
Last Updated: 09/26/2026
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Found 15 publications
Newborn screening for Duchenne muscular dystrophy: A two-year pilot study.
Journal: Annals of clinical and translational neurology
Published: March 15, 2023
Improving Recruitment for a Newborn Screening Pilot Study with Adaptations in Response to the COVID-19 Pandemic.
Journal: International journal of neonatal screening
Published: February 04, 2022
Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide.
Journal: European journal of human genetics : EJHG
Published: November 27, 2019
Precision oncology: lessons learned and challenges for the future.
Journal: Cancer management and research
Published: January 12, 2019
Video Education on Hereditary Breast and Ovarian Cancer (HBOC) for Physicians: an Interventional Study.
Journal: Journal of cancer education : the official journal of the American Association for Cancer Education
Published: June 03, 2017
KBG syndrome involving a single-nucleotide duplication in ANKRD11.
Journal: Cold Spring Harbor molecular case studies
Published: December 01, 2016
SCN8A mutation in a child presenting with seizures and developmental delays.
Journal: Cold Spring Harbor molecular case studies
Published: December 01, 2016
Acceptance of technology-based tools in a sample of Parkinson's patients.
Journal: Chronic illness
Published: June 09, 2016
Physician knowledge of ethnicity specific differences in BRCA genetic testing.
Journal: The breast journal
Published: September 25, 2014
Physician Risk Assessment Knowledge Regarding BRCA Genetics Testing.
Journal: Journal of cancer education : the official journal of the American Association for Cancer Education
Published: September 20, 2014
De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum.
Journal: Human genetics
Published: August 15, 2014
Last Updated: 09/26/2026