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Beat Steinmann

Showing results (31-40 of 66) with videos related to

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European Journal of Pediatrics|May 13, 2005
Familial X-linked cardiomyopathy (Danon disease): diagnostic confirmation by mutation analysis of the LAMP2geneChristian Balmer, Diana Ballhausen, Nils U Bosshard, et al.
European Heart Journal|September 24, 2009
Evidence for a role of sphingosine-1 phosphate in cardiovascular remodelling in Fabry diseaseNoureddine Brakch, Olivier Dormond, Soumeya Bekri, et al.
American Journal of Medical Genetics. Part A|January 25, 2005
Nevo syndrome is allelic to the kyphoscoliotic type of the Ehlers-Danlos syndrome (EDS VIA)Cecilia Giunta, Ann Randolph, Lihadh I Al-Gazali, et al.
Molecular Genetics and Metabolism|September 6, 2011
The spectrum of phenylketonuria genotypes in the Armenian population: identification of three novel mutant PAH allelesNatella Kostandyan, Corinne Britschgi, Albert Matevosyan, et al.
Molecular Genetics and Metabolism|November 23, 2006
Mutation and biochemical analysis of 19 probands with mut0 and 13 with mut- methylmalonic aciduria: identification of seven novel mutationsThomas J Lempp, Terttu Suormala, Renate Siegenthaler, et al.
JPMA. the Journal of the Pakistan Medical Association|March 21, 2019
Inherited metabolic disorders presenting as hypoxic ischaemic encephalopathy: A case series of patients presenting at a tertiary care hospital in PakistanMaya Zahid, Aysha Habib Khan, Zabedah Md Yunus, et al.
The Journal of Thoracic and Cardiovascular Surgery|September 27, 2006
Different patterns of aortic wall elasticity in patients with Marfan syndrome: a noninvasive follow-up studyDaniela Baumgartner, Christian Baumgartner, Elisabeth Schermer, et al.
American Journal of Medical Genetics. Part A|January 6, 2005
A splicing mutation in the alpha/beta GlcNAc-1-phosphotransferase gene results in an adult onset form of mucolipidosis III associated with sensory neuropathy and cardiomyopathyRichard A Steet, Roger Hullin, Mariko Kudo, et al.
Human Mutation|August 31, 2002
Analysis of the CTNS gene in patients of German and Swiss origin with nephropathic cystinosisMichael Kiehntopf, Jörg Schickel, Bärbel von der Gönne, et al.
Human Genetics|May 12, 2007
Large genomic fibrillin-1 (FBN1) gene deletions provide evidence for true haploinsufficiency in Marfan syndromeGábor Mátyás, Sira Alonso, Andrea Patrignani, et al.
Pageof 7

Showing results (31-40 of 66) with videos related to

Sort By:
Pageof 7
European Journal of Pediatrics|May 13, 2005
Familial X-linked cardiomyopathy (Danon disease): diagnostic confirmation by mutation analysis of the LAMP2geneChristian Balmer, Diana Ballhausen, Nils U Bosshard, et al.
European Heart Journal|September 24, 2009
Evidence for a role of sphingosine-1 phosphate in cardiovascular remodelling in Fabry diseaseNoureddine Brakch, Olivier Dormond, Soumeya Bekri, et al.
American Journal of Medical Genetics. Part A|January 25, 2005
Nevo syndrome is allelic to the kyphoscoliotic type of the Ehlers-Danlos syndrome (EDS VIA)Cecilia Giunta, Ann Randolph, Lihadh I Al-Gazali, et al.
Molecular Genetics and Metabolism|September 6, 2011
The spectrum of phenylketonuria genotypes in the Armenian population: identification of three novel mutant PAH allelesNatella Kostandyan, Corinne Britschgi, Albert Matevosyan, et al.
Molecular Genetics and Metabolism|November 23, 2006
Mutation and biochemical analysis of 19 probands with mut0 and 13 with mut- methylmalonic aciduria: identification of seven novel mutationsThomas J Lempp, Terttu Suormala, Renate Siegenthaler, et al.
JPMA. the Journal of the Pakistan Medical Association|March 21, 2019
Inherited metabolic disorders presenting as hypoxic ischaemic encephalopathy: A case series of patients presenting at a tertiary care hospital in PakistanMaya Zahid, Aysha Habib Khan, Zabedah Md Yunus, et al.
The Journal of Thoracic and Cardiovascular Surgery|September 27, 2006
Different patterns of aortic wall elasticity in patients with Marfan syndrome: a noninvasive follow-up studyDaniela Baumgartner, Christian Baumgartner, Elisabeth Schermer, et al.
American Journal of Medical Genetics. Part A|January 6, 2005
A splicing mutation in the alpha/beta GlcNAc-1-phosphotransferase gene results in an adult onset form of mucolipidosis III associated with sensory neuropathy and cardiomyopathyRichard A Steet, Roger Hullin, Mariko Kudo, et al.
Human Mutation|August 31, 2002
Analysis of the CTNS gene in patients of German and Swiss origin with nephropathic cystinosisMichael Kiehntopf, Jörg Schickel, Bärbel von der Gönne, et al.
Human Genetics|May 12, 2007
Large genomic fibrillin-1 (FBN1) gene deletions provide evidence for true haploinsufficiency in Marfan syndromeGábor Mátyás, Sira Alonso, Andrea Patrignani, et al.
Pageof 7