A Superti-Furga|B Steinmann|F Perfumo - JoVE Visualize

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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|December 14, 1999

The painful hip: evaluation of criteria for clinical decision-makingG F Eich, A Superti-Furga, F S Umbricht, 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.

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.

Pageof 31

Showing results (41-50 of 309) with videos related to

Sort By:

Pageof 31

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|December 14, 1999

The painful hip: evaluation of criteria for clinical decision-makingG F Eich, A Superti-Furga, F S Umbricht, 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.

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.

Pageof 31