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Alban Ziegler

Showing results (41-50 of 83) with videos related to

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Journal of the European Academy of Dermatology and Venereology : JEADV|April 10, 2024
Dermatological manifestations in Costello syndrome: A prospective multicentric study of 31 HRAS-positive variant patientsDidier Bessis, Anne-Claire Bursztejn, Fanny Morice-Picard, et al.
Journal of Medical Genetics|August 22, 2020
De novo missense variants in <i>LMBRD2</i> are associated with developmental and motor delays, brain structure abnormalities and dysmorphic featuresAlka Malhotra, Alban Ziegler, Li Shu, et al.
American Journal of Medical Genetics. Part A|December 18, 2025
Genetic and Phenotypic Features of the Five Known Polyaminopathies: A Critical Narrative ReviewElizabeth A VanSickle, Sara M Sarasua, Tracy Lowe, et al.
American Journal of Human Genetics|May 14, 2024
Missense variants in ANO4 cause sporadic encephalopathic or familial epilepsy with evidence for a dominant-negative effectFang Yang, Anais Begemann, Nadine Reichhart, et al.
American Journal of Human Genetics|August 23, 2016
Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset EncephalopathyEstelle Colin, Jens Daniel, Alban Ziegler, et al.
Journal of Medical Genetics|July 29, 2021
Delineating the genotypic and phenotypic spectrum of <i>HECW2</i>-related neurodevelopmental disordersAnushree Acharya, Haluk Kavus, Patrick Dunn, et al.
Nature Communications|November 11, 2022
Dominant ARF3 variants disrupt Golgi integrity and cause a neurodevelopmental disorder recapitulated in zebrafishGiulia Fasano, Valentina Muto, Francesca Clementina Radio, et al.
HGG Advances|December 30, 2022
Erratum: Variants in <i>PHF8</i> cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphologyAndrew K Sobering, Laura M Bryant, Dong Li, et al.
Nature Communications|February 23, 2023
TEFM variants impair mitochondrial transcription causing childhood-onset neurological diseaseLindsey Van Haute, Emily O'Connor, Héctor Díaz-Maldonado, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 2, 2022
Heterozygous variants in CTR9, which encodes a major component of the PAF1 complex, are associated with a neurodevelopmental disorderMarije Meuwissen, Aline Verstraeten, Emmanuelle Ranza, et al.
Pageof 9

Showing results (41-50 of 83) with videos related to

Sort By:
Pageof 9
Journal of the European Academy of Dermatology and Venereology : JEADV|April 10, 2024
Dermatological manifestations in Costello syndrome: A prospective multicentric study of 31 HRAS-positive variant patientsDidier Bessis, Anne-Claire Bursztejn, Fanny Morice-Picard, et al.
Journal of Medical Genetics|August 22, 2020
De novo missense variants in <i>LMBRD2</i> are associated with developmental and motor delays, brain structure abnormalities and dysmorphic featuresAlka Malhotra, Alban Ziegler, Li Shu, et al.
American Journal of Medical Genetics. Part A|December 18, 2025
Genetic and Phenotypic Features of the Five Known Polyaminopathies: A Critical Narrative ReviewElizabeth A VanSickle, Sara M Sarasua, Tracy Lowe, et al.
American Journal of Human Genetics|May 14, 2024
Missense variants in ANO4 cause sporadic encephalopathic or familial epilepsy with evidence for a dominant-negative effectFang Yang, Anais Begemann, Nadine Reichhart, et al.
American Journal of Human Genetics|August 23, 2016
Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset EncephalopathyEstelle Colin, Jens Daniel, Alban Ziegler, et al.
Journal of Medical Genetics|July 29, 2021
Delineating the genotypic and phenotypic spectrum of <i>HECW2</i>-related neurodevelopmental disordersAnushree Acharya, Haluk Kavus, Patrick Dunn, et al.
Nature Communications|November 11, 2022
Dominant ARF3 variants disrupt Golgi integrity and cause a neurodevelopmental disorder recapitulated in zebrafishGiulia Fasano, Valentina Muto, Francesca Clementina Radio, et al.
HGG Advances|December 30, 2022
Erratum: Variants in <i>PHF8</i> cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphologyAndrew K Sobering, Laura M Bryant, Dong Li, et al.
Nature Communications|February 23, 2023
TEFM variants impair mitochondrial transcription causing childhood-onset neurological diseaseLindsey Van Haute, Emily O'Connor, Héctor Díaz-Maldonado, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 2, 2022
Heterozygous variants in CTR9, which encodes a major component of the PAF1 complex, are associated with a neurodevelopmental disorderMarije Meuwissen, Aline Verstraeten, Emmanuelle Ranza, et al.
Pageof 9