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Last Updated: 10/31/2025

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Found 128 publications

ANKRD11 binding to cohesin suggests a connection between KBG syndrome and Cornelia de Lange syndrome.

ANKRD11 binding to cohesin suggests a connection between KBG syndrome and Cornelia de Lange syndrome.

Journal: Proceedings of the National Academy of Sciences of the United States of America
Published: January 23, 2025

Van Maldergem syndrome-1 in a patient with central precocious puberty: A case report.

Van Maldergem syndrome-1 in a patient with central precocious puberty: A case report.

Journal: Medicine
Published: January 23, 2025

Floating-Harbor Syndrome: A Systematic Literature Review and Case Report.

Floating-Harbor Syndrome: A Systematic Literature Review and Case Report.

Journal: Journal of clinical medicine
Published: April 25, 2024

Surgical Management of Hip Dislocation in a Patient with SCARF Syndrome: A Case Report with a 6-Year Follow-up.

Surgical Management of Hip Dislocation in a Patient with SCARF Syndrome: A Case Report with a 6-Year Follow-up.

Journal: JBJS case connector
Published: April 13, 2023

mef2ca and mef2cb Double Mutant Zebrafish Show Altered Craniofacial Phenotype and Motor Behaviour.

mef2ca and mef2cb Double Mutant Zebrafish Show Altered Craniofacial Phenotype and Motor Behaviour.

Journal: Biomolecules
Published: March 28, 2023

Repair of Protruding Bilateral Cleft Lip and Palate With Staged Premaxilla Setback Osteotomy, Cheiloplasty, and Palatoplasty in Trisomy 17p Patient: A Review of Syndromic Clinical Characteristic.

Repair of Protruding Bilateral Cleft Lip and Palate With Staged Premaxilla Setback Osteotomy, Cheiloplasty, and Palatoplasty in Trisomy 17p Patient: A Review of Syndromic Clinical Characteristic.

Journal: The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
Published: December 30, 2021

Identification of de novo EP300 and PLAU variants in a patient with Rubinstein-Taybi syndrome-related arterial vasculopathy and skeletal anomaly.

Identification of de novo EP300 and PLAU variants in a patient with Rubinstein-Taybi syndrome-related arterial vasculopathy and skeletal anomaly.

Journal: Scientific reports
Published: April 27, 2021

Nervous system involvement in Pfeiffer syndrome.

Nervous system involvement in Pfeiffer syndrome.

Journal: Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
Published: June 14, 2020

Six-year follow-up of a survivor of cervical spine fracture and dislocation with oesophageal perforation following long scarf syndrome - a case report and literature review.

Six-year follow-up of a survivor of cervical spine fracture and dislocation with oesophageal perforation following long scarf syndrome - a case report and literature review.

Journal: BMC musculoskeletal disorders
Published: May 14, 2020

Mid-trimester fetal facial dysmorphology associated with 2p25.3 microdeletion.

Mid-trimester fetal facial dysmorphology associated with 2p25.3 microdeletion.

Journal: Journal of clinical ultrasound : JCU
Published: February 24, 2020

Sphenoid sinus agenesis and sella turcica hypoplasia: very rare cases of two brothers with Hamamy syndrome.

Sphenoid sinus agenesis and sella turcica hypoplasia: very rare cases of two brothers with Hamamy syndrome.

Journal: Surgical and radiologic anatomy : SRA
Published: February 24, 2020

Clinical and molecular spectrum of CHOPS syndrome.

Clinical and molecular spectrum of CHOPS syndrome.

Journal: American journal of medical genetics. Part A
Published: December 27, 2018
Showing 1-12 of 128

Last Updated: 10/31/2025