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Andrea Superti-Furga

Showing results (41-50 of 234) with videos related to

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Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|October 25, 2006
Torg syndrome is caused by inactivating mutations in MMP2 and is allelic to NAO and Winchester syndromeAndreas Zankl, Lauren Pachman, Andrew Poznanski, et al.
Human Mutation|May 31, 2021
Biallelic deep intronic variant c.5457+81T>A in TRIP11 causes loss of function and results in achondrogenesis 1APriyanka Upadhyai, Periyasamy Radhakrishnan, Vishal S Guleria, et al.
Molecular Genetics & Genomic Medicine|March 21, 2020
Clinical aspects of Hyaline Fibromatosis Syndrome and identification of a novel mutationBettina Härter, Francesco Benedicenti, Daniela Karall, et al.
Journal of Human Genetics|June 20, 2020
Non-invasive prenatal testing leading to a maternal diagnosis of Charcot-Marie-Tooth neuropathyCamille Kumps, Florence Niel Bütschi, Blandine Rapin, et al.
Ophthalmic Genetics|April 24, 2019
A novel missense variant in IDH3A causes autosomal recessive retinitis pigmentosaVirginie G Peter, Konstantinos Nikopoulos, Mathieu Quinodoz, et al.
American Journal of Respiratory and Critical Care Medicine|September 24, 2005
Polymorphisms and haplotypes of acid mammalian chitinase are associated with bronchial asthmaSibylle Bierbaum, Renate Nickel, Anja Koch, et al.
Genes|December 28, 2019
Exploring the Genetic Landscape of Retinal Diseases in North-Western Pakistan Reveals a High Degree of Autozygosity and a Prevalent Founder Mutation in <i>ABCA4</i>Atta Ur Rehman, Virginie G Peter, Mathieu Quinodoz, et al.
American Journal of Medical Genetics. Part A|July 17, 2007
Filamin A mutation is one cause of FG syndromeSheila Unger, Anita Mainberger, Christian Spitz, et al.
Genes|April 17, 2020
The Connective Tissue Disorder Associated with Recessive Variants in the <i>SLC39A13</i> Zinc Transporter Gene (Spondylo-Dysplastic Ehlers-Danlos Syndrome Type 3): Insights from Four Novel Patients and Follow-Up on Two Original CasesCamille Kumps, Belinda Campos-Xavier, Yvonne Hilhorst-Hofstee, et al.
American Journal of Medical Genetics. Part A|November 4, 2004
Phenotypic and molecular characterization of Bruck syndrome (osteogenesis imperfecta with contractures of the large joints) caused by a recessive mutation in PLOD2Russia Ha-Vinh, Yasemin Alanay, Ruud A Bank, et al.
Pageof 24

Showing results (41-50 of 234) with videos related to

Sort By:
Pageof 24
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|October 25, 2006
Torg syndrome is caused by inactivating mutations in MMP2 and is allelic to NAO and Winchester syndromeAndreas Zankl, Lauren Pachman, Andrew Poznanski, et al.
Human Mutation|May 31, 2021
Biallelic deep intronic variant c.5457+81T>A in TRIP11 causes loss of function and results in achondrogenesis 1APriyanka Upadhyai, Periyasamy Radhakrishnan, Vishal S Guleria, et al.
Molecular Genetics & Genomic Medicine|March 21, 2020
Clinical aspects of Hyaline Fibromatosis Syndrome and identification of a novel mutationBettina Härter, Francesco Benedicenti, Daniela Karall, et al.
Journal of Human Genetics|June 20, 2020
Non-invasive prenatal testing leading to a maternal diagnosis of Charcot-Marie-Tooth neuropathyCamille Kumps, Florence Niel Bütschi, Blandine Rapin, et al.
Ophthalmic Genetics|April 24, 2019
A novel missense variant in IDH3A causes autosomal recessive retinitis pigmentosaVirginie G Peter, Konstantinos Nikopoulos, Mathieu Quinodoz, et al.
American Journal of Respiratory and Critical Care Medicine|September 24, 2005
Polymorphisms and haplotypes of acid mammalian chitinase are associated with bronchial asthmaSibylle Bierbaum, Renate Nickel, Anja Koch, et al.
Genes|December 28, 2019
Exploring the Genetic Landscape of Retinal Diseases in North-Western Pakistan Reveals a High Degree of Autozygosity and a Prevalent Founder Mutation in <i>ABCA4</i>Atta Ur Rehman, Virginie G Peter, Mathieu Quinodoz, et al.
American Journal of Medical Genetics. Part A|July 17, 2007
Filamin A mutation is one cause of FG syndromeSheila Unger, Anita Mainberger, Christian Spitz, et al.
Genes|April 17, 2020
The Connective Tissue Disorder Associated with Recessive Variants in the <i>SLC39A13</i> Zinc Transporter Gene (Spondylo-Dysplastic Ehlers-Danlos Syndrome Type 3): Insights from Four Novel Patients and Follow-Up on Two Original CasesCamille Kumps, Belinda Campos-Xavier, Yvonne Hilhorst-Hofstee, et al.
American Journal of Medical Genetics. Part A|November 4, 2004
Phenotypic and molecular characterization of Bruck syndrome (osteogenesis imperfecta with contractures of the large joints) caused by a recessive mutation in PLOD2Russia Ha-Vinh, Yasemin Alanay, Ruud A Bank, et al.
Pageof 24