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Cytogenetic and Genome Research
|
October 18, 2017
Comparison of IGH Profile Signals Using t(4;14) and IGH Break-Apart Probes by FISH in Multiple Myeloma
Thomas Smol, Agnès Daudignon
European Journal of Medical Genetics
|
April 27, 2024
PRKD1-related telangiectasia-ectodermal dysplasia-brachydactyly-cardiac anomaly syndrome: Case report and review of the literature
Fiona Leduc, Thomas Smol, Benoit Catteau, et al.
European Journal of Medical Genetics
|
November 19, 2021
Performance of meta-predictors for the classification of MED13L missense variations, implication of raw parameters
Thomas Smol, Frédéric Frénois, Sylvie Manouvrier-Hanu, et al.
Pediatric Neurology
|
December 12, 2022
Paroxysmal Tonic Upgaze in a Patient With Congenital Ataxia due to a De Novo Missense Variant of CACNA1G
Audrey Riquet, Pierre Cleuziou, Valentine Floret, et al.
Journal of Neurodevelopmental Disorders
|
May 19, 2025
Contribution of families using the GenIDA database to the description of MED13L syndrome and literature review
Roseline Caumes, Pauline Burger, Jean-Louis Mandel, et al.
European Journal of Medical Genetics
|
September 28, 2020
Phenotypic spectrum of SHANK2-related neurodevelopmental disorder
Roseline Caumes, Thomas Smol, Caroline Thuillier, et al.
Clinical Genetics
|
December 27, 2024
Identification of the Third Patient With PAICS Deficiency Harbouring the p.(Lys53Arg) Recurrent Variant, Extending the Phenotype Diversity
Simon Boussion, Madeleine Aumar, Antoine Hutt, et al.
Neuromuscular Disorders : NMD
|
August 15, 2025
McLeod syndrome mimicking mitochondrial myopathy due to a novel in-frame duplication in the XK gene
Maelle Garnier, Juliette Nectoux, Thomas Smol, et al.
European Journal of Medical Genetics
|
November 16, 2019
Mayer-Rokitansky-Künster-Hauser syndrome due to 2q12.1q14.1 deletion: PAX8 the causing gene?
Thomas Smol, Wassila Ribero-Karrouz, Patrick Edery, et al.
European Journal of Haematology
|
September 13, 2019
Cytogenetic landscape in 1012 newly diagnosed chronic lymphocytic leukemia
Amel Senouci, Thomas Smol, Sabine Tricot, et al.
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of 10
Search research articles
Search
Showing results (1-10 of 92) with videos related to
Sort By:
Page
of 10
Cytogenetic and Genome Research
|
October 18, 2017
Comparison of IGH Profile Signals Using t(4;14) and IGH Break-Apart Probes by FISH in Multiple Myeloma
Thomas Smol, Agnès Daudignon
European Journal of Medical Genetics
|
April 27, 2024
PRKD1-related telangiectasia-ectodermal dysplasia-brachydactyly-cardiac anomaly syndrome: Case report and review of the literature
Fiona Leduc, Thomas Smol, Benoit Catteau, et al.
European Journal of Medical Genetics
|
November 19, 2021
Performance of meta-predictors for the classification of MED13L missense variations, implication of raw parameters
Thomas Smol, Frédéric Frénois, Sylvie Manouvrier-Hanu, et al.
Pediatric Neurology
|
December 12, 2022
Paroxysmal Tonic Upgaze in a Patient With Congenital Ataxia due to a De Novo Missense Variant of CACNA1G
Audrey Riquet, Pierre Cleuziou, Valentine Floret, et al.
Journal of Neurodevelopmental Disorders
|
May 19, 2025
Contribution of families using the GenIDA database to the description of MED13L syndrome and literature review
Roseline Caumes, Pauline Burger, Jean-Louis Mandel, et al.
European Journal of Medical Genetics
|
September 28, 2020
Phenotypic spectrum of SHANK2-related neurodevelopmental disorder
Roseline Caumes, Thomas Smol, Caroline Thuillier, et al.
Clinical Genetics
|
December 27, 2024
Identification of the Third Patient With PAICS Deficiency Harbouring the p.(Lys53Arg) Recurrent Variant, Extending the Phenotype Diversity
Simon Boussion, Madeleine Aumar, Antoine Hutt, et al.
Neuromuscular Disorders : NMD
|
August 15, 2025
McLeod syndrome mimicking mitochondrial myopathy due to a novel in-frame duplication in the XK gene
Maelle Garnier, Juliette Nectoux, Thomas Smol, et al.
European Journal of Medical Genetics
|
November 16, 2019
Mayer-Rokitansky-Künster-Hauser syndrome due to 2q12.1q14.1 deletion: PAX8 the causing gene?
Thomas Smol, Wassila Ribero-Karrouz, Patrick Edery, et al.
European Journal of Haematology
|
September 13, 2019
Cytogenetic landscape in 1012 newly diagnosed chronic lymphocytic leukemia
Amel Senouci, Thomas Smol, Sabine Tricot, et al.
Page
of 10