المؤلفون: Hilde Van Esch, Luc Dehaspe, Kristl G. Claeys, Joris Vermeesch, Nathalie Goemans, Thomy de Ravel, Kris Van Den Bogaert, Valerie Race, Hilde Peeters, Eric Legius, Jazz Storms, Koenraad Devriendt, Nathalie Brison, Darine Villela, Liesbeth De Waele

المساهمون: Medical Genetics

مصطلحات موضوعية: 0301 basic medicine, Adult, congenital, hereditary, and neonatal diseases and abnormalities, DNA Copy Number Variations, endocrine system diseases, Noninvasive Prenatal Testing, Population, Sequence Analysis, DNA/ethics, 030105 genetics & heredity, DNA Copy Number Variations/genetics, Noninvasive Prenatal Testing/ethics, Dystrophin, 03 medical and health sciences, Prenatal Diagnosis, Prenatal Diagnosis/ethics, mental disorders, medicine, Humans, Copy-number variation, education, Genetics (clinical), Genetics, Dystrophin/genetics, Pregnancy, education.field_of_study, Incidental Findings, business.industry, Sequence Analysis, DNA, medicine.disease, Pathogenicity, fetus, NIPS, 030104 developmental biology, Prenatal screening, Dmd gene, secondary findings, Female, pregnancy, business, DMD gene, maternal CNV

وصف الملف: Print-Electronic

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b58ddfaa22b0a77211f3e82a0ce36e8Test
https://lirias.kuleuven.be/handle/123456789/638443Test

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: Johan L.K. Van Hove, Tony Reybrouck, Patrice Givron, Ann Meulemans, Sara Seneca, Joél Smet, Nathalie Goemans, Raphael Sciot, Rudy Van Coster

المساهمون: Department of Embryology and Genetics

المصدر: Vrije Universiteit Brussel

مصطلحات موضوعية: Adult, Mitochondrial DNA, Biopsy, DNA Mutational Analysis, Molecular Sequence Data, mitochondrial DNA, Mitochondrion, Biology, medicine.disease_cause, tRNA genes, DNA, Mitochondrial, Mitochondrial myopathy, Genetics, medicine, Humans, Point Mutation, Muscle, Skeletal, Genetics (clinical), RNA, Transfer, Asp, Mutation, Muscle biopsy, Base Sequence, medicine.diagnostic_test, Point mutation, mitochondrial myopathy, Mitochondrial Myopathies, exercise intolerance, medicine.disease, Molecular biology, Heteroplasmy, Biochemistry, Transfer RNA, tRNAAsp, Female

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::359b88304805283e61a6e85d64c57709Test
https://doi.org/10.1002/ajmg.a.30854Test

المؤلفون: Hülya Kayserili, Koenraad Devriendt, Jean-Jacques Cassiman, Memnune Yüksel Apak, Eric Legius, Els Schollen, Gert Matthijs, Nathalie Goemans

المصدر: Journal of Medical Genetics. 33:469-474

مصطلحات موضوعية: Male, animal diseases, Centromere, Genes, Recessive, Locus (genetics), Spinal Muscular Atrophies of Childhood, Biology, Prenatal Diagnosis, Genetics, medicine, Humans, Muscular dystrophy, Gene, Polymorphism, Single-Stranded Conformational, Genetics (clinical), Homozygote, Infant, Single-strand conformation polymorphism, Spinal muscular atrophy, medicine.disease, SMA, Phenotype, Pedigree, nervous system diseases, nervous system, Carrier State, Female, Gene Deletion, Research Article

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e24b1e84996a74f566eae171816a92cTest
https://doi.org/10.1136/jmg.33.6.469Test

المؤلفون: Davide Pareyson, Vidmer Scaioli, Nathalie Verpoorten, Thomas R. Pieber, Nathalie Goemans, Kristl Claeys, Michaela Auer-Grumbach, Katrien Coen, Gunnar M. Buyse, Eva Nelis, P. De Jonghe, W. Salmhofer, Vincent Timmerman, Matilde Laura

المصدر: Neurology

مصطلحات موضوعية: Adult, Male, Genotype, Nerve Tissue Proteins, Protein Serine-Threonine Kinases, Biology, medicine.disease_cause, Compound heterozygosity, Minor Histocompatibility Antigens, Exon, WNK Lysine-Deficient Protein Kinase 1, Hereditary sensory and autonomic neuropathy, medicine, HSN2, Humans, Hereditary Sensory and Autonomic Neuropathies, Gene, Sequence Deletion, Genetics, Mutation, Chromosomes, Human, Pair 12, Base Sequence, Genetic Carrier Screening, Intracellular Signaling Peptides and Proteins, Chromosome Mapping, Exons, Middle Aged, medicine.disease, Phenotype, Introns, Pedigree, Female, Neurology (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b94b6b17c4c81b75102bd3402ec67a87Test
https://hdl.handle.net/10067/567770151162165141Test

المؤلفون: Jaak Jaeken, Christophe Goubau, Gunnar M. Buyse, Elena Levtchenko, Nathalie Goemans

المصدر: Journal of Pediatric Gastroenterology & Nutrition. 57:e19

مصطلحات موضوعية: Glycerol, Male, Genetics, business.industry, Gastroenterology, MEDLINE, Aquaporin, Gene mutation, Pediatrics, Perinatology and Child Health, Humans, Medicine, Female, Hemochromatosis, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::89507a61f6f12cc30d1b1d5d8f13ac7aTest
https://doi.org/10.1097/mpg.0b013e31829a4ff3Test

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

المؤلفون: Michel Fardeau, Carsten G. Bönnemann, Thomas Voit, Nathalie Goemans, Francesco Muntoni, Pascale Guicheney, Behzad Moghadaszadeh, Heinz Jungbluth, Susana Quijano-Roy, Jean-Jacques Martin, Volker Straub, Marcello Villanova, Brigitte Estournet, Norma B. Romero, Jean-Paul Leroy, Pascale Richard, Ana Ferreiro, Claire Pichereau

المصدر: The American journal of human genetics

مصطلحات موضوعية: Adult, Male, Adolescent, Molecular Sequence Data, Medizin, Muscle Proteins, Biology, Muscular Dystrophies, 03 medical and health sciences, 0302 clinical medicine, Muscular Diseases, Genetics, medicine, Humans, Genetics(clinical), Age of Onset, Muscular dystrophy, Child, Selenoproteins, Myopathy, education, Genetics (clinical), 030304 developmental biology, 0303 health sciences, education.field_of_study, Selenoprotein N, Genetic heterogeneity, Chromosome Mapping, Articles, medicine.disease, Congenital myopathy, 3. Good health, Phenotype, Chromosomes, Human, Pair 1, Mutation, Congenital muscular dystrophy, Female, Spinal Diseases, medicine.symptom, Age of onset, 030217 neurology & neurosurgery, Central core disease

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f109221982defd9d4c064a059303f3e3Test