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Alban Ziegler

Showing results (61-70 of 83) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 8, 2019
The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basisKarin Weiss, Hayley P Lazar, Alina Kurolap, et al.
Annals of Neurology|June 5, 2025
HCN2-Associated Neurodevelopmental Disorders: Data from Patients and Xenopus Cell ModelsClara Houdayer, A Marie Phillips, Marie Chabbert, et al.
JAMA|October 24, 2024
Expanded Newborn Screening Using Genome Sequencing for Early Actionable ConditionsAlban Ziegler, Carrie Koval-Burt, Denise M Kay, et al.
Medrxiv : the Preprint Server for Health Sciences|April 2, 2024
Mono and biallelic variants in <i>HCN2</i> cause severe neurodevelopmental disordersClara Houdayer, A Marie Phillips, Marie Chabbert, et al.
Journal of Medical Genetics|August 4, 2025
Refined genotype-phenotype correlations in neurofibromatosis type 1 patients with <i>NF1</i> point variantsLaurence Pacot, Marinus Blok, Dominique Vidaud, et al.
The Journal of Clinical Endocrinology and Metabolism|March 8, 2023
The Severity of Congenital Hypothyroidism With Gland-In-Situ Predicts Molecular Yield by Targeted Next-Generation SequencingLucie Levaillant, Natacha Bouhours-Nouet, Frédéric Illouz, et al.
Neuron|March 6, 2020
Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical DevelopmentAshley L Lennox, Mariah L Hoye, Ruiji Jiang, et al.
European Journal of Human Genetics : EJHG|February 6, 2023
The neurodevelopmental and facial phenotype in individuals with a TRIP12 variantMio Aerden, Anne-Sophie Denommé-Pichon, Dominique Bonneau, et al.
Research Square|October 16, 2023
Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex compositionDavid Picketts, Ghayda Mirzaa, Keqin Yan, et al.
Frontiers in Genetics|April 10, 2023
Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic toolFrédéric Tran Mau-Them, Julian Delanne, Anne-Sophie Denommé-Pichon, et al.
Pageof 9

Showing results (61-70 of 83) with videos related to

Sort By:
Pageof 9
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 8, 2019
The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basisKarin Weiss, Hayley P Lazar, Alina Kurolap, et al.
Annals of Neurology|June 5, 2025
HCN2-Associated Neurodevelopmental Disorders: Data from Patients and Xenopus Cell ModelsClara Houdayer, A Marie Phillips, Marie Chabbert, et al.
JAMA|October 24, 2024
Expanded Newborn Screening Using Genome Sequencing for Early Actionable ConditionsAlban Ziegler, Carrie Koval-Burt, Denise M Kay, et al.
Medrxiv : the Preprint Server for Health Sciences|April 2, 2024
Mono and biallelic variants in <i>HCN2</i> cause severe neurodevelopmental disordersClara Houdayer, A Marie Phillips, Marie Chabbert, et al.
Journal of Medical Genetics|August 4, 2025
Refined genotype-phenotype correlations in neurofibromatosis type 1 patients with <i>NF1</i> point variantsLaurence Pacot, Marinus Blok, Dominique Vidaud, et al.
The Journal of Clinical Endocrinology and Metabolism|March 8, 2023
The Severity of Congenital Hypothyroidism With Gland-In-Situ Predicts Molecular Yield by Targeted Next-Generation SequencingLucie Levaillant, Natacha Bouhours-Nouet, Frédéric Illouz, et al.
Neuron|March 6, 2020
Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical DevelopmentAshley L Lennox, Mariah L Hoye, Ruiji Jiang, et al.
European Journal of Human Genetics : EJHG|February 6, 2023
The neurodevelopmental and facial phenotype in individuals with a TRIP12 variantMio Aerden, Anne-Sophie Denommé-Pichon, Dominique Bonneau, et al.
Research Square|October 16, 2023
Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex compositionDavid Picketts, Ghayda Mirzaa, Keqin Yan, et al.
Frontiers in Genetics|April 10, 2023
Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic toolFrédéric Tran Mau-Them, Julian Delanne, Anne-Sophie Denommé-Pichon, et al.
Pageof 9