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Genes & Diseases
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September 2, 2024
Understanding neurodevelopmental proteasomopathies as new rare disease entities: A review of current concepts, molecular biomarkers, and perspectives
Silvestre 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.
Neurogenetics
|
January 8, 2026
Dystonia-deafness syndrome 1 caused by ACTB p.(Arg183Trp) de novo variant: one novel case extending the phenotypic spectrum
Silvestre Cuinat, Tiphaine Rouaud, Thomas Besnard, et al.
European Journal of Medical Genetics
|
September 27, 2023
PHGDH-related microcephalic dwarfism in two fetuses: Expanding the phenotypical spectrum of L-serine biosynthesis defect
Silvestre Cuinat, Chloé Quélin, Laurent Pasquier, et al.
Plos Genetics
|
December 16, 2024
A Taybi-Linder syndrome-related RTTN variant impedes neural rosette formation in human cortical organoids
Justine Guguin, Ting-Yu Chen, Silvestre Cuinat, et al.
Neurology. Genetics
|
February 28, 2025
Acid Ceramidase Deficiency: New Insights on SMA-PME Natural History, Biomarkers, and <i>In Cell</i> Enzyme Activity Assay
Silvestre Cuinat, Paul Rollier, Katheryn Grand, et al.
Arthritis & Rheumatology (Hoboken, N.J.)
|
June 9, 2020
Clinical and Molecular Spectrum of Nonsyndromic Early-Onset Osteoarthritis
Valentin Ruault, Kevin Yauy, Aurélie Fabre, et al.
European Journal of Human Genetics : EJHG
|
March 21, 2025
XRCC4-related microcephalic primordial dwarfism: description of a clinical series of 7 cases, phenotype expansion and new diagnostic approaches
Silvestre Cuinat, Nicolas Chatron, Florence Petit, 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 disorder
Jung-Wan Mok, Laura Mackay, Maria Blazo, et al.
Clinical Genetics
|
April 26, 2022
Understanding the new BRD4-related syndrome: Clinical and genomic delineation with an international cohort study
Guillaume Jouret, Solveig Heide, Arthur Sorlin, et al.
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Search research articles
Search
Showing results (1-10 of 20) with videos related to
Sort By:
Page
of 2
Genes & Diseases
|
September 2, 2024
Understanding neurodevelopmental proteasomopathies as new rare disease entities: A review of current concepts, molecular biomarkers, and perspectives
Silvestre 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.
Neurogenetics
|
January 8, 2026
Dystonia-deafness syndrome 1 caused by ACTB p.(Arg183Trp) de novo variant: one novel case extending the phenotypic spectrum
Silvestre Cuinat, Tiphaine Rouaud, Thomas Besnard, et al.
European Journal of Medical Genetics
|
September 27, 2023
PHGDH-related microcephalic dwarfism in two fetuses: Expanding the phenotypical spectrum of L-serine biosynthesis defect
Silvestre Cuinat, Chloé Quélin, Laurent Pasquier, et al.
Plos Genetics
|
December 16, 2024
A Taybi-Linder syndrome-related RTTN variant impedes neural rosette formation in human cortical organoids
Justine Guguin, Ting-Yu Chen, Silvestre Cuinat, et al.
Neurology. Genetics
|
February 28, 2025
Acid Ceramidase Deficiency: New Insights on SMA-PME Natural History, Biomarkers, and <i>In Cell</i> Enzyme Activity Assay
Silvestre Cuinat, Paul Rollier, Katheryn Grand, et al.
Arthritis & Rheumatology (Hoboken, N.J.)
|
June 9, 2020
Clinical and Molecular Spectrum of Nonsyndromic Early-Onset Osteoarthritis
Valentin Ruault, Kevin Yauy, Aurélie Fabre, et al.
European Journal of Human Genetics : EJHG
|
March 21, 2025
XRCC4-related microcephalic primordial dwarfism: description of a clinical series of 7 cases, phenotype expansion and new diagnostic approaches
Silvestre Cuinat, Nicolas Chatron, Florence Petit, 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 disorder
Jung-Wan Mok, Laura Mackay, Maria Blazo, et al.
Clinical Genetics
|
April 26, 2022
Understanding the new BRD4-related syndrome: Clinical and genomic delineation with an international cohort study
Guillaume Jouret, Solveig Heide, Arthur Sorlin, et al.
Page
of 2