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1دورية أكاديمية
المؤلفون: Sarri, C., Douzgou, S., Gyftodimou, Y., Tümer, Z., Ravn, K., Pasparaki, A., Sarafidou, T., Kontos, H., Kokotas, H., Karadima, G., Grigoriadou, M., Pandelia, E., Theodorou, V., Moschonas, N. K., Petersen, M. B.
مصطلحات موضوعية: Array CGH, Behavioral anomalies, Chromosome 10, Deletion, Duplication, Non-acrocentric satellited chromosomes, Phychomotor delay, RNA 28S, acrocentric chromosome, adolescent, article, case report, centromere, chromosome 10q, chromosome arm, chromosome banding pattern, chromosome deletion, chromosome duplication, chromosome rearrangement, chromosome satellite, chromosome translocation, clinical evaluation, clinical feature, comparative genomic hybridization, developmental disorder, female, fluorescence in situ hybridization, follow up, human, intellectual impairment
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2دورية أكاديمية
المؤلفون: Buysse, K, Crepel, An, Menten, B, Pattyn, F, Antonacci, F, Veltman, J A, Larsen, L A, Tümer, Z, de Klein, A, van de Laar, I, Devriendt, Koenraad, Mortier, G, Speleman, F
مصطلحات موضوعية: Chromosome Breakage, Chromosome Mapping, Chromosomes, Human, Pair 5, Gene Deletion, Gene Duplication, Genomic Instability, Humans, Translocation, Genetic
العلاقة: Journal of Medical Genetics vol:45 issue:10 pages:672-678; https://lirias.kuleuven.be/handle/123456789/235924Test; http://jmg.bmj.com/cgi/pmidlookup?view=long&pmid=18628311Test
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3دورية أكاديمية
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 -
4دورية أكاديمية
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
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5دورية أكاديمية
المؤلفون: Dlugaszewska, B, Silahtaroglu, A, Menzel, C, Kübart, S, Cohen, Malene, Mundlos, S, Tümer, Z, Kjær, Klaus Wilbrandt, Friedrich, U, Ropers, H-H, Tommerup, N, Neitzel, H, Kalscheuer, V M
المصدر: Dlugaszewska , B , Silahtaroglu , A , Menzel , C , Kübart , S , Cohen , M , Mundlos , S , Tümer , Z , Kjær , K W , Friedrich , U , Ropers , H-H , Tommerup , N , Neitzel , H & Kalscheuer , V M 2006 , ' Breakpoints around the HOXD cluster result in various limb malformations ' , Journal of Medical Genetics , vol. 43 , no. 2 , pp. 111-118 . https://doi.org/10.1136/jmg.2005.033555Test
مصطلحات موضوعية: Adolescent, Adult, Chromosome Breakage, Chromosome Mapping, Chromosomes, Human, Pair 2, Computational Biology, Female, Homeodomain Proteins, Humans, In Situ Hybridization, Fluorescence, Infant, Newborn, Karyotyping, Limb Deformities, Congenital, Male, Multigene Family, Mutation, Transcription Factors
الإتاحة: https://doi.org/10.1136/jmg.2005.033555Test
https://curis.ku.dk/portal/da/publications/breakpoints-around-the-hoxd-cluster-result-in-various-limb-malformationsTest(d5d6ec90-70eb-11dc-bee9-02004c4f4f50).html
