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Gert Matthijs

Showing results (171-180 of 199) with videos related to

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Plos Genetics|December 19, 2013
MAN1B1 deficiency: an unexpected CDG-IIDaisy Rymen, Romain Peanne, María B Millón, et al.
Cerebellum (London, England)|February 23, 2021
Clinical and radiological correlates of activities of daily living in cerebellar atrophy caused by PMM2 mutations (PMM2-CDG)Fabio Pettinato, Giovanni Mostile, Roberta Battini, et al.
Annals of Neurology|July 17, 2015
Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemiaMichael A Swanson, Curtis R Coughlin, Gunter H Scharer, et al.
American Journal of Human Genetics|June 12, 2012
TMEM165 deficiency causes a congenital disorder of glycosylationFrançois Foulquier, Mustapha Amyere, Jaak Jaeken, et al.
Annals of Neurology|October 31, 2012
DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsyRita Barone, Chiara Aiello, Valérie Race, et al.
Nature Genetics|December 25, 2007
Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2Uwe Kornak, Ellen Reynders, Aikaterini Dimopoulou, et al.
Human Mutation|May 5, 2017
Critical points for an accurate human genome analysisStefan J White, Jeroen F J Laros, Egbert Bakker, et al.
Human Mutation|November 19, 2016
Mutations in TRAPPC11 are associated with a congenital disorder of glycosylationLeslie Matalonga, Miren Bravo, Carla Serra-Peinado, et al.
American Journal of Human Genetics|January 17, 2003
Expansion of the fragile X CGG repeat in females with premutation or intermediate allelesSarah L Nolin, W Ted Brown, Anne Glicksman, et al.
The Journal of Pediatrics|December 19, 2020
Congenital Disorders of Glycosylation in Portugal-Two Decades of ExperienceDulce Quelhas, Esmeralda Martins, Luísa Azevedo, et al.
Pageof 20

Showing results (171-180 of 199) with videos related to

Sort By:
Pageof 20
Plos Genetics|December 19, 2013
MAN1B1 deficiency: an unexpected CDG-IIDaisy Rymen, Romain Peanne, María B Millón, et al.
Cerebellum (London, England)|February 23, 2021
Clinical and radiological correlates of activities of daily living in cerebellar atrophy caused by PMM2 mutations (PMM2-CDG)Fabio Pettinato, Giovanni Mostile, Roberta Battini, et al.
Annals of Neurology|July 17, 2015
Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemiaMichael A Swanson, Curtis R Coughlin, Gunter H Scharer, et al.
American Journal of Human Genetics|June 12, 2012
TMEM165 deficiency causes a congenital disorder of glycosylationFrançois Foulquier, Mustapha Amyere, Jaak Jaeken, et al.
Annals of Neurology|October 31, 2012
DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsyRita Barone, Chiara Aiello, Valérie Race, et al.
Nature Genetics|December 25, 2007
Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2Uwe Kornak, Ellen Reynders, Aikaterini Dimopoulou, et al.
Human Mutation|May 5, 2017
Critical points for an accurate human genome analysisStefan J White, Jeroen F J Laros, Egbert Bakker, et al.
Human Mutation|November 19, 2016
Mutations in TRAPPC11 are associated with a congenital disorder of glycosylationLeslie Matalonga, Miren Bravo, Carla Serra-Peinado, et al.
American Journal of Human Genetics|January 17, 2003
Expansion of the fragile X CGG repeat in females with premutation or intermediate allelesSarah L Nolin, W Ted Brown, Anne Glicksman, et al.
The Journal of Pediatrics|December 19, 2020
Congenital Disorders of Glycosylation in Portugal-Two Decades of ExperienceDulce Quelhas, Esmeralda Martins, Luísa Azevedo, et al.
Pageof 20