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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.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.Clinical Nutrition (Edinburgh, Scotland)|November 13, 2022
Changes in body size and body composition in survivors of childhood cancer: seven years follow-up of a prospective cohort studyAeltsje Brinksma, Esther Sulkers, Dorus Kouwenberg, 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.Molecular Genetics and Metabolism|March 6, 2012
Thyroid function in PMM2-CDG: diagnostic approach and proposed managementMiski Mohamed, Miranda Theodore, Hedi Claahsen-van der Grinten, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 24, 2024
A germline PDGFRB splice site variant associated with infantile myofibromatosis and resistance to imatinibBoutaina Boulouadnine, Mathilde Filser, Camille Leducq, et al.Journal of Inherited Metabolic Disease|May 5, 2011
Nijmegen paediatric CDG rating scale: a novel tool to assess disease progressionSamira Achouitar, Miski Mohamed, Thatjana Gardeitchik, et al.Pageof 1