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Andrea Superti-Furga

Showing results (31-40 of 234) with videos related to

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Human Immunology|June 12, 2010
Fatal adult-onset antibody deficiency syndrome in a patient with cartilage hair hypoplasiaJulia Horn, Michael Schlesier, Klaus Warnatz, et al.
BMC Endocrine Disorders|August 22, 2021
Elevated lactate in Mauriac syndrome: still a mysteryBrice Touilloux, Henri Lu, Belinda Campos-Xavier, et al.
Rheumatology International|October 18, 2018
Progressive pseudorheumatoid dysplasia: a rare childhood diseaseSofia Torreggiani, Marta Torcoletti, Belinda Campos-Xavier, et al.
American Journal of Medical Genetics. Part A|September 11, 2003
Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: double-layer patella as a reliable signOuti Mäkitie, Ravi Savarirayan, Luisa Bonafé, et al.
European Journal of Pediatrics|May 13, 2005
Familial X-linked cardiomyopathy (Danon disease): diagnostic confirmation by mutation analysis of the LAMP2geneChristian Balmer, Diana Ballhausen, Nils U Bosshard, et al.
American Journal of Medical Genetics. Part A|October 30, 2024
Recurrent Increased Nuchal Translucency Led to the Identification of Novel NUP107 VariantsIsis Atallah, Katarina Cisarova, Cécile Guenot, et al.
Genes|June 2, 2021
NGS-Based Diagnosis of Treatable Neurogenetic Disorders in Adults: Opportunities and ChallengesJean-Marc Good, Isis Atallah, Mayte Castro Jimenez, et al.
Molecular Genetics and Metabolism|April 7, 2023
Biotinidase deficiency: What have we learned in forty years?Aurel T Tankeu, Geraldine Van Winckel, Jolanda Elmers, et al.
Italian Journal of Pediatrics|March 23, 2013
3-M syndrome associated with growth hormone deficiency: 18 year follow-up of a patientCristina Meazza, Ekkehard Lausch, Sara Pagani, et al.
European Journal of Medical Genetics|June 15, 2010
Phenotypic and molecular characterization of a novel case of dyssegmental dysplasia, Silverman-Handmaker typeClaudine Rieubland, Sebastien Jacquemont, Laureane Mittaz, et al.
Pageof 24

Showing results (31-40 of 234) with videos related to

Sort By:
Pageof 24
Human Immunology|June 12, 2010
Fatal adult-onset antibody deficiency syndrome in a patient with cartilage hair hypoplasiaJulia Horn, Michael Schlesier, Klaus Warnatz, et al.
BMC Endocrine Disorders|August 22, 2021
Elevated lactate in Mauriac syndrome: still a mysteryBrice Touilloux, Henri Lu, Belinda Campos-Xavier, et al.
Rheumatology International|October 18, 2018
Progressive pseudorheumatoid dysplasia: a rare childhood diseaseSofia Torreggiani, Marta Torcoletti, Belinda Campos-Xavier, et al.
American Journal of Medical Genetics. Part A|September 11, 2003
Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: double-layer patella as a reliable signOuti Mäkitie, Ravi Savarirayan, Luisa Bonafé, et al.
European Journal of Pediatrics|May 13, 2005
Familial X-linked cardiomyopathy (Danon disease): diagnostic confirmation by mutation analysis of the LAMP2geneChristian Balmer, Diana Ballhausen, Nils U Bosshard, et al.
American Journal of Medical Genetics. Part A|October 30, 2024
Recurrent Increased Nuchal Translucency Led to the Identification of Novel NUP107 VariantsIsis Atallah, Katarina Cisarova, Cécile Guenot, et al.
Genes|June 2, 2021
NGS-Based Diagnosis of Treatable Neurogenetic Disorders in Adults: Opportunities and ChallengesJean-Marc Good, Isis Atallah, Mayte Castro Jimenez, et al.
Molecular Genetics and Metabolism|April 7, 2023
Biotinidase deficiency: What have we learned in forty years?Aurel T Tankeu, Geraldine Van Winckel, Jolanda Elmers, et al.
Italian Journal of Pediatrics|March 23, 2013
3-M syndrome associated with growth hormone deficiency: 18 year follow-up of a patientCristina Meazza, Ekkehard Lausch, Sara Pagani, et al.
European Journal of Medical Genetics|June 15, 2010
Phenotypic and molecular characterization of a novel case of dyssegmental dysplasia, Silverman-Handmaker typeClaudine Rieubland, Sebastien Jacquemont, Laureane Mittaz, et al.
Pageof 24