المؤلفون: van Bon, B W M, Mefford, H C, Menten, B, Koolen, D A, Sharp, A J, Nillesen, W M, Innis, J W, de Ravel de l'Argentière, Thomy, Mercer, C L, Fichera, M, Stewart, H, Connell, L E, Ounap, K, Lachlan, K, Castle, B, Van der Aa, N, van Ravenswaaij, C, Nobrega, M A, Serra-Juhé, C, Simonic, I, de Leeuw, N, Pfundt, R, Bongers, E M, Baker, C, Finnemore, P, Huang, S, Maloney, V K, Crolla, J A, van Kalmthout, M, Elia, M, Vandeweyer, G, Fryns, Jean-Pierre, Janssens, S, Foulds, N, Reitano, S, Smith, K, Parkel, S, Loeys, B, Woods, C G, Oostra, A, Speleman, F, Pereira, A C, Kurg, A, Willatt, L, Knight, S J L, Vermeesch, Joris, Romano, C, Barber, J C, Mortier, G, Pérez-Jurado, L A, Kooy, F, Brunner, H G, Eichler, E E, Kleefstra, T, de Vries, B B A

مصطلحات موضوعية: Adolescent, Adult, Child, Preschool, Chromosome Aberrations, Chromosome Deletion, Chromosome Disorders, Chromosomes, Human, Pair 15, Female, Gene Duplication, Humans, Infant, Newborn, Male, Mental Retardation, Oligonucleotide Array Sequence Analysis, Pedigree, Pregnancy, Syndrome

العلاقة: Journal of Medical Genetics vol:46 issue:8 pages:511-523; https://lirias.kuleuven.be/handle/123456789/270656Test; http://jmg.bmj.com/cgi/pmidlookup?view=long&pmid=19372089Test; https://lirias.kuleuven.be/bitstream/123456789/270656/3//van+Bon.pdfTest

الإتاحة: https://lirias.kuleuven.be/handle/123456789/270656Test
http://jmg.bmj.com/cgi/pmidlookup?view=long&pmid=19372089Test
https://lirias.kuleuven.be/bitstream/123456789/270656/3//van+Bon.pdfTest

المؤلفون: Lugtenberg, D, de Brouwer, A P M, Kleefstra, T, Oudakker, A R, Frints, Suzanna, Schrander-Stumpel, C T R M, Fryns, Jean-Pierre, Jensen, L R, Chelly, J, Moraine, C, Turner, G, Veltman, J A, Hamel, B C J, de Vries, B B A, van Bokhoven, H, Yntema, H G

مصطلحات موضوعية: Chromosome Aberrations, Female, Genome, Human, Haplotypes, Humans, Male, Mental Retardation, X-Linked, Oligonucleotide Array Sequence Analysis, Polymorphism, Genetic, Research Support, Non-U.S. Gov't, Sensitivity and Specificity

العلاقة: Journal of Medical Genetics vol:43 issue:4 pages:362-370; https://lirias.kuleuven.be/handle/123456789/8210Test; http://jmg.bmjjournals.com/cgi/pmidlookup?view=long&pmid=16169931Test

الإتاحة: https://lirias.kuleuven.be/handle/123456789/8210Test
http://jmg.bmjjournals.com/cgi/pmidlookup?view=long&pmid=16169931Test

المؤلفون: Kleefstra, T, Smidt, M, Banning, M J G, Oudakker, A R, Van Esch, Hilde, de Brouwer, A P M, Nillesen, W, Sistermans, E A, Hamel, B C J, de Bruijn, D, Fryns, Jean-Pierre, Yntema, H G, Brunner, H G, de Vries, B B A, van Bokhoven, H

مصطلحات موضوعية: Abnormalities, Multiple, Animals, Chromosome Deletion, Chromosomes, Human, Pair 9, Expressed Sequence Tags, Female, Humans, Mental Retardation, Methyltransferases, Mice, Phenotype, Research Support, Non-U.S. Gov't, Syndrome, Telomere, Translocation, Genetic

العلاقة: Journal of Medical Genetics vol:42 issue:4 pages:299-306; https://lirias.kuleuven.be/handle/123456789/7724Test; http://jmg.bmjjournals.com/cgi/pmidlookup?view=long&pmid=15805155Test

الإتاحة: https://lirias.kuleuven.be/handle/123456789/7724Test
http://jmg.bmjjournals.com/cgi/pmidlookup?view=long&pmid=15805155Test

المؤلفون: Mefford, H. C., Sharp, A. J., Baker, C., Itsara, A., Jiang, Z., Buysse, K., Huang, S., Maloney, V. K., Crolla, J. A., Baralle, D., Collins, A., Mercer, C., Norga, K., de Ravel, T., Devriendt, K., Bongers, E. M., de Leeuw, N., Reardon, W., Gimelli, S., Bena, F., Hennekam, R. C., Male, A., Gaunt, L., Clayton-Smith, J., Simonic, I., Park, S. M., Mehta, S. G., Nik-Zainal, S., Woods, C. G., Firth, H. V., Parkin, G., Fichera, M., Reitano, S., Lo Giudice, M., Li, K. E., Casuga, I., Broomer, A., Conrad, B., Schwerzmann, M., Raber, L., Gallati, S., Striano, P., Coppola, A., Tolmie, J. L., Tobias, E. S., Lilley, C., Armengol, L., Spysschaert, Y., Verloo, P., De Coene, A., Goossens, L., Mortier, G., Speleman, F., van Binsbergen, E., Nelen, M. R., Hochstenbach, R., Poot, M., Gallagher, L., Gill, M., McClellan, J., King, M. C., Regan, R., Skinner, C., Stevenson, R. E., Antonarakis, S. E., Chen, C., Estivill, X., Menten, B., Gimelli, G., Gribble, S., Schwartz, S., Sutcliffe, J. S., Walsh, T., Knight, S. J., Sebat, J., Romano, C., Schwartz, C. E., Veltman, J. A., de Vries, B. B., Vermeesch, J. R., Barber, J. C., Willatt, L., Tassabehji, M., Eichler, E. E.

مصطلحات موضوعية: bioinformatics, congenital hereditary genetic diseases, diseases & disorders, genetics & nucleic acid processing, genomics and proteomics, mental disorders, genomes, mental retardation

وصف الملف: application/pdf

العلاقة: http://repository.cshl.edu/id/eprint/27603/1/Sebat%20NEJM%202008.pdfTest; Mefford, H. C., Sharp, A. J., Baker, C., Itsara, A., Jiang, Z., Buysse, K., Huang, S., Maloney, V. K., Crolla, J. A., Baralle, D., Collins, A., Mercer, C., Norga, K., de Ravel, T., Devriendt, K., Bongers, E. M., de Leeuw, N., Reardon, W., Gimelli, S., Bena, F., Hennekam, R. C., Male, A., Gaunt, L., Clayton-Smith, J., Simonic, I., Park, S. M., Mehta, S. G., Nik-Zainal, S., Woods, C. G., Firth, H. V., Parkin, G., Fichera, M., Reitano, S., Lo Giudice, M., Li, K. E., Casuga, I., Broomer, A., Conrad, B., Schwerzmann, M., Raber, L., Gallati, S., Striano, P., Coppola, A., Tolmie, J. L., Tobias, E. S., Lilley, C., Armengol, L., Spysschaert, Y., Verloo, P., De Coene, A., Goossens, L., Mortier, G., Speleman, F., van Binsbergen, E., Nelen, M. R., Hochstenbach, R., Poot, M., Gallagher, L., Gill, M., McClellan, J., King, M. C., Regan, R., Skinner, C., Stevenson, R. E., Antonarakis, S. E., Chen, C., Estivill, X., Menten, B., Gimelli, G., Gribble, S., Schwartz, S., Sutcliffe, J. S., Walsh, T., Knight, S. J., Sebat, J., Romano, C., Schwartz, C. E., Veltman, J. A., de Vries, B. B., Vermeesch, J. R., Barber, J. C., Willatt, L., Tassabehji, M., Eichler, E. E. (October 2008) Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. New England Journal of Medicine , 359 (16). pp. 1685-99.

الإتاحة: https://doi.org/10.1056/NEJMoa0805384Test
http://repository.cshl.edu/id/eprint/27603Test/
http://repository.cshl.edu/id/eprint/27603/1/Sebat%20NEJM%202008.pdfTest
http://www.ncbi.nlm.nih.gov/pubmed/18784092Test

المؤلفون: de Vries, B B, Wiegers, A M, Smits, A P, Mohkamsing, S, Duivenvoorden, H J, Fryns, Jean-Pierre, Curfs, L M, Halley, D J, Oostra, B A, van den Ouweland, A M, Niermeijer, M F

مصطلحات موضوعية: Adult, Aged, DNA, Female, Fragile X Syndrome, Humans, Male, Mental Retardation, Mental Status Schedule, Middle Aged, Models, Genetic, Mutation

العلاقة: American Journal of Human Genetics vol:58 issue:5 pages:1025-32; https://lirias.kuleuven.be/handle/123456789/276296Test

الإتاحة: https://lirias.kuleuven.be/handle/123456789/276296Test

المؤلفون: Ruiter, E. M., Koolen, D. A., Kleefstra, T., Nillesen, W. M., Pfundt, R., de Leeuw, N., Hamel, B. C. J., Brunner, H. G., Sistermans, E. A., de Vries, B. B. A.

المصدر: Clinical Genetics; Oct2007, Vol. 72 Issue 4, p362-368, 7p, 2 Black and White Photographs, 2 Charts, 1 Graph

مصطلحات موضوعية: INTELLECTUAL disabilities, DEVELOPMENTAL disabilities, IN situ hybridization, PEOPLE with intellectual disabilities, PATHOLOGICAL psychology, FLUORESCENCE microscopy, FLUORESCENCE in situ hybridization