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A Superti-Furga

Showing results (51-60 of 136) with videos related to

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Nucleic Acids Research|October 11, 1990
A HaeIII RFLP in COL1A1K Mackay, J R Hawkins, A Superti-Furga, et al.
The Journal of Bone and Joint Surgery. American Volume|March 12, 1999
Ehlers-Danlos syndrome type VII: clinical features and molecular defectsC Giunta, A Superti-Furga, S Spranger, et al.
Pediatric Research|October 1, 1994
Prenatal diagnosis of collagen disorders by direct biochemical analysis of chorionic villus biopsiesM Raghunath, B Steinmann, C Delozier-Blanchet, et al.
Klinische Padiatrie|February 10, 2009
[Successful continuous renal replacement therapy in a neonate with early-onset group B streptococcal sepsis and multi-organ dysfunction syndrome]C von Schnakenburg, M Hufnagel, A Superti-Furga, et al.
American Journal of Medical Genetics|May 3, 1996
A specific collagen type II gene (COL2A1) mutation presenting as spondyloperipheral dysplasiaB Zabel, K Hilbert, H Stöss, et al.
Annals of the New York Academy of Sciences|January 1, 1988
Delayed triple-helix formation of abnormal type I collagen is corrected by reduced temperature. Studies of a family with variable expression of osteogenesis imperfectaA Superti-Furga, P M Royce, F M Pistone, et al.
The Biochemical Journal|November 1, 1991
Substitution of cysteine for glycine-alpha 1-691 in the pro alpha 1(I) chain of type I procollagen in a proband with lethal osteogenesis imperfecta destabilizes the triple helix at a site C-terminal to the substitutionB Steinmann, A Westerhausen, C D Constantinou, et al.
American Journal of Human Genetics|March 1, 1991
Characterization of a large deletion associated with a polymorphic block of repeated dinucleotides in the type III procollagen gene (COL3A1) of a patient with Ehlers-Danlos syndrome type IVB Lee, M D'Alessio, H Vissing, et al.
Genetic Counseling (Geneva, Switzerland)|May 23, 2007
Duane anomaly, meningomyelocele, dextroposition of heart and localized vertebrocostal alterations with associated anomalies in a girlO Cogulu, C Gunduz, E Karaca, et al.
American Journal of Medical Genetics|March 4, 2000
Boy with syndactylies, macrocephaly, and severe skeletal dysplasia: not a new syndrome, but two dominant mutations (GLI3 E543X and COL2A1 G973R) in the same individualD Sobetzko, G Eich, M Kalff-Suske, et al.
Pageof 14

Showing results (51-60 of 136) with videos related to

Sort By:
Pageof 14
Nucleic Acids Research|October 11, 1990
A HaeIII RFLP in COL1A1K Mackay, J R Hawkins, A Superti-Furga, et al.
The Journal of Bone and Joint Surgery. American Volume|March 12, 1999
Ehlers-Danlos syndrome type VII: clinical features and molecular defectsC Giunta, A Superti-Furga, S Spranger, et al.
Pediatric Research|October 1, 1994
Prenatal diagnosis of collagen disorders by direct biochemical analysis of chorionic villus biopsiesM Raghunath, B Steinmann, C Delozier-Blanchet, et al.
Klinische Padiatrie|February 10, 2009
[Successful continuous renal replacement therapy in a neonate with early-onset group B streptococcal sepsis and multi-organ dysfunction syndrome]C von Schnakenburg, M Hufnagel, A Superti-Furga, et al.
American Journal of Medical Genetics|May 3, 1996
A specific collagen type II gene (COL2A1) mutation presenting as spondyloperipheral dysplasiaB Zabel, K Hilbert, H Stöss, et al.
Annals of the New York Academy of Sciences|January 1, 1988
Delayed triple-helix formation of abnormal type I collagen is corrected by reduced temperature. Studies of a family with variable expression of osteogenesis imperfectaA Superti-Furga, P M Royce, F M Pistone, et al.
The Biochemical Journal|November 1, 1991
Substitution of cysteine for glycine-alpha 1-691 in the pro alpha 1(I) chain of type I procollagen in a proband with lethal osteogenesis imperfecta destabilizes the triple helix at a site C-terminal to the substitutionB Steinmann, A Westerhausen, C D Constantinou, et al.
American Journal of Human Genetics|March 1, 1991
Characterization of a large deletion associated with a polymorphic block of repeated dinucleotides in the type III procollagen gene (COL3A1) of a patient with Ehlers-Danlos syndrome type IVB Lee, M D'Alessio, H Vissing, et al.
Genetic Counseling (Geneva, Switzerland)|May 23, 2007
Duane anomaly, meningomyelocele, dextroposition of heart and localized vertebrocostal alterations with associated anomalies in a girlO Cogulu, C Gunduz, E Karaca, et al.
American Journal of Medical Genetics|March 4, 2000
Boy with syndactylies, macrocephaly, and severe skeletal dysplasia: not a new syndrome, but two dominant mutations (GLI3 E543X and COL2A1 G973R) in the same individualD Sobetzko, G Eich, M Kalff-Suske, et al.
Pageof 14