المؤلفون: Jorieke E. H. Bergman, Vincent Cantagrel, Jeroen Schoots, Dirk J. Lefeber, Michèl A.A.P. Willemsen, Peter Bluemel, Christian Körner, Ron A. Wevers, Georg F. Hoffmann, Bobby G. Ng, Karin Huijben, Connie M. A. van Ravenswaaij-Arts, Maciej Adamowicz, Hans van Bokhoven, Dusica Babovic-Vuksanovic, Arjan P.M. de Brouwer, Arno van Rooij, Lihadh Al-Gazali, Jeroen van Reeuwijk, Eva Morava, Marjolein C. J. Jongmans, Ludwig Lehle, Jolanta Sykut-Cegielska, Lies H. Hoefsloot, Joseph G. Gleeson

المساهمون: Reproductive Origins of Adult Health and Disease (ROAHD)

المصدر: Brain, 133, 11, pp. 3210-20
Brain, 133, 3210-3220. Oxford University Press
Brain, 133, 3210-20

مصطلحات موضوعية: Male, Pathology, Glycosylation, Polyprenol reductase, Genetics and epigenetic pathways of disease [NCMLS 6], Eye Diseases, Neuroinformatics [DCN 3], CHARGE syndrome, chemistry.chemical_compound, Dolichols, dolichol metabolism, Child, Cerebellar hypoplasia, JOUBERT-SYNDROME, SRD5A3-CDG, Homozygote, polyprenol reductase, Syndrome, Hypoplasia, CDG type Iq, cataract, CHARGE-SYNDROME, Child, Preschool, coloboma, Female, lipids (amino acids, peptides, and proteins), medicine.symptom, Functional Neurogenomics [DCN 2], medicine.medical_specialty, CONGENITAL DISORDERS, Biology, Joubert syndrome, Genomic disorders and inherited multi-system disorders [IGMD 3], Abnormal glycosylation, Dolichol, 3-Oxo-5-alpha-Steroid 4-Dehydrogenase, Cerebellar Diseases, Internal medicine, medicine, Humans, BIOSYNTHESIS, SPECTRUM, Cerebellar ataxia, MUTATIONS, vermis hypoplasia, Infant, Membrane Proteins, Original Articles, Glycostation disorders [IGMD 4], Lipid Metabolism, medicine.disease, GENE, carbohydrates (lipids), glaucoma, Endocrinology, chemistry, Mutation, SRD5A3, CDG, Neurology (clinical), AUTOSOMAL RECESSIVE SYNDROME, MENTAL-RETARDATION, congenital disorders of glycosylation, Microsatellite Repeats

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bea1dc7bce4c935f88e51dacb8481f2dTest
https://doi.org/10.1093/brain/awq261Test

المؤلفون: Morava, Eva, Wevers, Ron A., Cantagrel, Vincent, Hoefsloot, Lies H., Al-Gazali, Lihadh, Schoots, Jeroen, van Rooij, Arno, Huijben, Karin, van Ravenswaaij-Arts, Connie M. A., Jongmans, Marjolein C. J., Sykut-Cegielska, Jolanta, Hoffmann, Georg F., Bluemel, Peter, Adamowicz, Maciej, van Reeuwijk, Jeroen, Ng, Bobby G., Bergman, Jorieke E. H., van Bokhoven, Hans, Koerner, Christian, Babovic-Vuksanovic, Dusica, Willemsen, Michel A., Gleeson, Joseph G., Lehle, Ludwig, de Brouwer, Arjan P. M., Lefeber, Dirk J.

المصدر: Morava , E , Wevers , R A , Cantagrel , V , Hoefsloot , L H , Al-Gazali , L , Schoots , J , van Rooij , A , Huijben , K , van Ravenswaaij-Arts , C M A , Jongmans , M C J , Sykut-Cegielska , J , Hoffmann , G F , Bluemel , P , Adamowicz , M , van Reeuwijk , J , Ng , B G , Bergman , J E H , van Bokhoven , H , Koerner , C , Babovic-Vuksanovic , D , Willemsen , M A , ....

مصطلحات موضوعية: congenital disorders of glycosylation, SRD5A3-CDG, CDG type Iq, glycosylation, dolichol metabolism, polyprenol reductase, SRD5A3, vermis hypoplasia, coloboma, cataract, glaucoma, AUTOSOMAL RECESSIVE SYNDROME, CONGENITAL DISORDERS, CHARGE-SYNDROME, MENTAL-RETARDATION, JOUBERT-SYNDROME, CDG, MUTATIONS, GENE, BIOSYNTHESIS, SPECTRUM

العلاقة: https://research.rug.nl/en/publications/20d9c0de-8532-4d3a-b26c-a83513ba7624Test

الإتاحة: https://doi.org/10.1093/brain/awq261Test
https://hdl.handle.net/11370/20d9c0de-8532-4d3a-b26c-a83513ba7624Test
https://research.rug.nl/en/publications/20d9c0de-8532-4d3a-b26c-a83513ba7624Test