المؤلفون: Sandra Janssens, Koenraad Devriendt, Joris Vermeesch, Julie Désir, J. Muys, Erik Fransen, Marjan De Rademaeker, Bettina Blaumeiser, Saskia Bulk, Katrien Janssens, Damien Lederer, Armelle Duquenne, Laura Bourlard, Björn Menten, Kathelijn Keymolen, Mauricette Jamar, Nathalie Brison, Ann Van Den Bogaert, Annelies Dheedene, Yves Sznajer, Yves Jacquemyn, Jean-Stéphane Gatot, Anne Destree, Bruno Pichon, Patrizia Chiarappa, Jorien Kerstjens, Annelies Fieuw, Kris Van Den Bogaert, Anne De Leener, Sonia Rombout

المساهمون: Clinical sciences, Medical Genetics

المصدر: Prenatal diagnosis

مصطلحات موضوعية: Male, 0301 basic medicine, Pediatrics, medicine.medical_specialty, DNA Copy Number Variations, Context (language use), 030105 genetics & heredity, Congenital Abnormalities, National cohort, Cohort Studies, 03 medical and health sciences, 0302 clinical medicine, Belgium, Pregnancy, Prenatal Diagnosis, medicine, Humans, Copy-number variation, Genetics (clinical), Chromosome Aberrations, 030219 obstetrics & reproductive medicine, business.industry, Significant difference, Infant, Newborn, Pregnancy Outcome, Follow up studies, Infant, Obstetrics and Gynecology, Microarray Analysis, medicine.disease, Child development, eye diseases, Patient population, Case-Control Studies, Child, Preschool, Female, Human medicine, business, Follow-Up Studies

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8b52db2e8dae2d0cf945fa66c52a30acTest
https://repository.uantwerpen.be/docstore/d:irua:2802Test

المؤلفون: Carolyn Tysoe, Anne De Leener, Sema Akçurin, Gilbert Vassart, Sian Ellard, Doga Turkkahraman, Sabine Costagliola

المصدر: European Journal of Pediatrics. 167:1231-1237

مصطلحات موضوعية: Male, endocrine system, medicine.medical_specialty, Goiter, endocrine system diseases, Gene Expression, Biology, Transfection, Hyperthyroidism, Iodide Peroxidase, Polymerase Chain Reaction, Polymorphism, Single Nucleotide, Thyroid function tests, Germline, TSHR Gene Mutation, Exon, Germline mutation, Internal medicine, Cyclic AMP, medicine, Humans, Point Mutation, Missense mutation, Germ-Line Mutation, medicine.diagnostic_test, Infant, Newborn, Receptors, Thyrotropin, Valine, medicine.disease, Anti-thyroid autoantibodies, Thyroxine, Endocrinology, Child, Preschool, Pediatrics, Perinatology and Child Health, Triiodothyronine, hormones, hormone substitutes, and hormone antagonists, Immunoglobulins, Thyroid-Stimulating

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c1df39e6d34269171c2d54f059b9508cTest
https://doi.org/10.1007/s00431-007-0659-9Test

المؤلفون: Nelle, Lambert, Vanessa, Wermenbol, Bruno, Pichon, Sandra, Acosta, Jelle, van den Ameele, Camille, Perazzolo, Diana, Messina, Maria-Franca, Musumeci, Barbara, Dessars, Anne, De Leener, Marc, Abramowicz, Catheline, Vilain

المصدر: Autism research : official journal of the International Society for Autism Research. 7(5)

مصطلحات موضوعية: Male, Child Development Disorders, Pervasive, Mutation, Humans, Genetic Predisposition to Disease, Exons, Proto-Oncogene Proteins c-met, Child, Polymerase Chain Reaction, Proto-Oncogene Mas, Sequence Deletion

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::343687a043bb489fc7dde9e941107b3aTest
https://pubmed.ncbi.nlm.nih.gov/24909855Test