Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Thomas Smol

Showing results (41-50 of 92) with videos related to

Pageof 10
Sort By:
Human Mutation|July 17, 2022
Deep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patientsJuliette Coursimault, Kévin Cassinari, François Lecoquierre, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|March 12, 2026
Missense Variants in the A Isoform of FGF13 as a Novel Cause of Paroxysmal DyskinesiaCyril Mignot, Matthildi Athina Papathanasiou Terzi, Claudia Ravelli, et al.
Clinical Genetics|January 21, 2025
The Phenotypic and Genotypic Spectrum of BRPF1-Related Disorder: 29 New Patients and Literature ReviewCindy Colson, Marine Tessarech, Elise Boucher-Brischoux, et al.
American Journal of Human Genetics|May 14, 2019
HNRNPR Variants that Impair Homeobox Gene Expression Drive Developmental Disorders in HumansFloor A Duijkers, Andrew McDonald, Georges E Janssens, et al.
Human Mutation|April 1, 2020
TAR syndrome: Clinical and molecular characterization of a cohort of 26 patients and description of novel noncoding variants of RBM8ASimon Boussion, Fabienne Escande, Anne-Sophie Jourdain, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|April 1, 2018
Delineating the psychiatric and behavioral phenotype of recurrent 2q13 deletions and duplicationsKate Wolfe, Andrew McQuillin, Viola Alesi, et al.
Clinical Genetics|April 13, 2020
Further delineation of the female phenotype with KDM5C disease causing variants: 19 new individuals and review of the literatureVirginie Carmignac, Sophie Nambot, Daphné Lehalle, et al.
Clinical Genetics|June 6, 2026
Novel Variants in PUS7 Associated With Intellectual Disability and Growth Retardation: Expanding the Clinical Spectrum in 13 PatientsCamille Bergès, Clément Sauvestre, Sophie Naudion, et al.
Genes|August 27, 2021
A Case Series of Familial <i>ARID1B</i> Variants Illustrating Variable Expression and Suggestions to Update the ACMG CriteriaPleuntje J van der Sluijs, Mariëlle Alders, Alexander J M Dingemans, et al.
Haematologica|December 22, 2018
Poor prognosis of chromosome 7 clonal aberrations in Philadelphia-negative metaphases and relevance of potential underlying myelodysplastic features in chronic myeloid leukemiaAudrey Bidet, Stéphanie Dulucq, Thomas Smol, et al.
Pageof 10

Showing results (41-50 of 92) with videos related to

Sort By:
Pageof 10
Human Mutation|July 17, 2022
Deep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patientsJuliette Coursimault, Kévin Cassinari, François Lecoquierre, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|March 12, 2026
Missense Variants in the A Isoform of FGF13 as a Novel Cause of Paroxysmal DyskinesiaCyril Mignot, Matthildi Athina Papathanasiou Terzi, Claudia Ravelli, et al.
Clinical Genetics|January 21, 2025
The Phenotypic and Genotypic Spectrum of BRPF1-Related Disorder: 29 New Patients and Literature ReviewCindy Colson, Marine Tessarech, Elise Boucher-Brischoux, et al.
American Journal of Human Genetics|May 14, 2019
HNRNPR Variants that Impair Homeobox Gene Expression Drive Developmental Disorders in HumansFloor A Duijkers, Andrew McDonald, Georges E Janssens, et al.
Human Mutation|April 1, 2020
TAR syndrome: Clinical and molecular characterization of a cohort of 26 patients and description of novel noncoding variants of RBM8ASimon Boussion, Fabienne Escande, Anne-Sophie Jourdain, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|April 1, 2018
Delineating the psychiatric and behavioral phenotype of recurrent 2q13 deletions and duplicationsKate Wolfe, Andrew McQuillin, Viola Alesi, et al.
Clinical Genetics|April 13, 2020
Further delineation of the female phenotype with KDM5C disease causing variants: 19 new individuals and review of the literatureVirginie Carmignac, Sophie Nambot, Daphné Lehalle, et al.
Clinical Genetics|June 6, 2026
Novel Variants in PUS7 Associated With Intellectual Disability and Growth Retardation: Expanding the Clinical Spectrum in 13 PatientsCamille Bergès, Clément Sauvestre, Sophie Naudion, et al.
Genes|August 27, 2021
A Case Series of Familial <i>ARID1B</i> Variants Illustrating Variable Expression and Suggestions to Update the ACMG CriteriaPleuntje J van der Sluijs, Mariëlle Alders, Alexander J M Dingemans, et al.
Haematologica|December 22, 2018
Poor prognosis of chromosome 7 clonal aberrations in Philadelphia-negative metaphases and relevance of potential underlying myelodysplastic features in chronic myeloid leukemiaAudrey Bidet, Stéphanie Dulucq, Thomas Smol, et al.
Pageof 10