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Showing results (51-60 of 57) with videos related to

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HGG Advances|April 17, 2025
Coupling deep phenotypic quantification with next-generation phenotyping for 192 individuals with germline histonopathiesEmily E Lubin, Elizabeth M Gonzalez, Annabel K Sangree, et al.
International Journal of Molecular Sciences|November 26, 2022
Episignature Mapping of <i>TRIP12</i> Provides Functional Insight into Clark-Baraitser SyndromeLiselot van der Laan, Kathleen Rooney, Mariëlle Alders, et al.
American Journal of Medical Genetics. Part A|February 1, 2021
Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomaliesKevin E Glinton, Anna C E Hurst, Kevin M Bowling, 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.
American Journal of Human Genetics|February 24, 2022
Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndromeFederico Tessadori, Karen Duran, Karen Knapp, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 8, 2026
Characterization of the genotypic and phenotypic spectrum of TCF7L2-related neurodevelopmental disorder (TRND)Sally Nijim, Mimi Kim, Melissa Denish, et al.
Annals of Neurology|October 7, 2025
Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early-Onset ParkinsonismHormos Salimi Dafsari, Celine Deneubourg, Kritarth Singh, et al.
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Showing results (51-60 of 57) with videos related to

Sort By:
Pageof 6
You have reached the last page of results.This site can display upto 57 results.
HGG Advances|April 17, 2025
Coupling deep phenotypic quantification with next-generation phenotyping for 192 individuals with germline histonopathiesEmily E Lubin, Elizabeth M Gonzalez, Annabel K Sangree, et al.
International Journal of Molecular Sciences|November 26, 2022
Episignature Mapping of <i>TRIP12</i> Provides Functional Insight into Clark-Baraitser SyndromeLiselot van der Laan, Kathleen Rooney, Mariëlle Alders, et al.
American Journal of Medical Genetics. Part A|February 1, 2021
Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomaliesKevin E Glinton, Anna C E Hurst, Kevin M Bowling, 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.
American Journal of Human Genetics|February 24, 2022
Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndromeFederico Tessadori, Karen Duran, Karen Knapp, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 8, 2026
Characterization of the genotypic and phenotypic spectrum of TCF7L2-related neurodevelopmental disorder (TRND)Sally Nijim, Mimi Kim, Melissa Denish, et al.
Annals of Neurology|October 7, 2025
Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early-Onset ParkinsonismHormos Salimi Dafsari, Celine Deneubourg, Kritarth Singh, et al.
Pageof 6