المؤلفون: Inge Heulens, Charlotte D'Hulst, Sien Braat, Liesbeth Rooms, R. Frank Kooy

المصدر: The Scientific World Journal, Vol 10, Pp 2198-2206 (2010)

مصطلحات موضوعية: Technology, Medicine, Science

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1537-744XTest

الوصول الحر: https://doaj.org/article/dad7eb9435d943df90638ce765ff24eeTest

المؤلفون: Charlotte D'Hulst, Inge Heulens, Nathalie Van der Aa, Karolien Goffin, Michel Koole, Kathleen Porke, Marc Van De Velde, Liesbeth Rooms, Wim Van Paesschen, Hilde Van Esch, Koen Van Laere, R Frank Kooy

المصدر: PLoS ONE, Vol 10, Iss 7, p e0131486 (2015)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

العلاقة: http://europepmc.org/articles/PMC4519313?pdf=renderTest; https://doaj.org/toc/1932-6203Test

الوصول الحر: https://doaj.org/article/158c0a4bbf50404bac4ce79ca7bdfaf4Test

المؤلفون: Sofie Metsu, Liesbeth Rooms, Jacqueline Rainger, Martin S Taylor, Hemant Bengani, David I Wilson, Chandra Sekhar Reddy Chilamakuri, Harris Morrison, Geert Vandeweyer, Edwin Reyniers, Evelyn Douglas, Geoffrey Thompson, Eric Haan, Jozef Gecz, David R Fitzpatrick, R Frank Kooy

المصدر: PLoS Genetics, Vol 10, Iss 4, p e1004242 (2014)

مصطلحات موضوعية: Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: http://europepmc.org/articles/PMC3998887?pdf=renderTest; https://doaj.org/toc/1553-7390Test; https://doaj.org/toc/1553-7404Test

الوصول الحر: https://doaj.org/article/d3dcf43d51eb47b5b7cbeb70d07b6dc0Test

المؤلفون: Philip Holmgren, Anke Verlinden, Liesbeth Rooms, Katrien Vermeulen, Geert Mortier, Marie-Berthe Maes, Sigri Beckers, Bettina Blaumeiser, Katrien Janssens, Kathleen Deiteren

المصدر: Prenatal Diagnosis. 36:760-765

مصطلحات موضوعية: 0301 basic medicine, Genetics, medicine.diagnostic_test, Derivative chromosome, Breakpoint, Obstetrics and Gynecology, Translocation Breakpoint, Chromosomal translocation, Prenatal diagnosis, Biology, medicine.disease, 03 medical and health sciences, genomic DNA, 030104 developmental biology, 0302 clinical medicine, hemic and lymphatic diseases, 030220 oncology & carcinogenesis, medicine, Trisomy, Genetics (clinical), Fluorescence in situ hybridization

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::a78410cac85e70bb6846600935710152Test
https://doi.org/10.1002/pd.4857Test

المؤلفون: Geert Vandeweyer, Anke Van Dijck, Meredith Wilson, Laura G. Hendon, Ann Nordgren, Tjitske Kleefstra, Bert B.A. de Vries, Raphael Bernier, Liesbeth Rooms, R. Frank Kooy, Madhura Bakshi, Jennifer Gerdts, Céline Helsmoortel, Jenneke van den Ende, Omar A. Abdul-Rahman, Nathalie Van der Aa, Corrado Romano, Anneke T. Vulto-van Silfhout, Evan E. Eichler, Bradley P. Coe

المصدر: American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 166:315-326

مصطلحات موضوعية: Genetics, Mutation, Biology, medicine.disease_cause, medicine.disease, SWI/SNF, medicine, Transcriptional regulation, Autism, Nuclear protein, Haploinsufficiency, Gene, Transcription factor, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::8989a507c9dbb319b2628c479890657eTest
https://doi.org/10.1002/ajmg.c.31413Test

المؤلفون: Marek Wojciechowski, Marije E.C. Meuwissen, R. Frank Kooy, Ines V.B. Somers, Sigri Beckers, Liesbeth Rooms

المصدر: Clinical dysmorphology

مصطلحات موضوعية: 0301 basic medicine, DNA Copy Number Variations, Trisomy, Polymorphism, Single Nucleotide, Pathology and Forensic Medicine, 03 medical and health sciences, Chromosome (genetic algorithm), Chromosome Duplication, Medicine, Humans, Abnormalities, Multiple, Biology, Genetics (clinical), Genetic Association Studies, Genetics, Comparative Genomic Hybridization, Chromosomes, Human, Pair 12, business.industry, Partial duplication, Infant, General Medicine, Chromosome Banding, 030104 developmental biology, Phenotype, Pediatrics, Perinatology and Child Health, Female, Human medicine, Anatomy, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::444d31ae2b144bbc32d1d31617ae333dTest
https://pubmed.ncbi.nlm.nih.gov/27500316Test

المؤلفون: Shimriet Zeidler, Rob Willemsen, Detlef Balschun, Victor Sabanov, Laura D'Andrea, R. Frank Kooy, Claudia Bagni, Liesbeth Rooms, Sien Braat

المساهمون: Clinical Genetics

المصدر: Neuropharmacology, 116, 71-81. Elsevier Ltd.
Neuropharmacology

مصطلحات موضوعية: 0301 basic medicine, Male, Patch-Clamp Techniques, Messenger, Hippocampus, Hippocampal formation, Inbred C57BL, Tissue Culture Techniques, Mice, Fragile X Mental Retardation Protein, 0302 clinical medicine, Receptors, Hippocampal, gamma-Aminobutyric Acid, Mice, Knockout, GABAA receptor, Pharmacology. Therapy, Pyramidal Cells, Settore BIO/13, Miniature Postsynaptic Potentials, CA1 Region, Knockout mouse, GABAergic, medicine.drug, Inhibitory postsynaptic current, medicine.medical_specialty, Knockout, Biology, Inhibitory postsynaptic potential, Fmr1 knockout mice, Fragile X syndrome, GABA(A) receptor subunit, Animals, CA1 Region, Hippocampal, Disease Models, Animal, Fragile X Syndrome, GABA-A Receptor Antagonists, Inhibitory Postsynaptic Potentials, Mice, Inbred C57BL, RNA, Messenger, Receptors, GABA-A, gamma-Aminobutyric acid, 03 medical and health sciences, Cellular and Molecular Neuroscience, Internal medicine, medicine, Pharmacology, Animal, GABA-A, FMR1, 030104 developmental biology, Endocrinology, Disease Models, RNA, Human medicine, 030217 neurology & neurosurgery

وصف الملف: pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bad36597d59030e3015ae708cf208b23Test
https://pubmed.ncbi.nlm.nih.gov/28012946Test

المؤلفون: Katrien, Janssens, Kathleen, Deiteren, Anke, Verlinden, Liesbeth, Rooms, Sigri, Beckers, Philip, Holmgren, Katrien, Vermeulen, Marie-Berthe, Maes, Geert, Mortier, Bettina, Blaumeiser

المصدر: Prenatal diagnosis. 36(8)

مصطلحات موضوعية: Adult, Chromosomes, Human, Pair 22, Fusion Proteins, bcr-abl, DNA, Real-Time Polymerase Chain Reaction, Polymorphism, Single Nucleotide, Translocation, Genetic, Pregnancy Trimester, First, Pregnancy, Leukemia, Myelogenous, Chronic, BCR-ABL Positive, Prenatal Diagnosis, Humans, Female, Chromosome Deletion, Chromosomes, Human, Pair 9, Pregnancy Complications, Neoplastic, In Situ Hybridization, Fluorescence

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::fa045016133e059dbf08ecaf81b59306Test
https://pubmed.ncbi.nlm.nih.gov/27293081Test

المؤلفون: Geert Vandeweyer, Geert Mortier, Edwin Reyniers, Nathalie Van der Aa, Lina Dom, Liesbeth Rooms, Sandra Kenis, R. Frank Kooy

المصدر: Autism Research. 5:277-281

مصطلحات موضوعية: Genetics, Language delay, General Neuroscience, Epigenetics of autism, Specific language impairment, medicine.disease, Autism spectrum disorder, medicine, Autism, Heritability of autism, Neurology (clinical), Psychology, Haploinsufficiency, Genetics (clinical), Giant axonal neuropathy

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::f859f1cbe514114c98dae68115fffcbbTest
https://doi.org/10.1002/aur.1240Test

المؤلفون: Edwin Reyniers, Kurt van Mol, R. Frank Kooy, Geert Vandeweyer, Rudi Rossau, Liesbeth Rooms, Ilse De Canck, Nathalie Van der Aa

المصدر: American journal of medical genetics : part A

مصطلحات موضوعية: Genetics, business.industry, Microarray Analysis, medicine.disease, Subtelomere, Fragile X syndrome, genomic DNA, Intellectual Disability, Humans, Medicine, In patient, Multiplex, Human genome, Human medicine, Multiplex ligation-dependent probe amplification, Copy-number variation, Chromosome Deletion, DNA Probes, business, Biology, Algorithms, In Situ Hybridization, Fluorescence, Genetics (clinical), DNA Primers

وصف الملف: pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::00e841aed639de44fef1e242135ea878Test
https://doi.org/10.1002/ajmg.a.33810Test