Last Updated: 09/26/2026
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Found 9 publications
Recommending revised hepatoblastoma surveillance in children with a pathogenic ARID1A variant. Reply to "Cancer in ARID1A-Coffin-Siris syndrome: Review and report of a child with hepatoblastoma" by Cárcamo et al. 2022.
Journal: European journal of medical genetics
Published: October 28, 2022
Health Supervision for Children and Adolescents With Down Syndrome.
Journal: Pediatrics
Published: May 01, 2022
Correction: GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: February 13, 2020
GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: August 23, 2019
CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: April 03, 2019
Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: January 31, 2019
The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: July 10, 2018
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Last Updated: 09/26/2026