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Archives of Disease in Childhood|September 25, 2001
Successful treatment of carbohydrate deficient glycoprotein syndrome type 1b with oral mannoseC J Hendriksz, P McClean, M J Henderson, et al.Molecular Genetics and Metabolism Reports|June 27, 2017
ALG11-CDG: Three novel mutations and further characterization of the phenotypeL Regal, P M van Hasselt, F Foulquier, et al.Leukemia|February 20, 2004
Clinical and molecular features of FIP1L1-PDFGRA (+) chronic eosinophilic leukemiasP Vandenberghe, I Wlodarska, L Michaux, et al.The European Journal of Neuroscience|August 24, 2005
Tissue distribution of the murine phosphomannomutases Pmm1 and Pmm2 during brain developmentK Cromphout, L Keldermans, A Snellinx, et al.American Journal of Medical Genetics|May 9, 2001
Neurological presentation of a congenital disorder of glycosylation CDG-Ia: implications for diagnosis and genetic counselingV Drouin-Garraud, M Belgrand, S Grünewald, et al.Blood|June 22, 2001
Platelet characteristics in patients with X-linked macrothrombocytopenia because of a novel GATA1 mutationK Freson, K Devriendt, G Matthijs, et al.Neuropediatrics|April 12, 2003
Neurological presentation in pediatric patients with congenital disorders of glycosylation type IaE Miossec-Chauvet, Y Mikaeloff, D Heron, et al.JIMD Reports|February 23, 2013
ALG6-CDG in South Africa: Genotype-Phenotype Description of Five Novel PatientsM Dercksen, A C Crutchley, E M Honey, et al.Journal of Medical Genetics|December 24, 1998
1.4 Mb candidate gene region for X linked dyskeratosis congenita defined by combined haplotype and X chromosome inactivation analysisS W Knight, T J Vulliamy, N S Heiss, et al.JIMD Reports|February 23, 2013
The molecular landscape of phosphomannose mutase deficiency in iberian peninsula: identification of 15 population-specific mutationsB Pérez, P Briones, D Quelhas, et al.Pageof 28