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Andrea Superti-Furga

Showing results (81-90 of 234) with videos related to

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Proceedings of the National Academy of Sciences of the United States of America|November 13, 2013
CDK10/cyclin M is a protein kinase that controls ETS2 degradation and is deficient in STAR syndromeVincent J Guen, Carly Gamble, Marc Flajolet, et al.
European Journal of Pediatrics|November 14, 2008
Sudden unexpected death in an infant with L-2-hydroxyglutaric aciduriaMarine Jequier Gygax, Eliane Roulet-Perez, Kathleen Meagher-Villemure, et al.
American Journal of Human Genetics|February 5, 2022
Analysis of missense variants in the human genome reveals widespread gene-specific clustering and improves prediction of pathogenicityMathieu Quinodoz, Virginie G Peter, Katarina Cisarova, et al.
Journal of Medical Genetics|June 26, 2010
A dominant mesomelic dysplasia associated with a 1.0-Mb microduplication of HOXD gene cluster at 2q31.1Tae-Joon Cho, Ok-Hwa Kim, In Ho Choi, et al.
BMC Neurology|January 15, 2020
Childhood neurodegeneration associated with a specific UBTF variant: a new case report and review of the literatureFilipa Bastos, Mathieu Quinodoz, Marie-Claude Addor, et al.
American Journal of Human Genetics|December 17, 2009
Homozygous inactivating mutations in the NKX3-2 gene result in spondylo-megaepiphyseal-metaphyseal dysplasiaJan Hellemans, Marleen Simon, Annelies Dheedene, et al.
Hormone Research in Paediatrics|April 17, 2010
Difficulties in diagnosis and treatment of 5alpha-reductase type 2 deficiency in a newborn with 46,XY DSDKerstin N Walter, Frederike B Kienzle, Alexander Frankenschmidt, et al.
Orphanet Journal of Rare Diseases|March 2, 2011
Prenatal manifestation and management of a mother and child affected by spondyloperipheral dysplasia with a C-propeptide mutation in COL2A1: case reportMaria Francesca Bedeschi, Vera Bianchi, Barbara Gentilin, et al.
European Journal of Pediatrics|August 20, 2003
Leigh syndrome due to compound heterozygosity of dihydrolipoamide dehydrogenase gene mutations. Description of the first E3 splice site mutationOlga Grafakou, Konrad Oexle, Lambert van den Heuvel, et al.
Molecular Syndromology|August 7, 2025
Co-Occurrence of Variants in 3 Genes in a Patient with Congenital Skeletal Dysplasia and Cardiac Anomalies: Diagnostic Challenge Posed by a Blended PhenotypePratibha Nair, Sami Bizzari, Cybel Mehawej, et al.
Pageof 24

Showing results (81-90 of 234) with videos related to

Sort By:
Pageof 24
Proceedings of the National Academy of Sciences of the United States of America|November 13, 2013
CDK10/cyclin M is a protein kinase that controls ETS2 degradation and is deficient in STAR syndromeVincent J Guen, Carly Gamble, Marc Flajolet, et al.
European Journal of Pediatrics|November 14, 2008
Sudden unexpected death in an infant with L-2-hydroxyglutaric aciduriaMarine Jequier Gygax, Eliane Roulet-Perez, Kathleen Meagher-Villemure, et al.
American Journal of Human Genetics|February 5, 2022
Analysis of missense variants in the human genome reveals widespread gene-specific clustering and improves prediction of pathogenicityMathieu Quinodoz, Virginie G Peter, Katarina Cisarova, et al.
Journal of Medical Genetics|June 26, 2010
A dominant mesomelic dysplasia associated with a 1.0-Mb microduplication of HOXD gene cluster at 2q31.1Tae-Joon Cho, Ok-Hwa Kim, In Ho Choi, et al.
BMC Neurology|January 15, 2020
Childhood neurodegeneration associated with a specific UBTF variant: a new case report and review of the literatureFilipa Bastos, Mathieu Quinodoz, Marie-Claude Addor, et al.
American Journal of Human Genetics|December 17, 2009
Homozygous inactivating mutations in the NKX3-2 gene result in spondylo-megaepiphyseal-metaphyseal dysplasiaJan Hellemans, Marleen Simon, Annelies Dheedene, et al.
Hormone Research in Paediatrics|April 17, 2010
Difficulties in diagnosis and treatment of 5alpha-reductase type 2 deficiency in a newborn with 46,XY DSDKerstin N Walter, Frederike B Kienzle, Alexander Frankenschmidt, et al.
Orphanet Journal of Rare Diseases|March 2, 2011
Prenatal manifestation and management of a mother and child affected by spondyloperipheral dysplasia with a C-propeptide mutation in COL2A1: case reportMaria Francesca Bedeschi, Vera Bianchi, Barbara Gentilin, et al.
European Journal of Pediatrics|August 20, 2003
Leigh syndrome due to compound heterozygosity of dihydrolipoamide dehydrogenase gene mutations. Description of the first E3 splice site mutationOlga Grafakou, Konrad Oexle, Lambert van den Heuvel, et al.
Molecular Syndromology|August 7, 2025
Co-Occurrence of Variants in 3 Genes in a Patient with Congenital Skeletal Dysplasia and Cardiac Anomalies: Diagnostic Challenge Posed by a Blended PhenotypePratibha Nair, Sami Bizzari, Cybel Mehawej, et al.
Pageof 24