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Genetic Counseling (Geneva, Switzerland)|May 23, 2007
Distal joint contractures, mental retardation, characteristic face and growth retardation: Chitayat syndrome revisitedS B Wortmann, R Rodenburg, B Schwahn, et al.Genetic Counseling (Geneva, Switzerland)|October 28, 2003
A girl with cutaneous hyperpigmentation, café au lait spots and ring chromosome 15 without significant deletionE Morava, O Bartsch, M Czako, et al.Molecular Genetics and Metabolism|September 26, 2013
Abnormal fat distribution in PMM2-CDGD F G J Wolthuis, E V van Asbeck, T Kozicz, et al.Journal of Inherited Metabolic Disease|December 3, 2011
Glycosylation defects underlying fetal alcohol spectrum disorder: a novel pathogenetic model. "When the wine goes in, strange things come out" - S.T. Coleridge, The PiccolominiM Binkhorst, S B Wortmann, S Funke, et al.Die Nahrung|January 1, 1984
Effect of soya consumption on hepatic monooxygenase enzyme system and some lipid parameters in ratsM Antal, K Nagy, M Bedö, et al.Biorxiv : the Preprint Server for Biology|July 17, 2025
Predicting disease-overarching therapeutic approaches for Congenital Disorders of Glycosylation using multi-OMICSI J J Muffels, R Budhraja, R Shah, et al.American Journal of Medical Genetics|November 24, 1999
Trinucleotide repeat polymorphism at five disease loci in mixed Hungarian populationP Gyürüs, J Molnár, B Melegh, et al.Orvosi Hetilap|October 17, 2001
[Kennedy disease in a patient with progressive speech disorder]J Kárteszi, E Morava, M Czakó, et al.Molecular Genetics and Metabolism|July 31, 2025
Predicting disease-overarching therapeutic approaches for congenital disorders of glycosylation using multi-OMICSI J J Muffels, R Budhraja, R Shah, et al.International Journal of Pediatric Otorhinolaryngology|June 4, 2013
Otological aspects and surgical outcome in a consanguineous family with a novel ANKH gene mutationH G X M Thomeer, E Morava, B M Verbist, et al.Pageof 9