المؤلفون: Thierry Hennet, Wendy Vleugels, Luc Régal, Gert Matthijs, Jacques Jaeken, Nathalie Goemans, Carlo Dionisi-Vici, Micha A. Haeuptle, C Corchia, François Foulquier

المساهمون: University of Zurich, Jaeken, J

المصدر: Journal of Inherited Metabolic Disease. 32:335-338

مصطلحات موضوعية: Lipopolysaccharides, Male, 2716 Genetics (clinical), congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Glycan, Glycosylation, Hearing loss, Hearing Loss, Sensorineural, 610 Medicine & health, Biology, medicine.disease_cause, Bioinformatics, 10052 Institute of Physiology, chemistry.chemical_compound, Congenital Disorders of Glycosylation, 1311 Genetics, Internal medicine, Genetics, medicine, Humans, Genetics (clinical), Mutation, Membrane Glycoproteins, Endoplasmic reticulum, Infant, Newborn, Infant, medicine.disease, Human genetics, carbohydrates (lipids), Endocrinology, chemistry, 10076 Center for Integrative Human Physiology, biology.protein, 570 Life sciences, biology, Female, lipids (amino acids, peptides, and proteins), medicine.symptom, Lipid glycosylation, Cutis laxa

وصف الملف: RFT1_deafness_V.pdf - application/pdf; Jaeken_et_al_JIMD_2009.pdf - application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7eff7a9e09423cac9cab4ce7c5e92016Test
https://doi.org/10.1007/s10545-009-1297-3Test

المؤلفون: Inge Francois, Jaak Jaeken, Jean-Pierre Fryns, Nathalie Goemans, F. de Zegher

المصدر: Journal of inherited metabolic disease. 19(3)

مصطلحات موضوعية: medicine.medical_specialty, Adolescent, Proline, Chromosomes, Human, Pair 22, In situ hybridization, Biology, Contiguous gene syndrome, Internal medicine, Genetics, medicine, Proline Oxidase, Humans, Abnormalities, Multiple, Genetics (clinical), Heparin cofactor II, Oxidase test, Proline oxidase, Psychomotor retardation, Syndrome, medicine.disease, Endocrinology, Hyperprolinemia, Heparin Cofactor II, Female, medicine.symptom, Gene Deletion

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2893605a00c7ed5a17b8e2658b97ce68Test
https://pubmed.ncbi.nlm.nih.gov/8803768Test