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Beat Steinmann

Showing results (11-20 of 66) with videos related to

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Molecular Genetics and Metabolism|July 20, 2002
The kyphoscoliotic type of Ehlers-Danlos syndrome (type VI): differential effects on the hydroxylation of lysine in collagens I and II revealed by analysis of cross-linked telopeptides from urineDavid Eyre, Ping Shao, Mary Ann Weis, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|April 23, 2004
The boy with massive glucosuriaAshot Sarkissian, René Santer, Beat Steinmann, et al.
American Journal of Medical Genetics. Part A|April 15, 2008
The arthrochalasia type of Ehlers-Danlos syndrome (EDS VIIA and VIIB): the diagnostic value of collagen fibril ultrastructureCecilia Giunta, Céline Chambaz, Marina Pedemonte, et al.
Neuromuscular Disorders : NMD|December 25, 2007
Differential diagnosis of muscular hypotonia in infants: the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VI)Uluç Yiş, Eray Dirik, Cèline Chambaz, et al.
Human Mutation|December 26, 2001
Quantification of single nucleotide polymorphisms: a novel method that combines primer extension assay and capillary electrophoresisGábor Mátyás, Cecilia Giunta, Beat Steinmann, et al.
The Journal of Pediatrics|May 29, 2002
Quality of life and psychologic adjustment in children and adolescents with early treated phenylketonuria can be normalMarkus A Landolt, Jean-Marc Nuoffer, Beat Steinmann, et al.
Pediatric Nephrology (Berlin, Germany)|November 23, 2006
Xanthinuria type I: a rare cause of urolithiasisNina Arikyants, Ashot Sarkissian, Albrecht Hesse, et al.
American Journal of Physiology. Cell Physiology|March 15, 2006
Pharmacological chaperone corrects lysosomal storage in Fabry disease caused by trafficking-incompetent variantsGary Hin-Fai Yam, Nils Bosshard, Christian Zuber, et al.
Clinical Chemistry|July 26, 2008
Automated HPLC assay for urinary collagen cross-links: effect of age, menopause, and metabolic bone diseasesMarius E Kraenzlin, Claude A Kraenzlin, Christian Meier, et al.
American Journal of Medical Genetics. Part A|December 18, 2003
Brittle cornea syndrome and its delineation from the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VI): report on 23 patients and review of the literatureHailah Al-Hussain, Steffen M Zeisberger, Peter R Huber, et al.
Pageof 7

Showing results (11-20 of 66) with videos related to

Sort By:
Pageof 7
Molecular Genetics and Metabolism|July 20, 2002
The kyphoscoliotic type of Ehlers-Danlos syndrome (type VI): differential effects on the hydroxylation of lysine in collagens I and II revealed by analysis of cross-linked telopeptides from urineDavid Eyre, Ping Shao, Mary Ann Weis, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|April 23, 2004
The boy with massive glucosuriaAshot Sarkissian, René Santer, Beat Steinmann, et al.
American Journal of Medical Genetics. Part A|April 15, 2008
The arthrochalasia type of Ehlers-Danlos syndrome (EDS VIIA and VIIB): the diagnostic value of collagen fibril ultrastructureCecilia Giunta, Céline Chambaz, Marina Pedemonte, et al.
Neuromuscular Disorders : NMD|December 25, 2007
Differential diagnosis of muscular hypotonia in infants: the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VI)Uluç Yiş, Eray Dirik, Cèline Chambaz, et al.
Human Mutation|December 26, 2001
Quantification of single nucleotide polymorphisms: a novel method that combines primer extension assay and capillary electrophoresisGábor Mátyás, Cecilia Giunta, Beat Steinmann, et al.
The Journal of Pediatrics|May 29, 2002
Quality of life and psychologic adjustment in children and adolescents with early treated phenylketonuria can be normalMarkus A Landolt, Jean-Marc Nuoffer, Beat Steinmann, et al.
Pediatric Nephrology (Berlin, Germany)|November 23, 2006
Xanthinuria type I: a rare cause of urolithiasisNina Arikyants, Ashot Sarkissian, Albrecht Hesse, et al.
American Journal of Physiology. Cell Physiology|March 15, 2006
Pharmacological chaperone corrects lysosomal storage in Fabry disease caused by trafficking-incompetent variantsGary Hin-Fai Yam, Nils Bosshard, Christian Zuber, et al.
Clinical Chemistry|July 26, 2008
Automated HPLC assay for urinary collagen cross-links: effect of age, menopause, and metabolic bone diseasesMarius E Kraenzlin, Claude A Kraenzlin, Christian Meier, et al.
American Journal of Medical Genetics. Part A|December 18, 2003
Brittle cornea syndrome and its delineation from the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VI): report on 23 patients and review of the literatureHailah Al-Hussain, Steffen M Zeisberger, Peter R Huber, et al.
Pageof 7