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Andrea Superti-Furga

Showing results (91-100 of 234) with videos related to

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American Journal of Medical Genetics. Part A|December 14, 2006
COL2A1-related skeletal dysplasias with predominant metaphyseal involvementKerstin Walter, Mojca Tansek, Edward S Tobias, et al.
Revue Medicale Suisse|June 5, 2020
[Sinus node dysfunction, Brugada syndrome and long QT syndrome affecting the same patient : when genetics can't make head or tail of it]Alessandra Pia Porretta, Emeline Davoine, Andrea Superti-Furga, et al.
Human Molecular Genetics|July 25, 2015
N-acetylcysteine treatment ameliorates the skeletal phenotype of a mouse model of diastrophic dysplasiaLuca Monti, Chiara Paganini, Silvia Lecci, et al.
Australasian Journal of Ultrasound in Medicine|July 2, 2025
Vertebral Bone Density Abnormalities in Fetal Ultrasound: A Distinctive Clinical Sign of Spondylocarpotarsal Synostosis Syndrome <i>MYH3</i>-RelatedImmacolata Blasi, Marzia Pollazzon, Stefano Giuseppe Caraffi, et al.
European Journal of Pediatrics|March 28, 2007
Early atherosclerosis in childhood type 1 diabetes: role of raised systolic blood pressure in the absence of dyslipidaemiaKarl Otfried Schwab, Jürgen Doerfer, Andreas Krebs, et al.
Genes|September 28, 2023
Diprosopus: A Rare Case of Craniofacial Duplication and a Systematic Review of the LiteratureViola Trevisani, Eleonora Balestri, Manuela Napoli, et al.
American Journal of Medical Genetics. Part A|September 28, 2021
A monoallelic SEC23A variant E599K associated with cranio-lenticulo-sutural dysplasiaKatarina Cisarova, Livia Garavelli, Stefano Giuseppe Caraffi, et al.
Human Molecular Genetics|February 11, 2005
A diastrophic dysplasia sulfate transporter (SLC26A2) mutant mouse: morphological and biochemical characterization of the resulting chondrodysplasia phenotypeAntonella Forlino, Rocco Piazza, Cecilia Tiveron, et al.
American Journal of Human Genetics|December 11, 2008
TBX15 mutations cause craniofacial dysmorphism, hypoplasia of scapula and pelvis, and short stature in Cousin syndromeEkkehart Lausch, Pia Hermanns, Henner F Farin, et al.
American Journal of Medical Genetics. Part A|August 6, 2013
Long-term follow-up of four patients with Langer-Giedion syndrome: clinical course and complicationsAlbert Schinzel, Mariluce Riegel, Alessandra Baumer, et al.
Pageof 24

Showing results (91-100 of 234) with videos related to

Sort By:
Pageof 24
American Journal of Medical Genetics. Part A|December 14, 2006
COL2A1-related skeletal dysplasias with predominant metaphyseal involvementKerstin Walter, Mojca Tansek, Edward S Tobias, et al.
Revue Medicale Suisse|June 5, 2020
[Sinus node dysfunction, Brugada syndrome and long QT syndrome affecting the same patient : when genetics can't make head or tail of it]Alessandra Pia Porretta, Emeline Davoine, Andrea Superti-Furga, et al.
Human Molecular Genetics|July 25, 2015
N-acetylcysteine treatment ameliorates the skeletal phenotype of a mouse model of diastrophic dysplasiaLuca Monti, Chiara Paganini, Silvia Lecci, et al.
Australasian Journal of Ultrasound in Medicine|July 2, 2025
Vertebral Bone Density Abnormalities in Fetal Ultrasound: A Distinctive Clinical Sign of Spondylocarpotarsal Synostosis Syndrome <i>MYH3</i>-RelatedImmacolata Blasi, Marzia Pollazzon, Stefano Giuseppe Caraffi, et al.
European Journal of Pediatrics|March 28, 2007
Early atherosclerosis in childhood type 1 diabetes: role of raised systolic blood pressure in the absence of dyslipidaemiaKarl Otfried Schwab, Jürgen Doerfer, Andreas Krebs, et al.
Genes|September 28, 2023
Diprosopus: A Rare Case of Craniofacial Duplication and a Systematic Review of the LiteratureViola Trevisani, Eleonora Balestri, Manuela Napoli, et al.
American Journal of Medical Genetics. Part A|September 28, 2021
A monoallelic SEC23A variant E599K associated with cranio-lenticulo-sutural dysplasiaKatarina Cisarova, Livia Garavelli, Stefano Giuseppe Caraffi, et al.
Human Molecular Genetics|February 11, 2005
A diastrophic dysplasia sulfate transporter (SLC26A2) mutant mouse: morphological and biochemical characterization of the resulting chondrodysplasia phenotypeAntonella Forlino, Rocco Piazza, Cecilia Tiveron, et al.
American Journal of Human Genetics|December 11, 2008
TBX15 mutations cause craniofacial dysmorphism, hypoplasia of scapula and pelvis, and short stature in Cousin syndromeEkkehart Lausch, Pia Hermanns, Henner F Farin, et al.
American Journal of Medical Genetics. Part A|August 6, 2013
Long-term follow-up of four patients with Langer-Giedion syndrome: clinical course and complicationsAlbert Schinzel, Mariluce Riegel, Alessandra Baumer, et al.
Pageof 24