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Livia Garavelli

Showing results (131-140 of 156) with videos related to

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Plos Genetics|December 27, 2018
Correction: Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and MiceJoe Rainger, Ellen van Beusekom, Jacqueline K Ramsay, et al.
Human Mutation|March 18, 2014
Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patientsLucia Micale, Bartolomeo Augello, Claudia Maffeo, et al.
American Journal of Medical Genetics. Part A|May 3, 2025
Further Delineation of the AUTS2 HX Repeat Domain-Related PhenotypeEsin Nur Erdogan, Chi Vicky Cheng, Stefano G Caraffi, et al.
American Journal of Medical Genetics. Part A|January 17, 2013
Epilepsy in Mowat-Wilson syndrome: delineation of the electroclinical phenotypeDuccio Maria Cordelli, Livia Garavelli, Salvatore Savasta, et al.
Orphanet Journal of Rare Diseases|June 11, 2011
Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patientsLucia Micale, Bartolomeo Augello, Carmela Fusco, et al.
Journal of Medical Genetics|March 8, 2022
Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variantsAlessandro Mussa, Chiara Leoni, Matteo Iacoviello, et al.
European Journal of Medical Genetics|August 2, 2005
Clinical and mutational spectrum of Mowat-Wilson syndromeChristiane Zweier, Christian T Thiel, Andreas Dufke, et al.
American Journal of Human Genetics|January 13, 2026
Molecular genotype-phenotype correlation in ACTB- and ACTG1-related non-muscle actinopathiesNataliya Di Donato, , Andrew Thom, 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.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 24, 2026
International Clinical Evidence-based Guideline for Kleefstra SyndromeArianne Bouman, Charlotte M W Gaasterland, Carla Sloof-Enthoven, et al.
Pageof 16

Showing results (131-140 of 156) with videos related to

Sort By:
Pageof 16
Plos Genetics|December 27, 2018
Correction: Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and MiceJoe Rainger, Ellen van Beusekom, Jacqueline K Ramsay, et al.
Human Mutation|March 18, 2014
Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patientsLucia Micale, Bartolomeo Augello, Claudia Maffeo, et al.
American Journal of Medical Genetics. Part A|May 3, 2025
Further Delineation of the AUTS2 HX Repeat Domain-Related PhenotypeEsin Nur Erdogan, Chi Vicky Cheng, Stefano G Caraffi, et al.
American Journal of Medical Genetics. Part A|January 17, 2013
Epilepsy in Mowat-Wilson syndrome: delineation of the electroclinical phenotypeDuccio Maria Cordelli, Livia Garavelli, Salvatore Savasta, et al.
Orphanet Journal of Rare Diseases|June 11, 2011
Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patientsLucia Micale, Bartolomeo Augello, Carmela Fusco, et al.
Journal of Medical Genetics|March 8, 2022
Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variantsAlessandro Mussa, Chiara Leoni, Matteo Iacoviello, et al.
European Journal of Medical Genetics|August 2, 2005
Clinical and mutational spectrum of Mowat-Wilson syndromeChristiane Zweier, Christian T Thiel, Andreas Dufke, et al.
American Journal of Human Genetics|January 13, 2026
Molecular genotype-phenotype correlation in ACTB- and ACTG1-related non-muscle actinopathiesNataliya Di Donato, , Andrew Thom, 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.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 24, 2026
International Clinical Evidence-based Guideline for Kleefstra SyndromeArianne Bouman, Charlotte M W Gaasterland, Carla Sloof-Enthoven, et al.
Pageof 16