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Christophe Philippe

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Prenatal Diagnosis|February 11, 2024
Early prenatal diagnosis of causative homozygous variants in ASCC1 in a fetus with cystic hygroma and additional homozygous variants of unknown significance associated with a neurological phenotype not visible in early gestation: Dual diagnosis or not?Maud Favier, Julian Delanne, Guillaume Gorincour, et al.
American Journal of Medical Genetics. Part A|January 21, 2022
Refining the clinical phenotype associated with missense variants in exons 38 and 39 of KMT2DMylène Tharreau, Aurore Garde, Sandrine Marlin, et al.
Clinical Genetics|April 27, 2020
Next-generation sequencing approaches and challenges in the diagnosis of developmental anomalies and intellectual disabilityAnge-Line Bruel, Antonio Vitobello, Frédéric Tran Mau-Them, et al.
Journal of Neurology|July 13, 2024
Patients with complex and very-early-onset ATL1-related spastic paraplegia offer insights on genotype/phenotype correlations and support for autosomal recessive forms of SPG3AAngélique Hamamie-Chaar, Mathilde Renaud, Pinar Gençpinar, et al.
American Journal of Medical Genetics. Part A|September 9, 2022
Epileptic encephalopathy as a new feature of the sudden infant death with dysgenesis of the testes syndrome caused by TSPYL1 variantsBenoit Mazel, Delphine Mallet, Florence Roucher-Boulez, et al.
European Journal of Human Genetics : EJHG|June 29, 2012
14q12 and severe Rett-like phenotypes: new clinical insights and physical mapping of FOXG1-regulatory elementsLila Allou, Laetitia Lambert, Daniel Amsallem, et al.
The Pharmacogenomics Journal|May 19, 2022
Exome sequencing allows detection of relevant pharmacogenetic variants in epileptic patientsSimon Verdez, Quentin Thomas, Philippine Garret, et al.
American Journal of Medical Genetics. Part A|May 7, 2024
Patient with a heterozygous pathogenic variant in CSNK2A1 gene: A new case to update the Okur-Chung neurodevelopmental syndromeAlbin Blanc, Céline Bonnet, Marion Wandzel, et al.
Epilepsia Open|August 24, 2019
A novel homozygous KCNQ3 loss-of-function variant causes non-syndromic intellectual disability and neonatal-onset pharmacodependent epilepsyAnna Lauritano, Sebastien Moutton, Elena Longobardi, et al.
Acta Psychiatrica Scandinavica|March 25, 2024
A comprehensive analysis of age of onset and cumulative incidence of mental disorders: A Danish register studyChristoffer Beck, Carsten Bøcker Pedersen, Oleguer Plana-Ripoll, et al.
Pageof 15

Showing results (31-40 of 150) with videos related to

Sort By:
Pageof 15
Prenatal Diagnosis|February 11, 2024
Early prenatal diagnosis of causative homozygous variants in ASCC1 in a fetus with cystic hygroma and additional homozygous variants of unknown significance associated with a neurological phenotype not visible in early gestation: Dual diagnosis or not?Maud Favier, Julian Delanne, Guillaume Gorincour, et al.
American Journal of Medical Genetics. Part A|January 21, 2022
Refining the clinical phenotype associated with missense variants in exons 38 and 39 of KMT2DMylène Tharreau, Aurore Garde, Sandrine Marlin, et al.
Clinical Genetics|April 27, 2020
Next-generation sequencing approaches and challenges in the diagnosis of developmental anomalies and intellectual disabilityAnge-Line Bruel, Antonio Vitobello, Frédéric Tran Mau-Them, et al.
Journal of Neurology|July 13, 2024
Patients with complex and very-early-onset ATL1-related spastic paraplegia offer insights on genotype/phenotype correlations and support for autosomal recessive forms of SPG3AAngélique Hamamie-Chaar, Mathilde Renaud, Pinar Gençpinar, et al.
American Journal of Medical Genetics. Part A|September 9, 2022
Epileptic encephalopathy as a new feature of the sudden infant death with dysgenesis of the testes syndrome caused by TSPYL1 variantsBenoit Mazel, Delphine Mallet, Florence Roucher-Boulez, et al.
European Journal of Human Genetics : EJHG|June 29, 2012
14q12 and severe Rett-like phenotypes: new clinical insights and physical mapping of FOXG1-regulatory elementsLila Allou, Laetitia Lambert, Daniel Amsallem, et al.
The Pharmacogenomics Journal|May 19, 2022
Exome sequencing allows detection of relevant pharmacogenetic variants in epileptic patientsSimon Verdez, Quentin Thomas, Philippine Garret, et al.
American Journal of Medical Genetics. Part A|May 7, 2024
Patient with a heterozygous pathogenic variant in CSNK2A1 gene: A new case to update the Okur-Chung neurodevelopmental syndromeAlbin Blanc, Céline Bonnet, Marion Wandzel, et al.
Epilepsia Open|August 24, 2019
A novel homozygous KCNQ3 loss-of-function variant causes non-syndromic intellectual disability and neonatal-onset pharmacodependent epilepsyAnna Lauritano, Sebastien Moutton, Elena Longobardi, et al.
Acta Psychiatrica Scandinavica|March 25, 2024
A comprehensive analysis of age of onset and cumulative incidence of mental disorders: A Danish register studyChristoffer Beck, Carsten Bøcker Pedersen, Oleguer Plana-Ripoll, et al.
Pageof 15