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A Superti-Furga

Showing results (41-50 of 136) with videos related to

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Clinical Genetics|June 1, 1996
Ehlers-Danlos syndrome type IV caused by Gly400Glu, Gly595Cys and Gly1003Asp substitutions in collagen III: clinical features, biochemical screening, and molecular confirmationK Mackay, M Raghunath, A Superti-Furga, et al.
Revue Medicale Suisse|April 29, 2015
[The transition from pediatric care to the doctor and that of the adult, or the importance of "bridging the gap"]A Superti-Furga, C Barazzone-Argiroffo, G Waeber, et al.
Clinical Genetics|June 7, 2003
A cluster of autosomal recessive spondylocostal dysostosis caused by three newly identified DLL3 mutations segregating in a small villageL Bonafé, C Giunta, M Gassner, et al.
Clinical Genetics|April 10, 2002
RMRP gene sequence analysis confirms a cartilage-hair hypoplasia variant with only skeletal manifestations and reveals a high density of single-nucleotide polymorphismsL Bonafé, K Schmitt, G Eich, et al.
European Journal of Pediatrics|December 14, 1999
The painful hip: evaluation of criteria for clinical decision-makingG F Eich, A Superti-Furga, F S Umbricht, et al.
Connective Tissue Research|January 1, 1993
An intronic deletion leading to skipping of exon 21 of COL1A2 in a boy with mild osteogenesis imperfectaA Superti-Furga, M Raghunath, F M Pistone, et al.
The Journal of Biological Chemistry|August 2, 1996
Undersulfation of proteoglycans synthesized by chondrocytes from a patient with achondrogenesis type 1B homozygous for an L483P substitution in the diastrophic dysplasia sulfate transporterA Rossi, J Bonaventure, A L Delezoide, et al.
Neuropediatrics|April 1, 1994
Somatosensory evoked potentials with high cortical amplitudes: clinical data in 31 childrenB Schmitt, L Thun-Hohenstein, L Molinari, et al.
European Journal of Biochemistry|October 28, 1997
Undersulfation of cartilage proteoglycans ex vivo and increased contribution of amino acid sulfur to sulfation in vitro in McAlister dysplasia/atelosteogenesis type 2A Rossi, J Bonaventure, A L Delezoide, et al.
Clinical Genetics|February 5, 2005
Winchester syndrome caused by a homozygous mutation affecting the active site of matrix metalloproteinase 2A Zankl, L Bonafé, V Calcaterra, et al.
Pageof 14

Showing results (41-50 of 136) with videos related to

Sort By:
Pageof 14
Clinical Genetics|June 1, 1996
Ehlers-Danlos syndrome type IV caused by Gly400Glu, Gly595Cys and Gly1003Asp substitutions in collagen III: clinical features, biochemical screening, and molecular confirmationK Mackay, M Raghunath, A Superti-Furga, et al.
Revue Medicale Suisse|April 29, 2015
[The transition from pediatric care to the doctor and that of the adult, or the importance of "bridging the gap"]A Superti-Furga, C Barazzone-Argiroffo, G Waeber, et al.
Clinical Genetics|June 7, 2003
A cluster of autosomal recessive spondylocostal dysostosis caused by three newly identified DLL3 mutations segregating in a small villageL Bonafé, C Giunta, M Gassner, et al.
Clinical Genetics|April 10, 2002
RMRP gene sequence analysis confirms a cartilage-hair hypoplasia variant with only skeletal manifestations and reveals a high density of single-nucleotide polymorphismsL Bonafé, K Schmitt, G Eich, et al.
European Journal of Pediatrics|December 14, 1999
The painful hip: evaluation of criteria for clinical decision-makingG F Eich, A Superti-Furga, F S Umbricht, et al.
Connective Tissue Research|January 1, 1993
An intronic deletion leading to skipping of exon 21 of COL1A2 in a boy with mild osteogenesis imperfectaA Superti-Furga, M Raghunath, F M Pistone, et al.
The Journal of Biological Chemistry|August 2, 1996
Undersulfation of proteoglycans synthesized by chondrocytes from a patient with achondrogenesis type 1B homozygous for an L483P substitution in the diastrophic dysplasia sulfate transporterA Rossi, J Bonaventure, A L Delezoide, et al.
Neuropediatrics|April 1, 1994
Somatosensory evoked potentials with high cortical amplitudes: clinical data in 31 childrenB Schmitt, L Thun-Hohenstein, L Molinari, et al.
European Journal of Biochemistry|October 28, 1997
Undersulfation of cartilage proteoglycans ex vivo and increased contribution of amino acid sulfur to sulfation in vitro in McAlister dysplasia/atelosteogenesis type 2A Rossi, J Bonaventure, A L Delezoide, et al.
Clinical Genetics|February 5, 2005
Winchester syndrome caused by a homozygous mutation affecting the active site of matrix metalloproteinase 2A Zankl, L Bonafé, V Calcaterra, et al.
Pageof 14