A Superti-Furga|P M Royce|B Steinmann - JoVE Visualize

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European Journal of Pediatrics|April 1, 1990

Brittle cornea syndrome: an heritable connective tissue disorder distinct from Ehlers-Danlos syndrome type VI and fragilitas oculi, with spontaneous perforations of the eye, blue sclerae, red hair, and normal collagen lysyl hydroxylationP M Royce, B Steinmann, A Vogel, et al.

Praxis|March 21, 2002

[Early-onset generalized polyarthritis (Stickler syndrome)]J Mach, D Sobetzko, A Superti-Furga, et al.

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 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.

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.

Nephron|January 1, 1993

Hypercalciuria and nephrocalcinosis, a feature of Wilson's diseaseB Hoppe, T Neuhaus, 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.

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|August 1, 1988

Lethal osteogenesis imperfecta: abnormal collagen metabolism and biochemical characteristics of hypophosphatasiaP M Royce, A Blumberg, R P Zurbrügg, 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.

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Showing results (41-50 of 242) with videos related to

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Pageof 25

European Journal of Pediatrics|April 1, 1990

Brittle cornea syndrome: an heritable connective tissue disorder distinct from Ehlers-Danlos syndrome type VI and fragilitas oculi, with spontaneous perforations of the eye, blue sclerae, red hair, and normal collagen lysyl hydroxylationP M Royce, B Steinmann, A Vogel, et al.

Praxis|March 21, 2002

[Early-onset generalized polyarthritis (Stickler syndrome)]J Mach, D Sobetzko, A Superti-Furga, et al.

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 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.

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.

Nephron|January 1, 1993

Hypercalciuria and nephrocalcinosis, a feature of Wilson's diseaseB Hoppe, T Neuhaus, 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.

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|August 1, 1988

Lethal osteogenesis imperfecta: abnormal collagen metabolism and biochemical characteristics of hypophosphatasiaP M Royce, A Blumberg, R P Zurbrügg, 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.

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