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Paul Kuentz

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Journal of Medical Genetics|April 12, 2020

Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disabilityMartin Chevarin, Yannis Duffourd, Rebecca A Barnard, et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 4, 2021

Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorderJérémie Courraud, Eric Chater-Diehl, Benjamin Durand, et al.

European Journal of Human Genetics : EJHG|June 25, 2025

Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterizationCamille Engel, Michaela Rendek, Jessica Assoumani, et al.

Molecular Genetics & Genomic Medicine|January 29, 2024

Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disordersValentin Ruault, Pauline Burger, Johanna Gradels-Hauguel, et al.

European Journal of Human Genetics : EJHG|June 21, 2023

BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patientsCamille Engel, Stéphanie Valence, Geoffroy Delplancq, et al.

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Search research articles

Showing results (71-80 of 75) with videos related to

Sort By:

Pageof 8

You have reached the last page of results.This site can display upto 75 results.

Journal of Medical Genetics|April 12, 2020

Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disabilityMartin Chevarin, Yannis Duffourd, Rebecca A Barnard, et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 4, 2021

Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorderJérémie Courraud, Eric Chater-Diehl, Benjamin Durand, et al.

European Journal of Human Genetics : EJHG|June 25, 2025

Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterizationCamille Engel, Michaela Rendek, Jessica Assoumani, et al.

Molecular Genetics & Genomic Medicine|January 29, 2024

Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disordersValentin Ruault, Pauline Burger, Johanna Gradels-Hauguel, et al.

European Journal of Human Genetics : EJHG|June 21, 2023

BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patientsCamille Engel, Stéphanie Valence, Geoffroy Delplancq, et al.

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