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Gert Matthijs

Showing results (111-120 of 199) with videos related to

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Human Molecular Genetics|January 8, 2004
Deficiency of the first mannosylation step in the N-glycosylation pathway causes congenital disorder of glycosylation type IkClaudia E Grubenmann, Christian G Frank, Andreas J Hülsmeier, et al.
Birth Defects Research|January 24, 2022
COG6-CDG: Novel variants and novel malformationLara Cirnigliaro, Paolo Bianchi, Luisa Sturiale, et al.
Proceedings of the National Academy of Sciences of the United States of America|April 10, 2013
Newly characterized Golgi-localized family of proteins is involved in calcium and pH homeostasis in yeast and human cellsDidier Demaegd, François Foulquier, Anne-Sophie Colinet, et al.
American Journal of Medical Genetics. Part A|November 24, 2004
Clericuzio type poikiloderma with neutropenia is distinct from Rothmund-Thomson syndromeJohan L K Van Hove, Jaak Jaeken, Marijke Proesmans, et al.
European Journal of Human Genetics : EJHG|October 16, 2004
Screening for FMR-1 premutations in 122 older Flemish males presenting with ataxiaHilde Van Esch, Rene Dom, Dorien Bex, et al.
European Journal of Human Genetics : EJHG|March 16, 2007
A common mutation in the COG7 gene with a consistent phenotype including microcephaly, adducted thumbs, growth retardation, VSD and episodes of hyperthermiaEva Morava, Renate Zeevaert, Eckhard Korsch, et al.
The Journal of Molecular Diagnostics : JMD|October 5, 2012
Molecular analysis of the breast cancer genes BRCA1 and BRCA2 using amplicon-based massive parallel pyrosequencingGeneviève Michils, Silke Hollants, Luc Dehaspe, et al.
American Journal of Human Genetics|May 13, 2003
Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis-lymphedema-telangiectasiaAlexandre Irrthum, Koenraad Devriendt, David Chitayat, et al.
Human Molecular Genetics|April 12, 2013
Impact of disease-causing mutations on TMEM165 subcellular localization, a recently identified protein involved in CDG-IIClaire Rosnoblet, Dominique Legrand, Didier Demaegd, et al.
JIMD Reports|March 2, 2017
Galactose Epimerase Deficiency: Expanding the PhenotypeFilipa Dias Costa, Sacha Ferdinandusse, Carla Pinto, et al.
Pageof 20

Showing results (111-120 of 199) with videos related to

Sort By:
Pageof 20
Human Molecular Genetics|January 8, 2004
Deficiency of the first mannosylation step in the N-glycosylation pathway causes congenital disorder of glycosylation type IkClaudia E Grubenmann, Christian G Frank, Andreas J Hülsmeier, et al.
Birth Defects Research|January 24, 2022
COG6-CDG: Novel variants and novel malformationLara Cirnigliaro, Paolo Bianchi, Luisa Sturiale, et al.
Proceedings of the National Academy of Sciences of the United States of America|April 10, 2013
Newly characterized Golgi-localized family of proteins is involved in calcium and pH homeostasis in yeast and human cellsDidier Demaegd, François Foulquier, Anne-Sophie Colinet, et al.
American Journal of Medical Genetics. Part A|November 24, 2004
Clericuzio type poikiloderma with neutropenia is distinct from Rothmund-Thomson syndromeJohan L K Van Hove, Jaak Jaeken, Marijke Proesmans, et al.
European Journal of Human Genetics : EJHG|October 16, 2004
Screening for FMR-1 premutations in 122 older Flemish males presenting with ataxiaHilde Van Esch, Rene Dom, Dorien Bex, et al.
European Journal of Human Genetics : EJHG|March 16, 2007
A common mutation in the COG7 gene with a consistent phenotype including microcephaly, adducted thumbs, growth retardation, VSD and episodes of hyperthermiaEva Morava, Renate Zeevaert, Eckhard Korsch, et al.
The Journal of Molecular Diagnostics : JMD|October 5, 2012
Molecular analysis of the breast cancer genes BRCA1 and BRCA2 using amplicon-based massive parallel pyrosequencingGeneviève Michils, Silke Hollants, Luc Dehaspe, et al.
American Journal of Human Genetics|May 13, 2003
Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis-lymphedema-telangiectasiaAlexandre Irrthum, Koenraad Devriendt, David Chitayat, et al.
Human Molecular Genetics|April 12, 2013
Impact of disease-causing mutations on TMEM165 subcellular localization, a recently identified protein involved in CDG-IIClaire Rosnoblet, Dominique Legrand, Didier Demaegd, et al.
JIMD Reports|March 2, 2017
Galactose Epimerase Deficiency: Expanding the PhenotypeFilipa Dias Costa, Sacha Ferdinandusse, Carla Pinto, et al.
Pageof 20