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Beat Steinmann

Showing results (51-60 of 66) with videos related to

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Pediatric Endocrinology Reviews : PER|January 24, 2006
Progeria: a new kind of Laminopathy-- report of the First European Symposium on Progeria and creation of EURO-Progeria, a European Consortium on Progeria and related disordersThomas Brune, Gisele Bonne, Jonas Denecke, et al.
Nucleic Acids Research|March 31, 2015
New insights into the performance of human whole-exome capture platformsJanine Meienberg, Katja Zerjavic, Irene Keller, et al.
Human Genetics|January 26, 2002
The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi-Bickel syndromeRené Santer, Sebastian Groth, Martina Kinner, et al.
American Journal of Human Genetics|December 17, 2009
Loss of dermatan-4-sulfotransferase 1 function results in adducted thumb-clubfoot syndromeMunis Dündar, Thomas Müller, Qi Zhang, et al.
The Journal of Investigative Dermatology|February 28, 2025
Zinc Transporter ZIP13 G289R Variant from Spondylocheirodysplastic Ehlers-Danlos Syndrome Is Associated with Abnormal Hair QualitySofia Brito, Gunwoo Park, Gang Hyoung Lee, et al.
Cardiovascular Research|May 7, 2019
Celiprolol but not losartan improves the biomechanical integrity of the aorta in a mouse model of vascular Ehlers-Danlos syndromeNicolo Dubacher, Justyna Münger, Maria C Gorosabel, et al.
European Journal of Human Genetics : EJHG|July 22, 2010
Hemizygous deletion of COL3A1, COL5A2, and MSTN causes a complex phenotype with aortic dissection: a lesson for and from true haploinsufficiencyJanine Meienberg, Marianne Rohrbach, Stefan Neuenschwander, et al.
Human Mutation|December 26, 2001
Ten novel FBN2 mutations in congenital contractural arachnodactyly: delineation of the molecular pathogenesis and clinical phenotypePrateek A Gupta, Elizabeth A Putnam, Sonya G Carmical, et al.
American Journal of Medical Genetics. Part A|September 17, 2015
The phenotype of the musculocontractural type of Ehlers-Danlos syndrome due to CHST14 mutationsAndreas R Janecke, Ben Li, Manfred Boehm, et al.
Molecular Genetics and Metabolism|May 18, 2013
ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix componentsMarianne Rohrbach, Helen L Spencer, Louise F Porter, et al.
Pageof 7

Showing results (51-60 of 66) with videos related to

Sort By:
Pageof 7
Pediatric Endocrinology Reviews : PER|January 24, 2006
Progeria: a new kind of Laminopathy-- report of the First European Symposium on Progeria and creation of EURO-Progeria, a European Consortium on Progeria and related disordersThomas Brune, Gisele Bonne, Jonas Denecke, et al.
Nucleic Acids Research|March 31, 2015
New insights into the performance of human whole-exome capture platformsJanine Meienberg, Katja Zerjavic, Irene Keller, et al.
Human Genetics|January 26, 2002
The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi-Bickel syndromeRené Santer, Sebastian Groth, Martina Kinner, et al.
American Journal of Human Genetics|December 17, 2009
Loss of dermatan-4-sulfotransferase 1 function results in adducted thumb-clubfoot syndromeMunis Dündar, Thomas Müller, Qi Zhang, et al.
The Journal of Investigative Dermatology|February 28, 2025
Zinc Transporter ZIP13 G289R Variant from Spondylocheirodysplastic Ehlers-Danlos Syndrome Is Associated with Abnormal Hair QualitySofia Brito, Gunwoo Park, Gang Hyoung Lee, et al.
Cardiovascular Research|May 7, 2019
Celiprolol but not losartan improves the biomechanical integrity of the aorta in a mouse model of vascular Ehlers-Danlos syndromeNicolo Dubacher, Justyna Münger, Maria C Gorosabel, et al.
European Journal of Human Genetics : EJHG|July 22, 2010
Hemizygous deletion of COL3A1, COL5A2, and MSTN causes a complex phenotype with aortic dissection: a lesson for and from true haploinsufficiencyJanine Meienberg, Marianne Rohrbach, Stefan Neuenschwander, et al.
Human Mutation|December 26, 2001
Ten novel FBN2 mutations in congenital contractural arachnodactyly: delineation of the molecular pathogenesis and clinical phenotypePrateek A Gupta, Elizabeth A Putnam, Sonya G Carmical, et al.
American Journal of Medical Genetics. Part A|September 17, 2015
The phenotype of the musculocontractural type of Ehlers-Danlos syndrome due to CHST14 mutationsAndreas R Janecke, Ben Li, Manfred Boehm, et al.
Molecular Genetics and Metabolism|May 18, 2013
ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix componentsMarianne Rohrbach, Helen L Spencer, Louise F Porter, et al.
Pageof 7