المؤلفون: D. A. Koolen, A. J. Sharp, J. A. Hurst, H. V. Firth, S. J. L, A. Goldenberg, P. Saugier Veber, R. Pfundt, L. E. L, A. Destrée, B. Grisart, L. Rooms, N. V. der, M. Field, A. Hackett, K. Bell, M. J. M, G. M. S, P. J. Poddighe, C. E. Schwartz, E. Rossi, M. D. Gregori, L. L. Antonacci Fulton, M. D. McLellan, J. M. Garrett, M. A. Wiechert, T. L. Miner, S. Crosby, L. Willatt, A. Rauch, M. Zenker, S. Aradhya, M. A. Manning, T. M. Strom, J. Wagenstaller, A. C. Krepischi Santos, A. M. Vianna Morgante, C. Rosenberg, S. M. Price, H. Stewart, C. Shaw Smith, H. G. Brunner, A. O. M, J. A. Veltman, O. Zuffardi, E. E. Eichler, B. B. A., CICCONE, ROBERTO

المساهمون: D. A., Koolen, A. J., Sharp, J. A., Hurst, H. V., Firth, S. J., L., A., Goldenberg, P., Saugier Veber, R., Pfundt, L. E., L., A., Destrée, B., Grisart, L., Room, N. V., Der, M., Field, A., Hackett, K., Bell, M. J. M, G. M. S, P. J., Poddighe, C. E., Schwartz, E., Rossi, M. D., Gregori, L. L., Antonacci Fulton, M. D., Mclellan, J. M., Garrett, M. A., Wiechert, T. L., Miner, S., Crosby, Ciccone, Roberto, L., Willatt, A., Rauch, M., Zenker, S., Aradhya, M. A., Manning, T. M., Strom, J., Wagenstaller, A. C., Krepischi Santo, A. M., Vianna Morgante, C., Rosenberg, S. M., Price, H., Stewart, C., Shaw Smith, H. G., Brunner, A. O., M., J. A., Veltman, O., Zuffardi, E. E., Eichler, B. B., A.

مصطلحات موضوعية: Abnormalitie, Multiple, epidemiology/genetics/physiopathology, Adolescent, Adult, Child, Preschool, Chromosome Deletion, Chromosome Inversion, Chromosome, Human, Pair 17, genetics, Developmental Disabilitie, Face, pathology, Female, Humans, Infant, Male, Muscle Hypotonia, Oligonucleotide Array Sequence Analysis, Polymorphism, Single Nucleotide, Prevalence, Young Adult, tau Proteins

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/18628315; volume:45; firstpage:710; lastpage:720; numberofpages:10; journal:JOURNAL OF MEDICAL GENETICS; http://hdl.handle.net/11571/497466Test; http://dx.doi.org/10.1136/jmg.2008.058701Test

الإتاحة: https://doi.org/10.1136/jmg.2008.058701Test
http://hdl.handle.net/11571/497466Test

المؤلفون: Seth D. Crosby, Lionel Willatt, Elena Rossi, N. Van der Aa, Orsetta Zuffardi, Michael D. McLellan, Ana Cristina Victorino Krepischi-Santos, Lisenka E.L.M. Vissers, H. Stewart, Angela Maria Vianna-Morgante, Michael Field, Susan Price, Jane A. Hurst, Bernard Grisart, Andrew J. Sharp, J. Wagenstaller, Anne Destree, L. L. Antonacci-Fulton, Liesbeth Rooms, Alice Goldenberg, Swaroop Aradhya, Pino J. Poddighe, Evan E. Eichler, B. B. A. de Vries, M. A. Wiechert, Pascale Saugier-Veber, Roberto Ciccone, J. M. Garrett, Andrew O.M. Wilkie, Melanie A. Manning, R. Pfundt, Helen V. Firth, M. De Gregori, Tracie L. Miner, Joris A. Veltman, Samantha J. L. Knight, Martin Zenker, Charles Shaw-Smith, Kathleen Bell, Carla Rosenberg, Han G. Brunner, David A. Koolen, Małgorzata J.M. Nowaczyk, Anna Hackett, Anita Rauch, Grazia M.S. Mancini, C. E. Schwartz, T. M. Strom

المساهمون: Clinical Genetics, Pathology

المصدر: Journal of Medical Genetics, 45, 11, pp. 710-20
Journal of medical genetics
Journal of Medical Genetics, 45, 710-20
Journal of Medical Genetics, 45(11), 710-720. BMJ Publishing Group

مصطلحات موضوعية: Male, Genetics and epigenetic pathways of disease [NCMLS 6], Developmental Disabilities, Medizinische Fakultät, Genomic Segment, Prevalence, Child, Genetics (clinical), Chromosomal inversion, Oligonucleotide Array Sequence Analysis, Genetics, 0303 health sciences, 030305 genetics & heredity, Microdeletion syndrome, Hypotonia, Child, Preschool, Muscle Hypotonia, Female, medicine.symptom, Chromosome Deletion, Functional Neurogenomics [DCN 2], Adult, Adolescent, Koolen De Vries syndrome, tau Proteins, Biology, Polymorphism, Single Nucleotide, Article, Genomic disorders and inherited multi-system disorders [IGMD 3], 03 medical and health sciences, Young Adult, Translational research [ONCOL 3], medicine, Humans, Abnormalities, Multiple, ddc:610, 030304 developmental biology, Breakpoint, Chromosome, Infant, medicine.disease, 17q21.31 microdeletion syndrome, Genetic defects of metabolism [UMCN 5.1], Face, Chromosome Inversion, Human medicine, Chromosomes, Human, Pair 17, Immunity, infection and tissue repair [NCMLS 1]

وصف الملف: pdf; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4cc55679bc8984ef8ec82a122c027f27Test
http://ora.ox.ac.uk/objects/uuid:086504d4-1f86-4092-8ad9-4cdf44f007c2Test