Last Updated: 09/26/2026
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Found 10 publications
A Case Study of a Female Infant With Primary Hypertrophic Osteoarthropathy Demonstrates That Early Initiation of Celecoxib Slows but Does Not Prevent Symptom Progression.
Journal: American journal of medical genetics. Part A
Published: September 13, 2024
Long-Term Renal Transplant Success Is Possible in Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia Syndrome: A Case Report.
Journal: Molecular syndromology
Published: August 16, 2024
A Dual Diagnosis of Okur-Chung Neurodevelopmental Syndrome and Becker Muscular Dystrophy: Inquiry Into the Lower Limits of Neurodevelopmental Functioning Attributable to Muscular Dystrophy.
Journal: Brain and behavior
Published: July 23, 2024
The phenotypic spectrum of the Cornelia de Lange-like "Alazami-Yuan syndrome": A case report of the 7th diagnosed individual and review of the literature.
Journal: Clinical case reports
Published: May 17, 2024
Dual Diagnosis of Fragile X Syndrome and DEPDC5-Related Disorder Emphasizes DEPDC5's Role Beyond Familial Epilepsy: A Case Report and Literature Review.
Journal: Case reports in genetics
Published: February 05, 2024
Deleterious variants in TNFAIP3 are associated with type II and seronegative pediatric autoimmune hepatitis.
Journal: Journal of hepatology
Published: August 21, 2023
A Case of Lateral Meningocele Syndrome without Lateral Meningoceles.
Journal: Molecular syndromology
Published: July 12, 2023
Phenotypic variability in Joubert syndrome is partially explained by ciliary pathophysiology.
Journal: Annals of human genetics
Published: June 30, 2023
ARF1-related disorder: phenotypic and molecular spectrum.
Journal: Journal of medical genetics
Published: August 09, 2022
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Last Updated: 09/26/2026