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Thatjana Gardeitchik

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Pediatric Clinics of North America|March 6, 2018
Complex Phenotypes in Inborn Errors of Metabolism: Overlapping Presentations in Congenital Disorders of Glycosylation and Mitochondrial DisordersThatjana Gardeitchik, Jeroen Wyckmans, Eva Morava
The Journal of Pediatrics|March 20, 2012
Early clinical manifestations and eating patterns in patients with urea cycle disordersThatjana Gardeitchik, Maureen Humphrey, Judy Nation, et al.
Advances in Experimental Medicine and Biology|January 21, 2014
Cutis LaxaMiski Mohamed, Michiel Voet, Thatjana Gardeitchik, et al.
Pediatric Dermatology|February 21, 2014
Wrinkled skin and fat pads in patients with ALG8-CDG: revisiting skin manifestations in congenital disorders of glycosylationDorus Kouwenberg, Thatjana Gardeitchik, Miski Mohamed, et al.
American Journal of Medical Genetics. Part A|August 12, 2011
Recognizable phenotype with common occurrence of microcephaly, psychomotor retardation, but no spontaneous bone fractures in autosomal recessive cutis laxa type IIB due to PYCR1 mutationsDorus Kouwenberg, Thatjana Gardeitchik, Ron A Wevers, et al.
Journal of Inherited Metabolic Disease|March 25, 2011
Metabolic cutis laxa syndromesMiski Mohamed, Dorus Kouwenberg, Thatjana Gardeitchik, et al.
Journal of Inherited Metabolic Disease|November 1, 2013
Long-term clinical outcome, therapy and mild mitochondrial dysfunction in hyperprolinemiaSteffi van de Ven, Thatjana Gardeitchik, Dorus Kouwenberg, et al.
American Journal of Medical Genetics. Part A|January 25, 2014
A novel phenotype associated with cutis laxa, abnormal fat distribution, cardiomyopathy and cataractEllyze Van Asbeck, David F G J Wolthuis, Miski Mohamed, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|April 29, 2014
Cutis laxa, fat pads and retinopathy due to ALDH18A1 mutation and review of the literatureDavid F G J Wolthuis, Ellyze van Asbeck, Miski Mohamed, et al.
American Journal of Medical Genetics. Part A|February 13, 2013
Perinatal and early infantile symptoms in congenital disorders of glycosylationSimone Funke, Thatjana Gardeitchik, Dorus Kouwenberg, et al.
Pageof 5

Showing results (1-10 of 43) with videos related to

Sort By:
Pageof 5
Pediatric Clinics of North America|March 6, 2018
Complex Phenotypes in Inborn Errors of Metabolism: Overlapping Presentations in Congenital Disorders of Glycosylation and Mitochondrial DisordersThatjana Gardeitchik, Jeroen Wyckmans, Eva Morava
The Journal of Pediatrics|March 20, 2012
Early clinical manifestations and eating patterns in patients with urea cycle disordersThatjana Gardeitchik, Maureen Humphrey, Judy Nation, et al.
Advances in Experimental Medicine and Biology|January 21, 2014
Cutis LaxaMiski Mohamed, Michiel Voet, Thatjana Gardeitchik, et al.
Pediatric Dermatology|February 21, 2014
Wrinkled skin and fat pads in patients with ALG8-CDG: revisiting skin manifestations in congenital disorders of glycosylationDorus Kouwenberg, Thatjana Gardeitchik, Miski Mohamed, et al.
American Journal of Medical Genetics. Part A|August 12, 2011
Recognizable phenotype with common occurrence of microcephaly, psychomotor retardation, but no spontaneous bone fractures in autosomal recessive cutis laxa type IIB due to PYCR1 mutationsDorus Kouwenberg, Thatjana Gardeitchik, Ron A Wevers, et al.
Journal of Inherited Metabolic Disease|March 25, 2011
Metabolic cutis laxa syndromesMiski Mohamed, Dorus Kouwenberg, Thatjana Gardeitchik, et al.
Journal of Inherited Metabolic Disease|November 1, 2013
Long-term clinical outcome, therapy and mild mitochondrial dysfunction in hyperprolinemiaSteffi van de Ven, Thatjana Gardeitchik, Dorus Kouwenberg, et al.
American Journal of Medical Genetics. Part A|January 25, 2014
A novel phenotype associated with cutis laxa, abnormal fat distribution, cardiomyopathy and cataractEllyze Van Asbeck, David F G J Wolthuis, Miski Mohamed, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|April 29, 2014
Cutis laxa, fat pads and retinopathy due to ALDH18A1 mutation and review of the literatureDavid F G J Wolthuis, Ellyze van Asbeck, Miski Mohamed, et al.
American Journal of Medical Genetics. Part A|February 13, 2013
Perinatal and early infantile symptoms in congenital disorders of glycosylationSimone Funke, Thatjana Gardeitchik, Dorus Kouwenberg, et al.
Pageof 5