Last Updated: 09/26/2026
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Found 10 publications
Hematologic Variations in Children With Down Syndrome.
Journal: Journal of pediatric hematology/oncology
Published: September 29, 2024
Massachusetts' Findings from Statewide Newborn Screening for Spinal Muscular Atrophy.
Journal: International journal of neonatal screening
Published: April 28, 2021
Ten Years of Newborn Screening for Severe Combined Immunodeficiency (SCID) in Massachusetts.
Journal: The journal of allergy and clinical immunology. In practice
Published: September 27, 2020
Noonan syndrome with loose anagen hair associated with trichorrhexis nodosa and trichoptilosis.
Journal: Clinical case reports
Published: October 28, 2016
WRN Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects.
Journal: Human mutation
Published: July 26, 2016
De novo mutations in PURA are associated with hypotonia and developmental delay.
Journal: Cold Spring Harbor molecular case studies
Published: May 06, 2016
The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: January 20, 2016
Dystrophic epidermolysis bullosa associated with amniotic band syndrome.
Journal: Pediatric dermatology
Published: January 04, 2014
Showing 1-10 of 10
Last Updated: 09/26/2026