المؤلفون: Møller, R S, Jensen, L R, Maas, S M, Filmus, J, Capurro, M, Hansen, Claus, Marcelis, C L M, Ravn, K, Andrieux, J, Mathieu, M, Kirchhoff, M, Rødningen, O K, de Leeuw, N, Yntema, H G, Froyen, G, Vandewalle, J, Ballon, K, Klopocki, E, Joss, S, Tolmie, J, Knegt, A C, Lund, A M, Hjalgrim, H, Kuss, A W, Tommerup, N, Ullmann, R, de Brouwer, A P M, Strømme, P, Kjaergaard, S, Tümer, Z, Kleefstra, T

المصدر: Møller , R S , Jensen , L R , Maas , S M , Filmus , J , Capurro , M , Hansen , C , Marcelis , C L M , Ravn , K , Andrieux , J , Mathieu , M , Kirchhoff , M , Rødningen , O K , de Leeuw , N , Yntema , H G , Froyen , G , Vandewalle , J , Ballon , K , Klopocki , E , Joss , S , Tolmie , J , Knegt , A C , Lund , A M , Hjalgrim ....

مصطلحات موضوعية: Abnormalities, Multiple, Adult, Animals, Blepharoptosis, Body Height, Child, Chromosome Duplication, Cleft Palate, Female, Fingers, Genetic Diseases, X-Linked, Humans, Intellectual Disability, Karyotyping, Male, Mice, Transgenic, Microcephaly, Syndrome

الإتاحة: https://doi.org/10.1007/s00439-013-1403-3Test
https://curis.ku.dk/portal/da/publications/xlinked-congenital-ptosis-and-associated-intellectual-disability-short-stature-microcephaly-cleft-palate-digital-and-genital-abnormalities-define-novel-xq25q26-duplication-syndromeTest(fa67de5c-3b54-44db-ae23-7c7bdeb5d75c).html
http://download.springer.com/static/pdf/998/art%253A10.1007%252Fs00439-013-1403-3.pdf?auth66=1406711234_710d6259d6ba2d1d9b752d059840b3f2&ext=.pdfTest

المؤلفون: Kaalund, S S, Møller, R S, Tészás, A, Miranda, M, Kosztolanyi, G, Ullmann, R, Tommerup, N, Tümer, Z

المصدر: Kaalund , S S , Møller , R S , Tészás , A , Miranda , M , Kosztolanyi , G , Ullmann , R , Tommerup , N & Tümer , Z 2008 , ' Investigation of 4q-deletion in two unrelated patients using array CGH ' , American Journal of Medical Genetics Part A , vol. 146A , no. 18 , pp. 2431-2434 . https://doi.org/10.1002/ajmg.a.32458Test

مصطلحات موضوعية: Abnormalities, Multiple, Child, Preschool, Chromosome Banding, Chromosome Deletion, Chromosomes, Human, Pair 20, Pair 4, Developmental Disabilities, Female, Gene Duplication, Humans, Male, Oligonucleotide Array Sequence Analysis, Syndrome

العلاقة: https://portal.findresearcher.sdu.dk/da/publications/8f066510-f406-43a9-b2fa-162dffc21d48Test

الإتاحة: https://doi.org/10.1002/ajmg.a.32458Test
https://portal.findresearcher.sdu.dk/da/publications/8f066510-f406-43a9-b2fa-162dffc21d48Test

المؤلفون: Engenheiro, E, Møller, R S, Pinto, M, Soares, G, Nikanorova, M, Carreira, I M, Ullmann, R, Tommerup, N, Tümer, Z

المصدر: Engenheiro , E , Møller , R S , Pinto , M , Soares , G , Nikanorova , M , Carreira , I M , Ullmann , R , Tommerup , N & Tümer , Z 2008 , ' Mowat-Wilson syndrome : an underdiagnosed syndrome? ' , Clinical Genetics , vol. 73 , no. 6 , pp. 579-584 . https://doi.org/10.1111/j.1399-0004.2008.00997.xTest

مصطلحات موضوعية: Abnormalities, Multiple, Chromosome Breakage, Cytogenetic Analysis, Female, Homeodomain Proteins, Humans, Infant, Newborn, Intellectual Disability, Repressor Proteins, Syndrome

العلاقة: https://portal.findresearcher.sdu.dk/da/publications/f45bfd77-31ad-4656-8a91-cad1d571bbb7Test

الإتاحة: https://doi.org/10.1111/j.1399-0004.2008.00997.xTest
https://portal.findresearcher.sdu.dk/da/publications/f45bfd77-31ad-4656-8a91-cad1d571bbb7Test

المؤلفون: Cingoz, S, Bisgaard, A M, Bache, I, Bryndorf, T, Kirchoff, M, Petersen, W, Ropers, H-H, Maas, Nicole, Van Buggenhout, Griet, Tommerup, N, Tümer, Z

مصطلحات موضوعية: Abnormalities, Multiple, Adolescent, Adult, Chromosomes, Human, Pair 10, Pair 4, Female, Humans, Immunologic Deficiency Syndromes, In Situ Hybridization, Fluorescence, Mental Retardation, Pedigree, Phenotype, Translocation, Genetic

العلاقة: American Journal of Medical Genetics A vol:140 issue:20 pages:2231-5; https://lirias.kuleuven.be/handle/123456789/244982Test

الإتاحة: https://lirias.kuleuven.be/handle/123456789/244982Test