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Andrea Superti-Furga

Showing results (61-70 of 234) with videos related to

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European Journal of Pediatrics|August 27, 2016
Natural history and life-threatening complications in Myhre syndrome and review of the literatureLivia Garavelli, Ilenia Maini, Federica Baccilieri, et al.
American Journal of Medical Genetics. Part A|August 8, 2014
Positive effects of an angiotensin II type 1 receptor antagonist in Camurati-Engelmann disease: a single case observationPelin Ozlem Simsek-Kiper, Esra Dikoglu, Belinda Campos-Xavier, et al.
Molecular Syndromology|May 7, 2026
Genetic Skeletal Disorders with Defects in Glycosaminoglycan BiosynthesisYuko Tsujioka, Pelin Ozlem Simsek Kiper, Sheila Unger, et al.
Revue Medicale Suisse|October 24, 2019
[Preimplantation genetic testing: legal and ethical aspects in clinical practice]Jeanne-Pascale Simon, Pierre-Antoine Pradervand, Viviane Cina, et al.
American Journal of Medical Genetics. Part A|September 17, 2013
Homozygosity for a novel truncating mutation confirms TBX15 deficiency as the cause of Cousin syndromeEsra Dikoglu, Pelin Ozlem Simsek-Kiper, Gulen Eda Utine, et al.
Revue Medicale Suisse|March 8, 2016
[News in paediatrics]Sarah Depallens, Nicolas Lutz, Raffaella Carlomagno, et al.
Genes|September 28, 2021
Agenesis of the Corpus Callosum with Facial Dysmorphism and Intellectual Disability in Sibs Associated with Compound Heterozygous <i>KDM5B</i> VariantsSébastien Lebon, Mathieu Quinodoz, Virginie G Peter, et al.
American Journal of Medical Genetics. Part A|August 19, 2004
Spondyloperipheral dysplasia is caused by truncating mutations in the C-propeptide of COL2A1Andreas Zankl, Bernhard Zabel, Katja Hilbert, et al.
Human Mutation|April 5, 2013
In-depth analysis of hyaline fibromatosis syndrome frameshift mutations at the same site reveal the necessity of personalized therapyShixu E Yan, Thomas Lemmin, Suzanne Salvi, et al.
American Journal of Medical Genetics. Part A|July 1, 2014
Cono-spondylar dysplasia: clinical, radiographic, and molecular findings of a previously unreported disorderTawfeg Ben-Omran, Shenela Lakhani, Mariam Almureikhi, et al.
Pageof 24

Showing results (61-70 of 234) with videos related to

Sort By:
Pageof 24
European Journal of Pediatrics|August 27, 2016
Natural history and life-threatening complications in Myhre syndrome and review of the literatureLivia Garavelli, Ilenia Maini, Federica Baccilieri, et al.
American Journal of Medical Genetics. Part A|August 8, 2014
Positive effects of an angiotensin II type 1 receptor antagonist in Camurati-Engelmann disease: a single case observationPelin Ozlem Simsek-Kiper, Esra Dikoglu, Belinda Campos-Xavier, et al.
Molecular Syndromology|May 7, 2026
Genetic Skeletal Disorders with Defects in Glycosaminoglycan BiosynthesisYuko Tsujioka, Pelin Ozlem Simsek Kiper, Sheila Unger, et al.
Revue Medicale Suisse|October 24, 2019
[Preimplantation genetic testing: legal and ethical aspects in clinical practice]Jeanne-Pascale Simon, Pierre-Antoine Pradervand, Viviane Cina, et al.
American Journal of Medical Genetics. Part A|September 17, 2013
Homozygosity for a novel truncating mutation confirms TBX15 deficiency as the cause of Cousin syndromeEsra Dikoglu, Pelin Ozlem Simsek-Kiper, Gulen Eda Utine, et al.
Revue Medicale Suisse|March 8, 2016
[News in paediatrics]Sarah Depallens, Nicolas Lutz, Raffaella Carlomagno, et al.
Genes|September 28, 2021
Agenesis of the Corpus Callosum with Facial Dysmorphism and Intellectual Disability in Sibs Associated with Compound Heterozygous <i>KDM5B</i> VariantsSébastien Lebon, Mathieu Quinodoz, Virginie G Peter, et al.
American Journal of Medical Genetics. Part A|August 19, 2004
Spondyloperipheral dysplasia is caused by truncating mutations in the C-propeptide of COL2A1Andreas Zankl, Bernhard Zabel, Katja Hilbert, et al.
Human Mutation|April 5, 2013
In-depth analysis of hyaline fibromatosis syndrome frameshift mutations at the same site reveal the necessity of personalized therapyShixu E Yan, Thomas Lemmin, Suzanne Salvi, et al.
American Journal of Medical Genetics. Part A|July 1, 2014
Cono-spondylar dysplasia: clinical, radiographic, and molecular findings of a previously unreported disorderTawfeg Ben-Omran, Shenela Lakhani, Mariam Almureikhi, et al.
Pageof 24