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Wallid Deb

Showing results (1-10 of 36) with videos related to

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Genes & Diseases|September 2, 2024
Understanding neurodevelopmental proteasomopathies as new rare disease entities: A review of current concepts, molecular biomarkers, and perspectivesSilvestre Cuinat, Stéphane Bézieau, Wallid Deb, et al.
Medecine Sciences : M/S|February 27, 2024
[Neurodevelopmental proteasomopathies: New disorders caused by proteasome dysfunction]Silvestre Cuinat, Stéphane Bézieau, Wallid Deb, et al.
European Journal of Human Genetics : EJHG|April 21, 2026
Revisiting LSDMCA: male lethality escape and genotype-phenotype correlationsAlfonso Manuel D'Alessio, Alessia Indrieri, Giuseppina Vitiello, et al.
Ebiomedicine|August 21, 2025
Ubiquitin-proteasome system dysregulation in FAM111B-related poikiloderma and phenotypic spectrum expansion: new case reports and long-term follow-upVirginie Vignard, Mike Maillasson, Anne Bigot, et al.
European Journal of Medical Genetics|March 7, 2024
Penetrance, variable expressivity and monogenic neurodevelopmental disordersServane de Masfrand, Benjamin Cogné, Mathilde Nizon, et al.
Journal of Medical Genetics|September 17, 2025
Heterozygous alterations of <i>GTF2I</i> at the Williams-Beuren syndrome's locus cause a neurodevelopmental disorderJeanne Jury, Thomas Besnard, Wallid Deb, et al.
Clinical Genetics|May 20, 2025
Clinical and Neurodevelopmental Characteristics of Paralogous Gain-of-Function Variants at GRIA2 p.Gly792 and GRIA3 p.Gly803Emilie Sjøstrøm, Dorota Studniarczyk, Xinyao Dou, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 13, 2025
C-terminal frameshift variants in GPKOW are associated with a multisystemic X-linked disorderJung-Wan Mok, Laura Mackay, Maria Blazo, et al.
Nature Communications|January 26, 2018
Parallel derivation of isogenic human primed and naive induced pluripotent stem cellsStéphanie Kilens, Dimitri Meistermann, Diego Moreno, et al.
Human Genetics|July 6, 2018
Expanding the phenotype of the X-linked BCOR microphthalmia syndromesNicola Ragge, Bertrand Isidor, Pierre Bitoun, et al.
Pageof 4

Showing results (1-10 of 36) with videos related to

Sort By:
Pageof 4
Genes & Diseases|September 2, 2024
Understanding neurodevelopmental proteasomopathies as new rare disease entities: A review of current concepts, molecular biomarkers, and perspectivesSilvestre Cuinat, Stéphane Bézieau, Wallid Deb, et al.
Medecine Sciences : M/S|February 27, 2024
[Neurodevelopmental proteasomopathies: New disorders caused by proteasome dysfunction]Silvestre Cuinat, Stéphane Bézieau, Wallid Deb, et al.
European Journal of Human Genetics : EJHG|April 21, 2026
Revisiting LSDMCA: male lethality escape and genotype-phenotype correlationsAlfonso Manuel D'Alessio, Alessia Indrieri, Giuseppina Vitiello, et al.
Ebiomedicine|August 21, 2025
Ubiquitin-proteasome system dysregulation in FAM111B-related poikiloderma and phenotypic spectrum expansion: new case reports and long-term follow-upVirginie Vignard, Mike Maillasson, Anne Bigot, et al.
European Journal of Medical Genetics|March 7, 2024
Penetrance, variable expressivity and monogenic neurodevelopmental disordersServane de Masfrand, Benjamin Cogné, Mathilde Nizon, et al.
Journal of Medical Genetics|September 17, 2025
Heterozygous alterations of <i>GTF2I</i> at the Williams-Beuren syndrome's locus cause a neurodevelopmental disorderJeanne Jury, Thomas Besnard, Wallid Deb, et al.
Clinical Genetics|May 20, 2025
Clinical and Neurodevelopmental Characteristics of Paralogous Gain-of-Function Variants at GRIA2 p.Gly792 and GRIA3 p.Gly803Emilie Sjøstrøm, Dorota Studniarczyk, Xinyao Dou, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 13, 2025
C-terminal frameshift variants in GPKOW are associated with a multisystemic X-linked disorderJung-Wan Mok, Laura Mackay, Maria Blazo, et al.
Nature Communications|January 26, 2018
Parallel derivation of isogenic human primed and naive induced pluripotent stem cellsStéphanie Kilens, Dimitri Meistermann, Diego Moreno, et al.
Human Genetics|July 6, 2018
Expanding the phenotype of the X-linked BCOR microphthalmia syndromesNicola Ragge, Bertrand Isidor, Pierre Bitoun, et al.
Pageof 4