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Last Updated: 10/31/2025
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Found 870 publications
Discovery of a Novel CHD7 CHARGE Syndrome Variant (c.502C>T) by Prenatal Diagnostic Analysis: A Case Report.
Journal: Annals of clinical and laboratory science
Published: September 17, 2025
A Case of CHARGE Syndrome with a Novel Intronic Variant in the CHD7 Gene.
Journal: Journal of clinical research in pediatric endocrinology
Published: September 05, 2025
Multi-omic analyses identify molecular targets of Chd7 that mediate CHARGE syndrome model phenotypes.
Journal: bioRxiv : the preprint server for biology
Published: August 06, 2025
Newborn nasal obstruction: Rare anatomical causes to consider.
Journal: Acta otorrinolaringologica espanola
Published: June 25, 2025
Bilateral Choanal Atresia With Facial Deformity.
Journal: The Journal of craniofacial surgery
Published: June 19, 2025
Esophageal Atresia and Intrathoracic Stomach in a Complex Case of Congenital Anomalies.
Journal: Children (Basel, Switzerland)
Published: June 03, 2025
Ehlers-Danlos syndromes: Diagnosis and care pathway of these complex and multisystemic diseases
Journal: La Revue de medecine interne
Published: May 26, 2025
Prevalence of Dysautonomic Symptoms in CHARGE Syndrome: A Pilot Study of 25 Individuals With CHARGE Syndrome.
Journal: American journal of medical genetics. Part A
Published: May 26, 2025
CHARGE Syndrome in a Six-Month-Old Male Infant: A Case Report.
Journal: Cureus
Published: May 15, 2025
CHD7 binds distinct regions in the Sox11 locus to regulate neuronal differentiation.
Journal: bioRxiv : the preprint server for biology
Published: April 16, 2025
Molecular mechanism, diagnosis, and treatment of VACTERL association.
Journal: Frontiers in pediatrics
Published: April 10, 2025
Last Updated: 10/31/2025