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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. 306-14مصطلحات 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 -
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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, 892-9مصطلحات 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 -
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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, 511-23مصطلحات 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 -
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المؤلفون: Nine V A M Knoers, E.N. Levtchenko, Jos M. T. Draaisma, Willy O. Renier, C. M. A. van Ravenswaaij, T.A.J. Antonius
المصدر: European Journal of Pediatrics, 167, 7, pp. 807-10
European Journal of Pediatrics
European Journal of Pediatrics, 167(7), 807-810. SPRINGER
European Journal of Pediatrics, 167, 807-10مصطلحات موضوعية: Specific growth, Male, Microcephaly, Pediatrics, medicine.medical_specialty, Health aging / healthy living [IGMD 5], Body height, Birth weight, growth, Membrane transport and intracellular motility [NCMLS 5], Medical Records, Genomic disorders and inherited multi-system disorders [IGMD 3], Sex Factors, wolf-hirschhorn, Sex factors, medicine, Birth Weight, Humans, Multicenter Studies as Topic, Pediatrics, Perinatology, and Child Health, growth charts, Wolf–Hirschhorn syndrome, WHS, Renal disorder [IGMD 9], Original Paper, business.industry, Wolf-Hirschhorn Syndrome, Medical record, Body Weight, Infant, Newborn, Wolf-Hirschhorn, Infant, Nutrition and Health [UMCN 5.5], medicine.disease, Body Height, Chromosome 4, Genetic defects of metabolism [UMCN 5.1], Child, Preschool, Pediatrics, Perinatology and Child Health, Female, business, whs, Functional Neurogenomics [DCN 2]
وصف الملف: Print-Electronic; application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e707d21395d43107c416375c977ad09eTest
https://lirias.kuleuven.be/handle/123456789/653717Test -
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المصدر: Feenstra, I, Van Ravenswaaij, C M A, Van Der Knaap, M S & Willemsen, M A A P 2006, ' Neuroimaging in nine patients with inversion duplication of the short arm of chromosome 8 ', Neuropediatrics, vol. 37, no. 2, pp. 83-87 . https://doi.org/10.1055/s-2006-924108Test
Neuropediatrics, 37, 83-7
Neuropediatrics, 37, 2, pp. 83-7مصطلحات موضوعية: Male, Adolescent, Chromosome Disorder, Ventricular system, Corpus callosum, Central nervous system disease, Maldevelopment, Intellectual Disability, medicine, Humans, Child, Brain Diseases, Corpus Callosum Agenesis, business.industry, Brain, Infant, General Medicine, Anatomy, medicine.disease, Magnetic Resonance Imaging, Hypoplasia, Neuromuscular development and genetic disorders [UMCN 3.1], Genetic defects of metabolism [UMCN 5.1], Child, Preschool, Pediatrics, Perinatology and Child Health, Chromosome Inversion, Cerebellar vermis, Female, Neurology (clinical), business, Tomography, X-Ray Computed, Chromosomes, Human, Pair 8
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c407f0ef90024846c924d2426dbfd814Test
https://research.vumc.nl/en/publications/45c88a02-78fa-4555-9c55-86796157a9eaTest -
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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. 18-23مصطلحات 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