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Thomas Smol

Showing results (81-90 of 92) with videos related to

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Annals of Neurology|September 20, 2024
Loss-of-Function Variants in CUL3 Cause a Syndromic Neurodevelopmental DisorderPatrick R Blackburn, Frédéric Ebstein, Tzung-Chien Hsieh, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 4, 2018
Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patientsCyril Mignot, Aoife C McMahon, Claire Bar, et al.
Brain : a Journal of Neurology|September 26, 2020
Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegiaDarius Ebrahimi-Fakhari, Julian Teinert, Robert Behne, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 4, 2020
NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patternsHannah Stamberger, Trine B Hammer, Elena Gardella, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 13, 2018
IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patientsCyril Mignot, Aoife C McMahon, Claire Bar, et al.
American Journal of Human Genetics|May 14, 2019
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and EpilepsyAnne H O'Donnell-Luria, Lynn S Pais, Víctor Faundes, et al.
European Journal of Human Genetics : EJHG|October 23, 2023
Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disordersThomas Husson, François Lecoquierre, Gaël Nicolas, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 8, 2020
Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7Laura Castilla-Vallmanya, Kaja K Selmer, Clémantine Dimartino, et al.
Nature Genetics|April 8, 2026
Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changesRocio Rius, Alexander J M Blakes, Yuyang Chen, et al.
Medrxiv : the Preprint Server for Health Sciences|September 15, 2025
Systematic analysis of snRNA genes reveals frequent <i>RNU2-2</i> variants in dominant and recessive developmental and epileptic encephalopathiesElsa Leitão, Amandine Santini, Benjamin Cogne, et al.
Pageof 10

Showing results (81-90 of 92) with videos related to

Sort By:
Pageof 10
Annals of Neurology|September 20, 2024
Loss-of-Function Variants in CUL3 Cause a Syndromic Neurodevelopmental DisorderPatrick R Blackburn, Frédéric Ebstein, Tzung-Chien Hsieh, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 4, 2018
Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patientsCyril Mignot, Aoife C McMahon, Claire Bar, et al.
Brain : a Journal of Neurology|September 26, 2020
Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegiaDarius Ebrahimi-Fakhari, Julian Teinert, Robert Behne, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 4, 2020
NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patternsHannah Stamberger, Trine B Hammer, Elena Gardella, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 13, 2018
IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patientsCyril Mignot, Aoife C McMahon, Claire Bar, et al.
American Journal of Human Genetics|May 14, 2019
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and EpilepsyAnne H O'Donnell-Luria, Lynn S Pais, Víctor Faundes, et al.
European Journal of Human Genetics : EJHG|October 23, 2023
Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disordersThomas Husson, François Lecoquierre, Gaël Nicolas, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 8, 2020
Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7Laura Castilla-Vallmanya, Kaja K Selmer, Clémantine Dimartino, et al.
Nature Genetics|April 8, 2026
Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changesRocio Rius, Alexander J M Blakes, Yuyang Chen, et al.
Medrxiv : the Preprint Server for Health Sciences|September 15, 2025
Systematic analysis of snRNA genes reveals frequent <i>RNU2-2</i> variants in dominant and recessive developmental and epileptic encephalopathiesElsa Leitão, Amandine Santini, Benjamin Cogne, et al.
Pageof 10