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Thomas Smol

Showing results (21-30 of 92) with videos related to

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HGG Advances|June 12, 2025
MED13L Pathogenic Missense Variants Impair Protein Stability and Interaction, Underlying Diverse Clinical OutcomesThomas Smol, Frédéric Frenois, Morgane Billotte, et al.
European Journal of Medical Genetics|December 21, 2024
NONO-related X-linked intellectual disability syndrome: Further clinical and molecular delineationPauline Planté-Bordeneuve, Simon Boussion, Roseline Caumes, et al.
Leukemia Research|October 16, 2015
Quantification of EVI1 transcript levels in acute myeloid leukemia by RT-qPCR analysis: A study by the ALFA GroupThomas Smol, Olivier Nibourel, Alice Marceau-Renaut, et al.
International Journal of Molecular Sciences|February 17, 2019
A Novel Rare Missense Variation of the <i>NOD2</i> Gene: Evidencesof Implication in Crohn's DiseaseSara Frade-Proud'Hon-Clerc, Thomas Smol, Frédéric Frenois, et al.
European Journal of Human Genetics : EJHG|December 16, 2018
Holt-Oram syndrome: clinical and molecular description of 78 patients with TBX5 variantsClémence Vanlerberghe, Anne-Sophie Jourdain, Jamal Ghoumid, et al.
European Journal of Human Genetics : EJHG|December 12, 2024
Bi-allelic MYMX variants cause a syndromic congenital myopathy with recognizable facial palsy, growth restriction, and dysmorphismFatima Rahman, Luisa Marsili, Domizia Pasquetti, et al.
NPJ Genomic Medicine|April 24, 2026
Genetic variants in Rps4x cause intellectual disability with dysmorphic features, microcephaly, and autismCourtney Matheny-Rabun, Lynda Holloway, Ken Corning, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 13, 2024
Functional characterization vs in silico prediction for TBX5 missense and splice variants in Holt-Oram syndromeClémence Vanlerberghe, Anne Sophie Jourdain, Frédéric Frenois, et al.
Clinical Genetics|July 7, 2020
De novo missense variants in the RAP1B gene identified in two patients with syndromic thrombocytopeniaJan Hendrik Niemann, Chen Du, Susanne Morlot, et al.
Proceedings of the National Academy of Sciences of the United States of America|April 4, 2022
Gain of function due to increased opening probability by two <i>KCNQ5</i> pore variants causing developmental and epileptic encephalopathyMario Nappi, Vincenzo Barrese, Lidia Carotenuto, et al.
Pageof 10

Showing results (21-30 of 92) with videos related to

Sort By:
Pageof 10
HGG Advances|June 12, 2025
MED13L Pathogenic Missense Variants Impair Protein Stability and Interaction, Underlying Diverse Clinical OutcomesThomas Smol, Frédéric Frenois, Morgane Billotte, et al.
European Journal of Medical Genetics|December 21, 2024
NONO-related X-linked intellectual disability syndrome: Further clinical and molecular delineationPauline Planté-Bordeneuve, Simon Boussion, Roseline Caumes, et al.
Leukemia Research|October 16, 2015
Quantification of EVI1 transcript levels in acute myeloid leukemia by RT-qPCR analysis: A study by the ALFA GroupThomas Smol, Olivier Nibourel, Alice Marceau-Renaut, et al.
International Journal of Molecular Sciences|February 17, 2019
A Novel Rare Missense Variation of the <i>NOD2</i> Gene: Evidencesof Implication in Crohn's DiseaseSara Frade-Proud'Hon-Clerc, Thomas Smol, Frédéric Frenois, et al.
European Journal of Human Genetics : EJHG|December 16, 2018
Holt-Oram syndrome: clinical and molecular description of 78 patients with TBX5 variantsClémence Vanlerberghe, Anne-Sophie Jourdain, Jamal Ghoumid, et al.
European Journal of Human Genetics : EJHG|December 12, 2024
Bi-allelic MYMX variants cause a syndromic congenital myopathy with recognizable facial palsy, growth restriction, and dysmorphismFatima Rahman, Luisa Marsili, Domizia Pasquetti, et al.
NPJ Genomic Medicine|April 24, 2026
Genetic variants in Rps4x cause intellectual disability with dysmorphic features, microcephaly, and autismCourtney Matheny-Rabun, Lynda Holloway, Ken Corning, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 13, 2024
Functional characterization vs in silico prediction for TBX5 missense and splice variants in Holt-Oram syndromeClémence Vanlerberghe, Anne Sophie Jourdain, Frédéric Frenois, et al.
Clinical Genetics|July 7, 2020
De novo missense variants in the RAP1B gene identified in two patients with syndromic thrombocytopeniaJan Hendrik Niemann, Chen Du, Susanne Morlot, et al.
Proceedings of the National Academy of Sciences of the United States of America|April 4, 2022
Gain of function due to increased opening probability by two <i>KCNQ5</i> pore variants causing developmental and epileptic encephalopathyMario Nappi, Vincenzo Barrese, Lidia Carotenuto, et al.
Pageof 10