Koolen De Vries Syndrome Latest Advances
Find the Latest Research About Koolen De Vries Syndrome
Last Updated: 02/24/2026
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Found 9 publications
AAC barriers and facilitators for children with Koolen de Vries syndrome and childhood apraxia of speech: parent perceptions.
Journal: Augmentative and alternative communication (Baltimore, Md. : 1985)
Published: June 21, 2022
The diagnosis of the first-documented intragenic KANSL1 microduplication patient broadens the genetic spectrum of Koolen de Vries syndrome.
Journal: Clinical genetics
Published: October 22, 2021
Aberrant right subclavian artery leading to prenatal diagnosis of Koolen de Vries syndrome.
Journal: Ginekologia polska
Published: March 17, 2021
Clinical Genetics Can Solve the Pitfalls of Genome-Wide Investigations: Lesson from Mismapping a Loss-of-Function Variant in KANSL1.
Journal: Genes
Published: August 31, 2020
Variable expressivity of syndromic BMP4-related eye, brain, and digital anomalies: A review of the literature and description of three new cases.
Journal: European journal of human genetics : EJHG
Published: September 07, 2018
Early speech development in Koolen de Vries syndrome limited by oral praxis and hypotonia.
Journal: European journal of human genetics : EJHG
Published: May 19, 2017
Molecular Characterization of Koolen De Vries Syndrome in Two Girls with Idiopathic Intellectual Disability from Central Brazil.
Journal: Molecular syndromology
Published: January 02, 2017
Adaptive and maladaptive functioning in Kleefstra syndrome compared to other rare genetic disorders with intellectual disabilities.
Journal: American journal of medical genetics. Part A
Published: June 29, 2016
Koolen de Vries syndrome: A challenge in clinical practice
Journal: Anales de pediatria (Barcelona, Spain : 2003)
Published: May 04, 2016
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Last Updated: 02/24/2026