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Matthias Baumgartner

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

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Nature Medicine|February 24, 2006
Mutations in antiquitin in individuals with pyridoxine-dependent seizuresPhilippa B Mills, Eduard Struys, Cornelis Jakobs, et al.
Nucleic Acids Research|April 17, 2015
Splice-shifting oligonucleotide (SSO) mediated blocking of an exonic splicing enhancer (ESE) created by the prevalent c.903+469T>C MTRR mutation corrects splicing and restores enzyme activity in patient cellsBruno Palhais, Veronica S Præstegaard, Rugivan Sabaratnam, et al.
Lijecnicki Vjesnik|June 8, 2011
[Vitamin B12 deficiency in children--underestimated danger in the light of new knowledge]Karin Juras, Ksenija Fumić, Senka Izaković, et al.
Swiss Medical Weekly|June 25, 2020
Swiss newborn screening for severe T and B cell deficiency with a combined TREC/KREC assay - management recommendationsJohannes Trück, Seraina Prader, Giancarlo Natalucci, et al.
Journal of Inherited Metabolic Disease|October 22, 2020
Clinical and molecular characterization of adult patients with late-onset MTHFR deficiencyCecilia Marelli, Christian Lavigne, Karolina M Stepien, 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.
Ebiomedicine|August 15, 2021
Persistence of immunity to SARS-CoV-2 over time in the ski resort IschglWegene Borena, Zoltán Bánki, Katie Bates, et al.
Nature Genetics|January 13, 2009
Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolismFrank Rutsch, Susann Gailus, Isabelle R Miousse, et al.
Journal of Inherited Metabolic Disease|March 7, 2014
Clinical presentation and outcome in a series of 88 patients with the cblC defectSabine Fischer, Martina Huemer, Matthias Baumgartner, et al.
Molecular Genetics and Metabolism|March 2, 2010
Establishing a consortium for the study of rare diseases: The Urea Cycle Disorders ConsortiumJennifer Seminara, Mendel Tuchman, Lauren Krivitzky, et al.
Pageof 4

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

Sort By:
Pageof 4
You have reached the last page of results.This site can display upto 40 results.
Nature Medicine|February 24, 2006
Mutations in antiquitin in individuals with pyridoxine-dependent seizuresPhilippa B Mills, Eduard Struys, Cornelis Jakobs, et al.
Nucleic Acids Research|April 17, 2015
Splice-shifting oligonucleotide (SSO) mediated blocking of an exonic splicing enhancer (ESE) created by the prevalent c.903+469T>C MTRR mutation corrects splicing and restores enzyme activity in patient cellsBruno Palhais, Veronica S Præstegaard, Rugivan Sabaratnam, et al.
Lijecnicki Vjesnik|June 8, 2011
[Vitamin B12 deficiency in children--underestimated danger in the light of new knowledge]Karin Juras, Ksenija Fumić, Senka Izaković, et al.
Swiss Medical Weekly|June 25, 2020
Swiss newborn screening for severe T and B cell deficiency with a combined TREC/KREC assay - management recommendationsJohannes Trück, Seraina Prader, Giancarlo Natalucci, et al.
Journal of Inherited Metabolic Disease|October 22, 2020
Clinical and molecular characterization of adult patients with late-onset MTHFR deficiencyCecilia Marelli, Christian Lavigne, Karolina M Stepien, 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.
Ebiomedicine|August 15, 2021
Persistence of immunity to SARS-CoV-2 over time in the ski resort IschglWegene Borena, Zoltán Bánki, Katie Bates, et al.
Nature Genetics|January 13, 2009
Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolismFrank Rutsch, Susann Gailus, Isabelle R Miousse, et al.
Journal of Inherited Metabolic Disease|March 7, 2014
Clinical presentation and outcome in a series of 88 patients with the cblC defectSabine Fischer, Martina Huemer, Matthias Baumgartner, et al.
Molecular Genetics and Metabolism|March 2, 2010
Establishing a consortium for the study of rare diseases: The Urea Cycle Disorders ConsortiumJennifer Seminara, Mendel Tuchman, Lauren Krivitzky, et al.
Pageof 4