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Thibault Coste

Showing results (11-20 of 21) with videos related to

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Prenatal Diagnosis|February 12, 2022
COL4A1/COL4A2 and inherited platelet disorder gene variants in fetuses showing intracranial hemorrhageThibault Coste, Catherine Vincent-Delorme, Morgane Stichelbout, et al.
Prenatal Diagnosis|January 7, 2025
Exome Sequencing of Fetuses With Intracranial Hemorrhage Unravels Novel Causative Genes and an Extreme Genetic HeterogeneityThibault Coste, Chaker Aloui, Justine Chanclud, et al.
Neurology. Genetics|September 17, 2021
Early-Onset Cerebral Amyloid Angiopathy and Alzheimer Disease Related to an APP Locus TriplicationLou Grangeon, Kévin Cassinari, Stéphane Rousseau, et al.
Stroke|January 2, 2026
<i>COL4A1</i> and <i>COL4A2</i> Gene Duplication or Triplication as a Genetic Cause of Cerebral Small Vessel Disease in AdultsDominique Hervé, Saskia A J Lesnik Oberstein, Eva Pipiras, et al.
Annals of Neurology|October 4, 2021
End-Truncated LAMB1 Causes a Hippocampal Memory Defect and a LeukoencephalopathyChaker Aloui, Dominique Hervé, Gaelle Marenne, et al.
European Journal of Medical Genetics|October 14, 2018
Further refinement of COL4A1 and COL4A2 related cortical malformationsMara Cavallin, Manuele Mine, Marion Philbert, et al.
Brain : a Journal of Neurology|July 16, 2021
Heterozygous HTRA1 nonsense or frameshift mutations are pathogenicThibault Coste, Dominique Hervé, Jean Philippe Neau, et al.
JAMA Network Open|April 17, 2024
An AluYa5 Insertion in the 3'UTR of COL4A1 and Cerebral Small Vessel DiseaseChaker Aloui, Lisa Neumann, Françoise Bergametti, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 5, 2025
COL4A1 and COL4A2-related disorders: Clinical features, diagnostic guidelines, and managementDiana Tambala, Rachel Vassar, John Snow, et al.
American Journal of Human Genetics|March 30, 2023
Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhageMauro Lecca, Davut Pehlivan, Damià Heine Suñer, et al.
Pageof 3

Showing results (11-20 of 21) with videos related to

Sort By:
Pageof 3
Prenatal Diagnosis|February 12, 2022
COL4A1/COL4A2 and inherited platelet disorder gene variants in fetuses showing intracranial hemorrhageThibault Coste, Catherine Vincent-Delorme, Morgane Stichelbout, et al.
Prenatal Diagnosis|January 7, 2025
Exome Sequencing of Fetuses With Intracranial Hemorrhage Unravels Novel Causative Genes and an Extreme Genetic HeterogeneityThibault Coste, Chaker Aloui, Justine Chanclud, et al.
Neurology. Genetics|September 17, 2021
Early-Onset Cerebral Amyloid Angiopathy and Alzheimer Disease Related to an APP Locus TriplicationLou Grangeon, Kévin Cassinari, Stéphane Rousseau, et al.
Stroke|January 2, 2026
<i>COL4A1</i> and <i>COL4A2</i> Gene Duplication or Triplication as a Genetic Cause of Cerebral Small Vessel Disease in AdultsDominique Hervé, Saskia A J Lesnik Oberstein, Eva Pipiras, et al.
Annals of Neurology|October 4, 2021
End-Truncated LAMB1 Causes a Hippocampal Memory Defect and a LeukoencephalopathyChaker Aloui, Dominique Hervé, Gaelle Marenne, et al.
European Journal of Medical Genetics|October 14, 2018
Further refinement of COL4A1 and COL4A2 related cortical malformationsMara Cavallin, Manuele Mine, Marion Philbert, et al.
Brain : a Journal of Neurology|July 16, 2021
Heterozygous HTRA1 nonsense or frameshift mutations are pathogenicThibault Coste, Dominique Hervé, Jean Philippe Neau, et al.
JAMA Network Open|April 17, 2024
An AluYa5 Insertion in the 3'UTR of COL4A1 and Cerebral Small Vessel DiseaseChaker Aloui, Lisa Neumann, Françoise Bergametti, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 5, 2025
COL4A1 and COL4A2-related disorders: Clinical features, diagnostic guidelines, and managementDiana Tambala, Rachel Vassar, John Snow, et al.
American Journal of Human Genetics|March 30, 2023
Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhageMauro Lecca, Davut Pehlivan, Damià Heine Suñer, et al.
Pageof 3