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A Superti-Furga

Showing results (31-40 of 136) with videos related to

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The New England Journal of Medicine|March 9, 2000
Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular typeM Pepin, U Schwarze, A Superti-Furga, et al.
Human Genetics|May 1, 1989
Molecular defects of type III procollagen in Ehlers-Danlos syndrome type IVA Superti-Furga, B Steinmann, F Ramirez, et al.
Human Genetics|May 26, 1998
The human glutaryl-CoA dehydrogenase gene: report of intronic sequences and of 13 novel mutations causing glutaric aciduria type IM Schwartz, E Christensen, A Superti-Furga, et al.
The Journal of Biological Chemistry|November 25, 1991
A 9-base pair deletion in COL1A1 in a lethal variant of osteogenesis imperfectaJ R Hawkins, A Superti-Furga, B Steinmann, et al.
Genomics|August 1, 1993
Complementary DNA sequence and chromosomal mapping of a human proteoglycan-binding cell-adhesion protein (dermatopontin)A Superti-Furga, M Rocchi, B W Schäfer, et al.
European Journal of Pediatrics|November 18, 2000
A 17-month-old boy with bowed legsI Baric, V Skrabic, D Begovic, et al.
Nephron|January 1, 1993
Hypercalciuria and nephrocalcinosis, a feature of Wilson's diseaseB Hoppe, T Neuhaus, A Superti-Furga, et al.
Annals of the New York Academy of Sciences|January 1, 1988
Normal thermal stability of an overmodified type I collagen despite a structural mutation within the triple helical region in a case of osteogenesis imperfecta type IVBP M Royce, A Superti-Furga, V H Rao, et al.
The Journal of Biological Chemistry|March 15, 1991
G to T transversion at position +5 of a splice donor site causes skipping of the preceding exon in the type III procollagen transcripts of a patient with Ehlers-Danlos syndrome type IVB Lee, E Vitale, A Superti-Furga, et al.
Hamostaseologie|May 1, 2009
Identification of a novel factor X deletion in combination with a missense mutation in the F10 gene - Genotype-phenotype correlation in a girl with severe factor X deficiencyIna Hainmann, J Oldenburg, A Pavlova, et al.
Pageof 14

Showing results (31-40 of 136) with videos related to

Sort By:
Pageof 14
The New England Journal of Medicine|March 9, 2000
Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular typeM Pepin, U Schwarze, A Superti-Furga, et al.
Human Genetics|May 1, 1989
Molecular defects of type III procollagen in Ehlers-Danlos syndrome type IVA Superti-Furga, B Steinmann, F Ramirez, et al.
Human Genetics|May 26, 1998
The human glutaryl-CoA dehydrogenase gene: report of intronic sequences and of 13 novel mutations causing glutaric aciduria type IM Schwartz, E Christensen, A Superti-Furga, et al.
The Journal of Biological Chemistry|November 25, 1991
A 9-base pair deletion in COL1A1 in a lethal variant of osteogenesis imperfectaJ R Hawkins, A Superti-Furga, B Steinmann, et al.
Genomics|August 1, 1993
Complementary DNA sequence and chromosomal mapping of a human proteoglycan-binding cell-adhesion protein (dermatopontin)A Superti-Furga, M Rocchi, B W Schäfer, et al.
European Journal of Pediatrics|November 18, 2000
A 17-month-old boy with bowed legsI Baric, V Skrabic, D Begovic, et al.
Nephron|January 1, 1993
Hypercalciuria and nephrocalcinosis, a feature of Wilson's diseaseB Hoppe, T Neuhaus, A Superti-Furga, et al.
Annals of the New York Academy of Sciences|January 1, 1988
Normal thermal stability of an overmodified type I collagen despite a structural mutation within the triple helical region in a case of osteogenesis imperfecta type IVBP M Royce, A Superti-Furga, V H Rao, et al.
The Journal of Biological Chemistry|March 15, 1991
G to T transversion at position +5 of a splice donor site causes skipping of the preceding exon in the type III procollagen transcripts of a patient with Ehlers-Danlos syndrome type IVB Lee, E Vitale, A Superti-Furga, et al.
Hamostaseologie|May 1, 2009
Identification of a novel factor X deletion in combination with a missense mutation in the F10 gene - Genotype-phenotype correlation in a girl with severe factor X deficiencyIna Hainmann, J Oldenburg, A Pavlova, et al.
Pageof 14