Last Updated: 09/26/2026
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Found 11 publications
Challenges in Interpretation and Reporting of Gross, Histologic, and Genetic Autopsy Findings: The Importance of Postmortem Genetic Testing and Multidisciplinary Teams.
Journal: The American journal of forensic medicine and pathology
Published: June 05, 2025
A Multidisciplinary Approach to Navigating Variants of Uncertain Significance in Sudden Infant Deaths: A Case Report of 2 Siblings With an SCN10A VUS.
Journal: The American journal of forensic medicine and pathology
Published: January 02, 2025
Decoding Hearts: Genetic Insights and Clinical Strategies in Congenital Heart Disease.
Journal: NeoReviews
Published: July 01, 2024
Congenital glottic stenosis as a clinical manifestation of FREM1-associated disorders in a neonate with respiratory distress and aphonia.
Journal: BMJ case reports
Published: May 08, 2024
Exercise-induced QTc prolongation and implications for military service members: A case series.
Journal: HeartRhythm case reports
Published: December 04, 2023
"Hole" Exome Sequences: The Importance of Phenotyping to Fill the Gaps in Whole Exome Sequencing.
Journal: Pediatric neurology
Published: July 19, 2023
Dilemmas in the diagnosis and management of osteoporosis in a patient with alkaptonuria: Successful treatment with teriparatide.
Journal: Clinical case reports
Published: August 02, 2022
Hypoglycemia Due to Acquired Carnitine Deficiency in a Pediatric Patient Receiving Chemotherapy.
Journal: Journal of pediatric hematology/oncology
Published: December 02, 2020
PYKNODYSOSTOSIS (OSTEOPETROSIS ACRO-OSTEOLYTICA).
Journal: AACE clinical case reports
Published: March 26, 2020
Tetraploid-diploid mosaicism in a patient with pigmentary anomalies of hair and skin: a new dermatologic feature.
Journal: Clinical case reports
Published: January 21, 2017
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Last Updated: 09/26/2026