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A Superti-Furga

Showing results (1-10 of 136) with videos related to

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American Journal of Human Genetics|December 1, 1994
A defect in the metabolic activation of sulfate in a patient with achondrogenesis type IBA Superti-Furga
American Journal of Medical Genetics|November 14, 2000
Otopalatodigital syndrome and frontometaphyseal dysplasia, splitters and lumpers, and paternity of ideasA Superti-Furga
European Journal of Pediatrics|August 1, 1988
"Cerebral" lactic acidosis and cerebrospinal fluid pHA Superti-Furga
Journal of Medical Genetics|November 1, 1996
Achondrogenesis type 1BA Superti-Furga
Clinical Genetics|October 14, 2004
Growing bone knowledgeA Superti-Furga
Human Mutation|March 10, 2001
Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevanceA Rossi, A Superti-Furga
Biochemical and Biophysical Research Communications|January 15, 1988
Impaired secretion of type III procollagen in Ehlers-Danlos syndrome type IV fibroblasts: correction of the defect by incubation at reduced temperature and demonstration of subtle alterations in the triple-helical region of the moleculeA Superti-Furga, B Steinmann
Journal of the American Academy of Dermatology|August 1, 1989
Ehlers-Danlos syndrome type IV: another temperature-dependent skin disorder?A Superti-Furga, B Steinmann
European Journal of Pediatrics|December 10, 1997
Glutaric aciduria type 1 (glutaryl-CoA-dehydrogenase deficiency): advances and unanswered questions. Report from an international meetingA Superti-Furga, G F Hoffmann
Revue Medicale Suisse|March 22, 2012
[Why does knowledge on rare diseases allow progress in treatments?]Constance Barazzone Argiroffo, A Superti-Furga
Pageof 14

Showing results (1-10 of 136) with videos related to

Sort By:
Pageof 14
American Journal of Human Genetics|December 1, 1994
A defect in the metabolic activation of sulfate in a patient with achondrogenesis type IBA Superti-Furga
American Journal of Medical Genetics|November 14, 2000
Otopalatodigital syndrome and frontometaphyseal dysplasia, splitters and lumpers, and paternity of ideasA Superti-Furga
European Journal of Pediatrics|August 1, 1988
"Cerebral" lactic acidosis and cerebrospinal fluid pHA Superti-Furga
Journal of Medical Genetics|November 1, 1996
Achondrogenesis type 1BA Superti-Furga
Clinical Genetics|October 14, 2004
Growing bone knowledgeA Superti-Furga
Human Mutation|March 10, 2001
Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevanceA Rossi, A Superti-Furga
Biochemical and Biophysical Research Communications|January 15, 1988
Impaired secretion of type III procollagen in Ehlers-Danlos syndrome type IV fibroblasts: correction of the defect by incubation at reduced temperature and demonstration of subtle alterations in the triple-helical region of the moleculeA Superti-Furga, B Steinmann
Journal of the American Academy of Dermatology|August 1, 1989
Ehlers-Danlos syndrome type IV: another temperature-dependent skin disorder?A Superti-Furga, B Steinmann
European Journal of Pediatrics|December 10, 1997
Glutaric aciduria type 1 (glutaryl-CoA-dehydrogenase deficiency): advances and unanswered questions. Report from an international meetingA Superti-Furga, G F Hoffmann
Revue Medicale Suisse|March 22, 2012
[Why does knowledge on rare diseases allow progress in treatments?]Constance Barazzone Argiroffo, A Superti-Furga
Pageof 14