Last Updated: 09/26/2026
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Found 5 publications
Siblings with vitamin D-dependent rickets type 1A: Importance of genetic testing and a review of genotype-phenotype correlations.
Journal: American journal of medical genetics. Part A
Published: March 12, 2024
Phenotypes Associated with 16p11.2 Copy Number Gains and Losses at a Single Institution.
Journal: Laboratory medicine
Published: June 16, 2020
Efficacy of therapeutic plasma exchange in reducing the incidence of recurrent pancreatitis related to familial chylomicronemia.
Journal: Transfusion
Published: June 17, 2019
Persistence of müllerian duct structures in a genetic male with distal monosomy 10q.
Journal: American journal of medical genetics. Part A
Published: November 22, 2014
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Last Updated: 09/26/2026