August 01, 2022
A Rare Case Report of 17q23.1q23.2 Microdeletion With Homozygosity of 11p11.2q13.4 in a Newborn.
Journal: Cureus
Published: March 18, 2022
A homozygous splice variant in ATP5PO, disrupts mitochondrial complex V function and causes Leigh syndrome in two unrelated families.
Journal: Journal of inherited metabolic disease
Published: March 17, 2022
GNA11 brain somatic pathogenic variant in an individual with phacomatosis pigmentovascularis.
Journal: Neurology. Genetics
Published: May 12, 2019
High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.
Journal: American journal of human genetics
Published: June 27, 2017
Autophagy: basic principles and relevance to transplant immunity.
Journal: American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons
Published: November 20, 2013
Costimulatory blockade-induced allograft survival requires Beclin1.
Journal: American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons
Published: August 22, 2013
Inhibitory effects of pirfenidone on dendritic cells and lung allograft rejection.
Journal: Transplantation
Published: June 30, 2012
Indoleamine 2,3-dioxygenase and metabolites protect murine lung allografts and impair the calcium mobilization of T cells.
Journal: American journal of respiratory cell and molecular biology
Published: April 21, 2012
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Last Updated: 09/26/2026