Wallid Deb
Nantes, France
Last Updated: 09/26/2026
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Found 39 publications
DE NOVO VARIANTS IN THE POLY(RC)-BINDING PROTEIN GENE PCBP1 CAUSE A NEURODEVELOPMENTAL DISORDER.
Journal: medRxiv : the preprint server for health sciences
Published: December 19, 2025
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.
Journal: American journal of human genetics
Published: October 19, 2025
Revisiting LSDMCA: male lethality escape and genotype-phenotype correlations.
Journal: European journal of human genetics : EJHG
Published: August 25, 2025
Heterozygous alterations of GTF2I at the Williams-Beuren syndrome's locus cause a neurodevelopmental disorder.
Journal: Journal of medical genetics
Published: November 05, 2024
Clinical and Neurodevelopmental Characteristics of Paralogous Gain-of-Function Variants at GRIA2 p.Gly792 and GRIA3 p.Gly803.
Journal: Clinical genetics
Published: October 28, 2024
C-terminal frameshift variants in GPKOW are associated with a multisystemic X-linked disorder.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 21, 2024
DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders.
DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders.
Journal: American journal of human genetics
Published: July 24, 2024
Ubiquitin-proteasome system dysregulation in FAM111B-related poikiloderma and phenotypic spectrum expansion: new case reports and long-term follow-up.
Journal: EBioMedicine
Published: April 29, 2024
Further delineation of the SCAF4-associated neurodevelopmental disorder.
Journal: European journal of human genetics : EJHG
Published: April 23, 2024
Upregulation versus loss of function of NTRK2 in 44 affected individuals leads to 2 distinct neurodevelopmental disorders.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: April 10, 2024
Neurodevelopmental proteasomopathies: New disorders caused by proteasome dysfunction
Journal: Medecine sciences : M/S
Published: February 27, 2024
Last Updated: 09/26/2026