Last Updated: 09/26/2026
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Found 18 publications
35 Individuals With HUWE1-Related Neurodevelopmental Disorder and Suggested Clinical Evaluations.
Journal: American journal of medical genetics. Part A
Published: July 14, 2025
A new case of rhabdomyosarcoma in a patient with Mowat-Wilson syndrome.
Journal: Clinical dysmorphology
Published: June 20, 2025
Pediatric epilepsy: a dual diagnosis of SCMARCA2 -Nicolaides-Baraitser syndrome and CHRNB2 -nocturnal-frontal-lobe epilepsy.
Journal: Clinical dysmorphology
Published: May 20, 2025
A novel spliceosomopathy caused by de novo SF3B3 variants.
Journal: Genome medicine
Published: April 26, 2025
Cardio-Respiratory Complications in Adult Monozygotic Twins With Myhre Syndrome.
Journal: American journal of medical genetics. Part C, Seminars in medical genetics
Published: March 17, 2025
A New Case Linking a Somatic NRAS Variant to Encephalocraniocutaneous Lipomatosis.
Journal: American journal of medical genetics. Part A
Published: February 17, 2025
TYMS-ENOSF1 Dyskeratosis Congenita in a Patient With Ring Chromosome 18: A Case Report.
Journal: American journal of medical genetics. Part A
Published: February 03, 2025
Variants of Uncertain Significance in Vascular Anomalies: The Role of Reclassification.
Journal: Pediatric blood & cancer
Published: October 28, 2024
Retrospective Cohort Analysis of Clinical, Molecular, and Histopathologic Characteristics of 275 Patients With Nemaline Myopathy.
Journal: Neurology. Genetics
Published: April 26, 2024
Novel CHRNA3 variants identified in a patient with bladder dysfunction, dysautonomia, and gastrointestinal dysmotility.
Journal: American journal of medical genetics. Part A
Published: October 16, 2023
Multiple Acyl-Coenzyme A Dehydrogenase Deficiency Leading to Severe Metabolic Acidosis in a Young Adult.
Journal: AACE clinical case reports
Published: August 15, 2022
Quality of care metrics for patients with inborn errors of metabolism.
Journal: Molecular genetics and metabolism
Published: January 12, 2022
Last Updated: 09/26/2026