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Last Updated: 01/07/2026
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Found 28 publications
Case Report: Unveiling CHARGE syndrome: a neonatal case study with esophageal atresia and feeding difficulties.
Journal: Frontiers in pediatrics
Published: April 26, 2025
Predicting the clinical trajectory of feeding and swallowing abilities in CHARGE syndrome.
Journal: European journal of pediatrics
Published: July 15, 2022
Prenatal diagnosis of distal 13q deletion syndrome in a fetus with esophageal atresia: a case report and review of the literature.
Journal: Journal of medical case reports
Published: May 16, 2022
Genetic factors in isolated and syndromic laryngeal cleft.
Journal: Paediatric respiratory reviews
Published: March 06, 2019
Mycophenolate mofetil embryopathy: A newly recognized teratogenic syndrome.
Journal: European journal of medical genetics
Published: February 06, 2016
Persistence of left superior vena cava associated to esophageal atresia: presentation of 5 cases
Journal: Revista portuguesa de cirurgia cardio-toracica e vascular : orgao oficial da Sociedade Portuguesa de Cirurgia Cardio-Toracica e Vascular
Published: March 18, 2014
UBE2A deficiency syndrome: a report of two unrelated cases with large Xq24 deletions encompassing UBE2A gene.
Journal: American journal of medical genetics. Part A
Published: March 03, 2014
Oculoauriculovertebral spectrum with radial anomaly in child.
Journal: Journal of family medicine and primary care
Published: January 31, 2014
CHARGE syndrome in a fetus with a large paraesophageal hernia presenting prenatally as esophageal atresia.
Journal: Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology
Published: September 25, 2013
Two cases of CHARGE syndrome with multiple congenital anomalies.
Journal: International ophthalmology
Published: April 29, 2013
Potential teratogenicity of methimazole: exposure of zebrafish embryos to methimazole causes similar developmental anomalies to human methimazole embryopathy.
Journal: Birth defects research. Part B, Developmental and reproductive toxicology
Published: December 21, 2012
Genetic factors in isolated and syndromic esophageal atresia.
Journal: Journal of pediatric gastroenterology and nutrition
Published: April 19, 2011
Last Updated: 01/07/2026