المؤلفون: Geert Vandeweyer, Willy M. Nillesen, Sven Parkel, P Finnemore, John C. K. Barber, F Kooy, Bart Loeys, K Lachlan, John A. Crolla, Carl Baker, Nicola Foulds, N. Van der Aa, Viv K. Maloney, Luis A. Pérez-Jurado, B. B. A. De Vries, Tjitske Kleefstra, R. Pfundt, T.J.L. de Ravel, Ernie M.H.F. Bongers, Jeffrey W. Innis, Samantha J. L. Knight, L E Connell, Joris Vermeesch, Ants Kurg, Franki Speleman, S Huang, M van Kalmthout, Heather C Mefford, Marcelo A. Nobrega, Han G. Brunner, Christopher Geoffrey Woods, N. de Leeuw, B W M van Bon, Marco Fichera, Catherine Mercer, Clara Serra-Juhé, Sandra Janssens, C M A van Ravenswaaij, Ingrid Simonic, Björn Menten, Geert Mortier, Maurizio Elia, Alexandre C. Pereira, Lionel Willatt, J. P. Fryns, B Castle, Andrew J. Sharp, Katrin Õunap, A Oostra, Santina Reitano, Corrado Romano, David A. Koolen, H. Stewart, K Smith, Evan E. Eichler

المساهمون: Clinical sciences, Medical Genetics, Erasmushogeschool Brussel, Chemical Engineering and Industrial Chemistry, Faculty of Engineering, Vrije Universiteit Brussel, Faculty of Psychology and Educational Sciences, Faculty of Law and Criminology

المصدر: JOURNAL OF MEDICAL GENETICS, 46(8), 511-523. BMJ PUBLISHING GROUP
JOURNAL OF MEDICAL GENETICS
Journal of medical genetics
Journal of Medical Genetics, 46, 8, pp. 511-23
Journal of Medical Genetics, 46, 511-23

مصطلحات موضوعية: Proband, Male, LINKAGE DISEQUILIBRIUM, Genetics and epigenetic pathways of disease [NCMLS 6], Chromosome Disorders, Disease, Bioinformatics, CHROMOSOME 22Q11, Epilepsy, PRADER-WILLI, Chromosome Disorders/genetics, Gene Duplication, Gene duplication, HUMAN GENOME, Copy-number variation, MOLECULAR CHARACTERIZATION, Child, Genetics (clinical), Segmental duplication, Oligonucleotide Array Sequence Analysis, Genetics, Chromosomes, Human, Pair 15/genetics, ABSENT-RADIUS SYNDROME, Microdeletion syndrome, syndrome, Pedigree, Female, pregnancy, Chromosome Deletion, Functional Neurogenomics [DCN 2], Adult, Adolescent, Child, preschool, SEGMENTAL DUPLICATIONS, COPY-NUMBER VARIATION, Biology, Article, Genomic disorders and inherited multi-system disorders [IGMD 3], Intellectual Disability, medicine, Humans, Clinical significance, Chromosome Aberrations, Chromosomes, Human, Pair 15, Infant, Newborn, Infant, medicine.disease, Intellectual Disability/genetics, Human medicine, ARRAY-CGH, MENTAL-RETARDATION

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d06febf35b11ebd2e18af4936f3b546Test
https://hdl.handle.net/20.500.14017/5a89518b-61dd-4618-b6d6-30e671f9cca0Test

المؤلفون: C M A van Ravenswaaij, Albert Schinzel, C. Evans, David A. Koolen, Melissa Lees, Ilse Feenstra, Mariluce Riegel, R.M. Winter, A. Siezen, B. B. A. De Vries, J. Fang

المصدر: European Journal of Medical Genetics, 49, 4, pp. 279-91
European Journal of Medical Genetics, 49, 279-91

مصطلحات موضوعية: Chromosome Aberrations, Internet, Association (object-oriented programming), MEDLINE, Online database, Chromosome, Chromosomal translocation, General Medicine, Computational biology, Biology, Bioinformatics, Online Systems, Clinical knowledge, Europe, Genomic disorders and inherited multi-system disorders [IGMD 3], Rare Diseases, Genetic defects of metabolism [UMCN 5.1], Databases, Genetic, Genetics, Humans, Registries, Functional Neurogenomics [DCN 2], Genetics (clinical)

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::23efe40d8111218e390e760d62d1739aTest
https://hdl.handle.net/2066/49960Test

المؤلفون: C M A van Ravenswaaij, K. B. J. Gerssen-Schoorl, Arie P. T. Smits, Dominique Smeets, J. O. Van Hemel, J. M. De Pater, G Janssen

المساهمون: Clinical Genetics

المصدر: Journal of Medical Genetics, 34, pp. 18-23
Journal of Medical Genetics, 34, 18-23
Journal of Medical Genetics, 34(1), 18-23. BMJ Publishing Group
Journal of Medical Genetics, 34, 1, pp. 18-23

مصطلحات موضوعية: Adult, Male, Breuk-gevoelige plaatsen in chromosomen bij de mens, Heterozygote, (Fragile) breakage-prone sites in human chromosomes, Chromosomal translocation, Chromosome Disorders, Trisomy, Biology, Long arm, Translocation, Genetic, Polymorphism (computer science), Intellectual Disability, Genetics, medicine, Humans, Child, GeneralLiterature_REFERENCE(e.g.,dictionaries,encyclopedias,glossaries), Genetics (clinical), Chromosome 13, Chromosome Aberrations, Partial Trisomy, Polymorphism, Genetic, Chromosomes, Human, Pair 13, Chromosomes, Human, Pair 11, Chromosome, Infant, Karyotype, medicine.disease, Pedigree, Female, Research Article

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7fdfee428ece4feb88dc390905ac16bcTest
https://hdl.handle.net/2066/150683Test