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Beat Steinmann

Showing results (61-70 of 66) with videos related to

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American Journal of Human Genetics|January 31, 2012
Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndromeJohannes A Mayr, Tobias B Haack, Elisabeth Graf, et al.
Human Mutation|August 26, 2003
Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism databaseGwenaëlle Collod-Béroud, Saga Le Bourdelles, Lesley Ades, et al.
American Journal of Human Genetics|January 24, 2012
Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing lossMatthias Baumann, Cecilia Giunta, Birgit Krabichler, et al.
Nature Genetics|November 11, 2008
Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golginHans Christian Hennies, Uwe Kornak, Haikuo Zhang, et al.
American Journal of Human Genetics|January 3, 2012
Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6Yvonne Nitschke, Geneviève Baujat, Ulrike Botschen, et al.
Journal of Inherited Metabolic Disease|May 31, 2015
Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiencyMartina Huemer, Regina Mulder-Bleile, Patricie Burda, et al.
Pageof 7

Showing results (61-70 of 66) with videos related to

Sort By:
Pageof 7
You have reached the last page of results.This site can display upto 66 results.
American Journal of Human Genetics|January 31, 2012
Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndromeJohannes A Mayr, Tobias B Haack, Elisabeth Graf, et al.
Human Mutation|August 26, 2003
Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism databaseGwenaëlle Collod-Béroud, Saga Le Bourdelles, Lesley Ades, et al.
American Journal of Human Genetics|January 24, 2012
Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing lossMatthias Baumann, Cecilia Giunta, Birgit Krabichler, et al.
Nature Genetics|November 11, 2008
Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golginHans Christian Hennies, Uwe Kornak, Haikuo Zhang, et al.
American Journal of Human Genetics|January 3, 2012
Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6Yvonne Nitschke, Geneviève Baujat, Ulrike Botschen, et al.
Journal of Inherited Metabolic Disease|May 31, 2015
Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiencyMartina Huemer, Regina Mulder-Bleile, Patricie Burda, et al.
Pageof 7