المؤلفون: T. De Ravel, Marjolijn C.J. Jongmans, Livia Kapusta, Joris A. Veltman, Lisenka E.L.M. Vissers, B. B. A. De Vries, Han G. Brunner, C M A van Ravenswaaij, Dian Donnai, L. H. Hoefsloot, Annette F. Baas, A. Geurts van Kessel, K. van der Donk, Ronald J.C. Admiraal, J M van Hagen

المساهمون: Clinical sciences, Medical Genetics, Faculty of Law and Criminology

المصدر: Journal of Medical Genetics, 43, 306-14
Journal of Medical Genetics, 43, 4, pp. 306-14

مصطلحات موضوعية: Male, Genetics and epigenetic pathways of disease [NCMLS 6], DNA Mutational Analysis, Germline mosaicism, Choanal atresia, medicine.disease_cause, CHARGE syndrome, Central Nervous System Diseases, Perception and Action [DCN 1], Heart, lung and circulation [UMCN 2.1], Child, Genetics (clinical), Genetics, Coloboma, Mutation, Cardiovascular diseases [NCEBP 14], medicine.diagnostic_test, Functional imaging [IGMD 1], Central Nervous System Diseases/diagnosis, syndrome, Major gene, Hypoplasia, DNA-Binding Proteins, Phenotype, Vestibular Diseases, Spinal Diseases, Original Article, Female, Spinal Diseases/diagnosis, Functional Neurogenomics [DCN 2], Heart Defects, Congenital, Adult, Abnormalities, Multiple/diagnosis, Adolescent, Child, preschool, Choanal Atresia/diagnosis, Coloboma/diagnosis, Vestibular Diseases/diagnosis, Gestational Age, Biology, Choanal Atresia, Genomic disorders and inherited multi-system disorders [IGMD 3], Translational research [ONCOL 3], otorhinolaryngologic diseases, medicine, Humans, Abnormalities, Multiple, Genetic Testing, Mouth Diseases/diagnosis, Genetic testing, Hereditary cancer and cancer-related syndromes [ONCOL 1], DNA Helicases/genetics, DNA Helicases, Infant, Newborn, Infant, medicine.disease, Genetic defects of metabolism [UMCN 5.1], Heart Defects, Congenital/diagnosis, mutation, Mouth Diseases, DNA-Binding Proteins/genetics

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e1fa8fcdb77f66933f35bb3288d610fTest
https://doi.org/10.1136/jmg.2005.036061Test

المؤلفون: Erik A. Sistermans, Willy M. Nillesen, C G de Kovel, Sascha Vermeer, M Kets, M H A Versteeg, Dominique Smeets, Gerard Merkx, Nine V A M Knoers, Han G. Brunner, B. B. A. De Vries, David A. Koolen, C M A van Ravenswaaij

المساهمون: Human genetics, Amsterdam Reproduction & Development (AR&D)

المصدر: Journal of Medical Genetics, 41, 12, pp. 892-9
Journal of Medical Genetics, 41(12), 892-899. BMJ Publishing Group
Koolen, D A, Nillesen, W M, Versteeg, M H A, Merkx, G F M, Knoers, N V A M, Kets, M, Vermeer, S, Van Ravenswaaij, C M A, De Kovel, C G, Brunner, H G, Smeets, D, De Vries, B B A & Sistermans, E A 2004, ' Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA) ', Journal of Medical Genetics, vol. 41, no. 12, pp. 892-899 . https://doi.org/10.1136/jmg.2004.023671Test
Journal of Medical Genetics, 41, 892-9

مصطلحات موضوعية: Male, Molecular Probe Techniques, Biology, Gene Duplication, Intellectual Disability, Gene duplication, Genetics, medicine, Humans, Clinical significance, Genetic Testing, Multiplex ligation-dependent probe amplification, Child, In Situ Hybridization, Fluorescence, Genetics (clinical), Molecular diagnosis, prognosis and monitoring [UMCN 1.2], Genetic testing, Gene Rearrangement, medicine.diagnostic_test, Infant, Gene rearrangement, Telomere, medicine.disease, Subtelomere, Developmental disorder, Child, Preschool, dup, Original Article, Female, Gene Deletion

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c2fc120befa75d2fcb4a212beab2dcbfTest
https://doi.org/10.1136/jmg.2004.023671Test