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Anne de Saint-Martin

Showing results (71-80 of 80) with videos related to

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Journal of Medical Genetics|June 27, 2024
Expanding the genetic and clinical spectrum of Tatton-Brown-Rahman syndrome in a series of 24 French patientsHortense Thomas, Tom Alix, Émeline Renard, et al.
Human Genetics|March 12, 2017
Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPUChristel Depienne, Caroline Nava, Boris Keren, et al.
Epilepsia|September 21, 2020
Developmental and epilepsy spectrum of KCNB1 encephalopathy with long-term outcomeClaire Bar, Mathieu Kuchenbuch, Giulia Barcia, et al.
Epilepsia|January 28, 2026
Predictive value of seizure onset for gross motor dysfunction in individuals with pathogenic GABRB2 and GABRB3 variantsSebastian Ortiz, Leonardo Affronte, Chiara Bagliani, et al.
Neurology|May 26, 2026
Burst-Suppression EEG in Early Infantile Developmental and Epileptic Encephalopathies: Phenotype, Genotype, and OutcomeFlorence Riccardi, Béatrice Desnous, Emilie Borloz, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 29, 2018
Correction: The landscape of epilepsy-related GATOR1 variantsSara Baldassari, Fabienne Picard, Nienke E Verbeek, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 11, 2018
The landscape of epilepsy-related GATOR1 variantsSara Baldassari, Fabienne Picard, Nienke E Verbeek, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 31, 2018
Correction to: The landscape of epilepsy-related GATOR1 variantsSara Baldassari, Fabienne Picard, Nienke E Verbeek, 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.
Nature Genetics|March 30, 2026
Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathiesElsa Leitão, Amandine Santini, Benjamin Cogne, et al.
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Showing results (71-80 of 80) with videos related to

Sort By:
Pageof 8
You have reached the last page of results.This site can display upto 80 results.
Journal of Medical Genetics|June 27, 2024
Expanding the genetic and clinical spectrum of Tatton-Brown-Rahman syndrome in a series of 24 French patientsHortense Thomas, Tom Alix, Émeline Renard, et al.
Human Genetics|March 12, 2017
Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPUChristel Depienne, Caroline Nava, Boris Keren, et al.
Epilepsia|September 21, 2020
Developmental and epilepsy spectrum of KCNB1 encephalopathy with long-term outcomeClaire Bar, Mathieu Kuchenbuch, Giulia Barcia, et al.
Epilepsia|January 28, 2026
Predictive value of seizure onset for gross motor dysfunction in individuals with pathogenic GABRB2 and GABRB3 variantsSebastian Ortiz, Leonardo Affronte, Chiara Bagliani, et al.
Neurology|May 26, 2026
Burst-Suppression EEG in Early Infantile Developmental and Epileptic Encephalopathies: Phenotype, Genotype, and OutcomeFlorence Riccardi, Béatrice Desnous, Emilie Borloz, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 29, 2018
Correction: The landscape of epilepsy-related GATOR1 variantsSara Baldassari, Fabienne Picard, Nienke E Verbeek, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 11, 2018
The landscape of epilepsy-related GATOR1 variantsSara Baldassari, Fabienne Picard, Nienke E Verbeek, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 31, 2018
Correction to: The landscape of epilepsy-related GATOR1 variantsSara Baldassari, Fabienne Picard, Nienke E Verbeek, 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.
Nature Genetics|March 30, 2026
Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathiesElsa Leitão, Amandine Santini, Benjamin Cogne, et al.
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