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Thomas Smol

Showing results (11-20 of 92) with videos related to

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Chest|March 8, 2021
Filamin A Mutations: A New Cause of Unexplained Emphysema in Adults?Victor Valentin, Jean-François Bervar, Catherine Vincent-Delorme, et al.
Molecular Cytogenetics|July 7, 2017
Combination of t(4;14), del(17p13), del(1p32) and 1q21 gain FISH probes identifies clonal heterogeneity and enhances the detection of adverse cytogenetic profiles in 233 newly diagnosed multiple myelomaThomas Smol, Annika Dufour, Sabine Tricot, et al.
Journal of Assisted Reproduction and Genetics|May 22, 2024
Identification of a novel CFAP61 homozygous splicing variant associated with multiple morphological abnormalities of the flagellaAnne-Laure Barbotin, Angèle Boursier, Anne-Sophie Jourdain, et al.
Journal of Medical Genetics|August 24, 2024
Splice site variants in the canonical donor site of <i>MED13L</i> exon 7 lead to intron retention in patients with <i>MED13L</i> syndromeJade Fauqueux, Simon Boussion, Caroline Thuillier, et al.
Human Genomics|April 5, 2026
Compound heterozygous structural variants resulting in CNTNAP2 biallelic loss-of-function: rare mechanisms unveiled by genome sequencingJade Fauqueux, Roseline Caumes, Cindy Colson, et al.
Genes, Chromosomes & Cancer|May 23, 2026
The t(X;5)(q13;q33) Translocation in Myeloid Neoplasms Is Preferentially Associated With Chronic Myelomonocytic Leukemia: A Report From the Groupe Francophone de Cytogénétique HématologiqueFlorence Nguyen-Khac, Marc Muller, Agnes Daudignon, et al.
European Journal of Human Genetics : EJHG|June 8, 2017
Cerebellar hypoplasia with endosteal sclerosis is a POLR3-related disorderJamal Ghoumid, Florence Petit, Odile Boute-Benejean, et al.
Human Genomics|March 14, 2026
Resolving non‑coding splice‑altering variants using an integrative genomic and transcriptomic workflow: application to FOXP1Pauline Planté-Bordeneuve, Anne-Sophie Jourdain, Caroline Thuillier, et al.
American Journal of Medical Genetics. Part A|July 13, 2024
Expanded phenotypic spectrum of UDP-glucose-6-dehydrogenase recessive neurodevelopmental disorder: Two novel descriptions with or without epileptic encephalopathyPauline Plante-Bordeneuve, Simon Boussion, Mélanie Rama, et al.
Neurogenetics|December 12, 2019
Neurodevelopmental phenotype associated with CHD8-SUPT16H duplicationThomas Smol, Caroline Thuillier, Elise Boudry-Labis, et al.
Pageof 10

Showing results (11-20 of 92) with videos related to

Sort By:
Pageof 10
Chest|March 8, 2021
Filamin A Mutations: A New Cause of Unexplained Emphysema in Adults?Victor Valentin, Jean-François Bervar, Catherine Vincent-Delorme, et al.
Molecular Cytogenetics|July 7, 2017
Combination of t(4;14), del(17p13), del(1p32) and 1q21 gain FISH probes identifies clonal heterogeneity and enhances the detection of adverse cytogenetic profiles in 233 newly diagnosed multiple myelomaThomas Smol, Annika Dufour, Sabine Tricot, et al.
Journal of Assisted Reproduction and Genetics|May 22, 2024
Identification of a novel CFAP61 homozygous splicing variant associated with multiple morphological abnormalities of the flagellaAnne-Laure Barbotin, Angèle Boursier, Anne-Sophie Jourdain, et al.
Journal of Medical Genetics|August 24, 2024
Splice site variants in the canonical donor site of <i>MED13L</i> exon 7 lead to intron retention in patients with <i>MED13L</i> syndromeJade Fauqueux, Simon Boussion, Caroline Thuillier, et al.
Human Genomics|April 5, 2026
Compound heterozygous structural variants resulting in CNTNAP2 biallelic loss-of-function: rare mechanisms unveiled by genome sequencingJade Fauqueux, Roseline Caumes, Cindy Colson, et al.
Genes, Chromosomes & Cancer|May 23, 2026
The t(X;5)(q13;q33) Translocation in Myeloid Neoplasms Is Preferentially Associated With Chronic Myelomonocytic Leukemia: A Report From the Groupe Francophone de Cytogénétique HématologiqueFlorence Nguyen-Khac, Marc Muller, Agnes Daudignon, et al.
European Journal of Human Genetics : EJHG|June 8, 2017
Cerebellar hypoplasia with endosteal sclerosis is a POLR3-related disorderJamal Ghoumid, Florence Petit, Odile Boute-Benejean, et al.
Human Genomics|March 14, 2026
Resolving non‑coding splice‑altering variants using an integrative genomic and transcriptomic workflow: application to FOXP1Pauline Planté-Bordeneuve, Anne-Sophie Jourdain, Caroline Thuillier, et al.
American Journal of Medical Genetics. Part A|July 13, 2024
Expanded phenotypic spectrum of UDP-glucose-6-dehydrogenase recessive neurodevelopmental disorder: Two novel descriptions with or without epileptic encephalopathyPauline Plante-Bordeneuve, Simon Boussion, Mélanie Rama, et al.
Neurogenetics|December 12, 2019
Neurodevelopmental phenotype associated with CHD8-SUPT16H duplicationThomas Smol, Caroline Thuillier, Elise Boudry-Labis, et al.
Pageof 10