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Beat Steinmann

Showing results (21-30 of 66) with videos related to

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Iranian Journal of Pediatrics|October 12, 2012
Ehlers-Danlos Syndrome Type VI in a 17-Year-Old Iranian Boy with Severe Muscular Weakness - A Diagnostic Challenge?Ariana Kariminejad, Bita Bozorgmehr, Alireza Khatami, et al.
Journal of Biomedical Informatics|August 3, 2005
A bioinformatics framework for genotype-phenotype correlation in humans with Marfan syndrome caused by FBN1 gene mutationsChristian Baumgartner, Gábor Mátyás, Beat Steinmann, et al.
Human Mutation|April 5, 2002
Evaluation and application of denaturing HPLC for mutation detection in Marfan syndrome: Identification of 20 novel mutations and two novel polymorphisms in the FBN1 geneGábor Mátyás, Anne De Paepe, Dorothy Halliday, et al.
Clinical Genetics|September 12, 2019
Variant filtering, digenic variants, and other challenges in clinical sequencing: a lesson from fibrillinopathiesArash Najafi, Sylvan M Caspar, Janine Meienberg, et al.
Pediatric Pathology & Molecular Medicine|December 25, 2003
In vitro proteoglycan sulfation derived from sulfhydryl compounds in sulfate transporter chondrodysplasiasAntonio Rossi, Giuseppe Cetta, Rocco Piazza, et al.
Human Mutation|June 23, 2006
Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disordersGábor Mátyás, Eliane Arnold, Thierry Carrel, et al.
Clinical Hemorheology and Microcirculation|May 13, 2009
Nailfold capillaroscopy: Specific features in Fabry diseaseJan S Wasik, Roger W Simon, Thomas Meier, et al.
Lymphatic Research and Biology|December 31, 2004
Severe lymphatic microangiopathy in Fabry diseaseBeatrice R Amann-Vesti, Gabriele Gitzelmann, Urs Widmer, et al.
Orphanet Journal of Rare Diseases|April 23, 2016
A summary of molecular genetic findings in fructose-1,6-bisphosphatase deficiency with a focus on a common long-range deletion and the role of MLPA analysisRené Santer, Marcel du Moulin, Tatevik Shahinyan, et al.
European Journal of Pediatrics|July 10, 2012
Non-invasive diagnosis of lung tuberculosis in children by single voxel ¹H-magnetic resonance spectroscopyKy Santy, Phang Nan, Yay Chantana, et al.
Pageof 7

Showing results (21-30 of 66) with videos related to

Sort By:
Pageof 7
Iranian Journal of Pediatrics|October 12, 2012
Ehlers-Danlos Syndrome Type VI in a 17-Year-Old Iranian Boy with Severe Muscular Weakness - A Diagnostic Challenge?Ariana Kariminejad, Bita Bozorgmehr, Alireza Khatami, et al.
Journal of Biomedical Informatics|August 3, 2005
A bioinformatics framework for genotype-phenotype correlation in humans with Marfan syndrome caused by FBN1 gene mutationsChristian Baumgartner, Gábor Mátyás, Beat Steinmann, et al.
Human Mutation|April 5, 2002
Evaluation and application of denaturing HPLC for mutation detection in Marfan syndrome: Identification of 20 novel mutations and two novel polymorphisms in the FBN1 geneGábor Mátyás, Anne De Paepe, Dorothy Halliday, et al.
Clinical Genetics|September 12, 2019
Variant filtering, digenic variants, and other challenges in clinical sequencing: a lesson from fibrillinopathiesArash Najafi, Sylvan M Caspar, Janine Meienberg, et al.
Pediatric Pathology & Molecular Medicine|December 25, 2003
In vitro proteoglycan sulfation derived from sulfhydryl compounds in sulfate transporter chondrodysplasiasAntonio Rossi, Giuseppe Cetta, Rocco Piazza, et al.
Human Mutation|June 23, 2006
Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disordersGábor Mátyás, Eliane Arnold, Thierry Carrel, et al.
Clinical Hemorheology and Microcirculation|May 13, 2009
Nailfold capillaroscopy: Specific features in Fabry diseaseJan S Wasik, Roger W Simon, Thomas Meier, et al.
Lymphatic Research and Biology|December 31, 2004
Severe lymphatic microangiopathy in Fabry diseaseBeatrice R Amann-Vesti, Gabriele Gitzelmann, Urs Widmer, et al.
Orphanet Journal of Rare Diseases|April 23, 2016
A summary of molecular genetic findings in fructose-1,6-bisphosphatase deficiency with a focus on a common long-range deletion and the role of MLPA analysisRené Santer, Marcel du Moulin, Tatevik Shahinyan, et al.
European Journal of Pediatrics|July 10, 2012
Non-invasive diagnosis of lung tuberculosis in children by single voxel ¹H-magnetic resonance spectroscopyKy Santy, Phang Nan, Yay Chantana, et al.
Pageof 7