Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 18 publications
How I Treat: Immune dysregulation in Down syndrome.
Journal: Journal of human immunity
Published: December 17, 2025
Genetic Basis of Autoinflammatory Skin Diseases. Part II. Clinical Applications in Dermatology.
Journal: Journal of the American Academy of Dermatology
Published: March 11, 2025
Genetic Basis of Autoinflammatory Skin Diseases. Part I. Genetic Pathways of Complex Autoinflammatory Skin Diseases.
Journal: Journal of the American Academy of Dermatology
Published: November 25, 2024
Ultra-rare monogenic disorders frequently detected among sex chromosome aneuploidy patients with atypical findings.
Journal: Journal of human genetics
Published: September 17, 2024
Correction: Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals.
Journal: European journal of human genetics : EJHG
Published: July 26, 2024
A novel leucine zipper-like transcriptional regulator 1 variant identified in a pair of siblings with familial schwannomatosis.
Journal: Surgical neurology international
Published: March 16, 2024
Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals.
Journal: European journal of human genetics : EJHG
Published: February 03, 2024
Characterization of the prenatal renal phenotype associated with 17q12, HNF1B, microdeletions.
Journal: Prenatal diagnosis
Published: March 31, 2023
Multiple Mitochondrial Dysfunction Syndrome Type 3: A Likely Pathogenic Homozygous Variant Affecting a Patient of Cuban Descent and Literature Review.
Journal: Genes
Published: September 10, 2022
Deletion of first noncoding exon in ANKRD11 leads to KBG syndrome.
Journal: American journal of medical genetics. Part A
Published: August 26, 2022
Unique Case of Congenital Lipomatous Overgrowth With Vascular Malformations, Epidermal Nevi, and Skeletal/Spinal Anomalies Syndrome in a Pediatric Patient.
Journal: Cureus
Published: November 04, 2020
COVID-19 in a child with severe propionic acidemia.
Journal: Pediatrics international : official journal of the Japan Pediatric Society
Published: September 30, 2020
Last Updated: 09/26/2026