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Gabriele Richard

Showing results (71-80 of 83) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 4, 2015
Clinical application of whole-exome sequencing across clinical indicationsKyle Retterer, Jane Juusola, Megan T Cho, et al.
American Journal of Medical Genetics. Part A|August 21, 2025
Case Series of Nizon-Isidor Syndrome by Heterozygous Variants in MED12L With Further Evidence of Mitotic Instability in One Case With Diploid-Triploid MosaicismRussell Stewart, Kimberly M Ezell, Deanna S Bell, et al.
Cold Spring Harbor Molecular Case Studies|May 6, 2016
De novo truncating variants in the AHDC1 gene encoding the AT-hook DNA-binding motif-containing protein 1 are associated with intellectual disability and developmental delayHui Yang, Ganka Douglas, Kristin G Monaghan, et al.
Journal of the American Academy of Dermatology|October 6, 2018
More than keratitis, ichthyosis, and deafness: Multisystem effects of lethal GJB2 mutationsEvelyn Lilly, Christopher G Bunick, Alexander M Maley, et al.
Journal of Neurogenetics|May 3, 2017
Expanding the phenotypic spectrum of GABRG2 variants: a recurrent GABRG2 missense variant associated with a severe phenotypeFanggeng Zou, Kirsty McWalter, Lindsay Schmidt, et al.
Journal of Medical Genetics|July 26, 2022
Axenfeld-Rieger syndrome: more than meets the eyeLinda M Reis, Mohit Maheshwari, Jenina Capasso, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 5, 2018
Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert PanelMelissa A Kelly, Colleen Caleshu, Ana Morales, et al.
The Journal of Molecular Diagnostics : JMD|February 25, 2021
Harmonizing the Collection of Clinical Data on Genetic Testing Requisition Forms to Enhance Variant Interpretation in Hypertrophic Cardiomyopathy (HCM): A Study from the ClinGen Cardiomyopathy Variant Curation Expert PanelAna Morales, Alexander Ing, Christian Antolik, et al.
Plos Genetics|October 18, 2021
Deciphering the genetic architecture and ethnographic distribution of IRD in three ethnic populations by whole genome sequence analysisPooja Biswas, Adda L Villanueva, Angel Soto-Hermida, et al.
Journal of the American Academy of Dermatology|July 21, 2010
Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009Vinzenz Oji, Gianluca Tadini, Masashi Akiyama, et al.
Pageof 9

Showing results (71-80 of 83) with videos related to

Sort By:
Pageof 9
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 4, 2015
Clinical application of whole-exome sequencing across clinical indicationsKyle Retterer, Jane Juusola, Megan T Cho, et al.
American Journal of Medical Genetics. Part A|August 21, 2025
Case Series of Nizon-Isidor Syndrome by Heterozygous Variants in MED12L With Further Evidence of Mitotic Instability in One Case With Diploid-Triploid MosaicismRussell Stewart, Kimberly M Ezell, Deanna S Bell, et al.
Cold Spring Harbor Molecular Case Studies|May 6, 2016
De novo truncating variants in the AHDC1 gene encoding the AT-hook DNA-binding motif-containing protein 1 are associated with intellectual disability and developmental delayHui Yang, Ganka Douglas, Kristin G Monaghan, et al.
Journal of the American Academy of Dermatology|October 6, 2018
More than keratitis, ichthyosis, and deafness: Multisystem effects of lethal GJB2 mutationsEvelyn Lilly, Christopher G Bunick, Alexander M Maley, et al.
Journal of Neurogenetics|May 3, 2017
Expanding the phenotypic spectrum of GABRG2 variants: a recurrent GABRG2 missense variant associated with a severe phenotypeFanggeng Zou, Kirsty McWalter, Lindsay Schmidt, et al.
Journal of Medical Genetics|July 26, 2022
Axenfeld-Rieger syndrome: more than meets the eyeLinda M Reis, Mohit Maheshwari, Jenina Capasso, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 5, 2018
Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert PanelMelissa A Kelly, Colleen Caleshu, Ana Morales, et al.
The Journal of Molecular Diagnostics : JMD|February 25, 2021
Harmonizing the Collection of Clinical Data on Genetic Testing Requisition Forms to Enhance Variant Interpretation in Hypertrophic Cardiomyopathy (HCM): A Study from the ClinGen Cardiomyopathy Variant Curation Expert PanelAna Morales, Alexander Ing, Christian Antolik, et al.
Plos Genetics|October 18, 2021
Deciphering the genetic architecture and ethnographic distribution of IRD in three ethnic populations by whole genome sequence analysisPooja Biswas, Adda L Villanueva, Angel Soto-Hermida, et al.
Journal of the American Academy of Dermatology|July 21, 2010
Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009Vinzenz Oji, Gianluca Tadini, Masashi Akiyama, et al.
Pageof 9