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

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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.

Experimental and Molecular Pathology|August 1, 1994

Ultrastructural analysis of skin and aorta from a patient with Menkes diseaseI Pasquali-Ronchetti, M Baccarani-Contri, R D Young, 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.

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.

American Journal of Medical Genetics. Part A|April 11, 2003

Long-term survival in Stuve-Wiedemann syndrome: a neuro-myo-skeletal disorder with manifestations of dysautonomiaM Di Rocco, G Stella, C Bruno, et al.

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Showing results (51-60 of 242) with videos related to

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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.

Experimental and Molecular Pathology|August 1, 1994

Ultrastructural analysis of skin and aorta from a patient with Menkes diseaseI Pasquali-Ronchetti, M Baccarani-Contri, R D Young, 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.

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.

American Journal of Medical Genetics. Part A|April 11, 2003

Long-term survival in Stuve-Wiedemann syndrome: a neuro-myo-skeletal disorder with manifestations of dysautonomiaM Di Rocco, G Stella, C Bruno, et al.

Pageof 25