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Clinical genetics

Showing results (121-130 of 9,194) with videos related to

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Clinical Genetics|November 30, 2024
WDFY3 Haploinsufficiency Is Associated With Autosomal Dominant Neurodevelopmental Disorders and MacrocephalyLudovico Graziani, Miriam Lucia Carriero, Valentina Ferradini, et al.
Clinical Genetics|November 27, 2024
Exploring the Cognitive and Behavioral Aspects of Shprintzen-Goldberg Syndrome; a Novel Cohort and Literature ReviewEmilie Sjøstrøm, Ange-Line Bruel, Christophe Philippe, et al.
Clinical Genetics|November 28, 2024
Unique Genetic Profiles in Hypertrophic Cardiomyopathy Patients From São Miguel Island (Azores, Portugal)Fabiana Duarte, Luís Oliveira, Márcia Baixia, et al.
Clinical Genetics|December 21, 2024
Effectiveness and Impact of Transcript Analysis in Clinical Genetics Daily PracticeGiovanni Innella, Emanuele Coccia, Carlotta Pia Cristalli, et al.
Clinical Genetics|December 26, 2024
Next Generation Phenotyping and Synthetic Faces in Coffin Siris SyndromeQuentin Hennocq, Olivier Lienhard, Dipesh Rao, et al.
Clinical Genetics|December 11, 2024
Unveiling New Clinical and Genetic Insights in Ultra-Rare Intellectual Disability Phenotypes: A Study of a Turkish CohortAyberk Turkyilmaz, Safiye Gunes Sager, Kerem Terali, et al.
Clinical Genetics|November 18, 2024
BRCC3 -Associated Syndromic Moyamoya Angiopathy Diagnosed Through Clinical RNA SequencingMyrrhe Venema, Fatimah Albuainain, Rachel Schot, et al.
Clinical Genetics|November 25, 2024
Novel BRAT1 Deep Intronic Variant Affects Splicing Regulatory Elements Causing Cerebellar Hypoplasia Syndrome: Genotypic and Phenotypic ExpansionTomer Poleg, Regina Proskorovski-Ohayon, Vadim Dolgin, et al.
Clinical Genetics|November 8, 2024
Genetic Analysis of Heterotaxy in a Consanguineous CohortMaarab Al-Korashy, Hadeel Binomar, Abeer Al-Mostafa, et al.
Clinical Genetics|November 10, 2024
Identification of a Rare Branch Point Variant in the SMS Gene in a Large Family With a Severe Form of Snyder-Robinson SyndromeAntoine Civit, Nathalie Ronce, Benjamin Cogné, et al.
Pageof 920

Showing results (121-130 of 9,194) with videos related to

Sort By:
Pageof 920
Clinical Genetics|November 30, 2024
WDFY3 Haploinsufficiency Is Associated With Autosomal Dominant Neurodevelopmental Disorders and MacrocephalyLudovico Graziani, Miriam Lucia Carriero, Valentina Ferradini, et al.
Clinical Genetics|November 27, 2024
Exploring the Cognitive and Behavioral Aspects of Shprintzen-Goldberg Syndrome; a Novel Cohort and Literature ReviewEmilie Sjøstrøm, Ange-Line Bruel, Christophe Philippe, et al.
Clinical Genetics|November 28, 2024
Unique Genetic Profiles in Hypertrophic Cardiomyopathy Patients From São Miguel Island (Azores, Portugal)Fabiana Duarte, Luís Oliveira, Márcia Baixia, et al.
Clinical Genetics|December 21, 2024
Effectiveness and Impact of Transcript Analysis in Clinical Genetics Daily PracticeGiovanni Innella, Emanuele Coccia, Carlotta Pia Cristalli, et al.
Clinical Genetics|December 26, 2024
Next Generation Phenotyping and Synthetic Faces in Coffin Siris SyndromeQuentin Hennocq, Olivier Lienhard, Dipesh Rao, et al.
Clinical Genetics|December 11, 2024
Unveiling New Clinical and Genetic Insights in Ultra-Rare Intellectual Disability Phenotypes: A Study of a Turkish CohortAyberk Turkyilmaz, Safiye Gunes Sager, Kerem Terali, et al.
Clinical Genetics|November 18, 2024
BRCC3 -Associated Syndromic Moyamoya Angiopathy Diagnosed Through Clinical RNA SequencingMyrrhe Venema, Fatimah Albuainain, Rachel Schot, et al.
Clinical Genetics|November 25, 2024
Novel BRAT1 Deep Intronic Variant Affects Splicing Regulatory Elements Causing Cerebellar Hypoplasia Syndrome: Genotypic and Phenotypic ExpansionTomer Poleg, Regina Proskorovski-Ohayon, Vadim Dolgin, et al.
Clinical Genetics|November 8, 2024
Genetic Analysis of Heterotaxy in a Consanguineous CohortMaarab Al-Korashy, Hadeel Binomar, Abeer Al-Mostafa, et al.
Clinical Genetics|November 10, 2024
Identification of a Rare Branch Point Variant in the SMS Gene in a Large Family With a Severe Form of Snyder-Robinson SyndromeAntoine Civit, Nathalie Ronce, Benjamin Cogné, et al.
Pageof 920