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1دورية أكاديمية
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 -
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المؤلفون: Hilhorst-Hofstee, Y., Tümer, Z., Born, P., Knijnenbrug, J., Hansson, K, Yatawara, V., Steensberg, J., Ullmann, R., Arkesteijn, G., Tommerup, N., Larsen, L.A., Dep Infectieziekten Immunologie
المساهمون: Dep Infectieziekten Immunologie
المصدر: American Journal of Medical Genetics. Part A.. Wiley-Liss Inc.
مصطلحات موضوعية: Heart Defects, Congenital, Male, Infant, Newborn, Infant, Biology, Physical Chromosome Mapping, Molecular biology, Child, Preschool, Genetics, Humans, Chromosome Deletion, Chromosomes, Human, Pair 4, Child, Genetics (clinical)
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5fcab0a054a18890a18bd60949db93bdTest
https://dspace.library.uu.nl/handle/1874/284249Test -
3دورية 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 -
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المؤلفون: Tümer Z, Lund C, Tolshave J, Vural B, Tønnesen T, Horn N
المصدر: Europe PubMed Central
مصطلحات موضوعية: Adenosine Triphosphatases, Male, RNA Splicing, Recombinant Fusion Proteins, DNA Mutational Analysis, Infant, Exons, Introns, Mutagenesis, Insertional, Phenotype, Copper-Transporting ATPases, Child, Preschool, Humans, Point Mutation, Carrier Proteins, Frameshift Mutation, Menkes Kinky Hair Syndrome, Cation Transport Proteins, Polymorphism, Single-Stranded Conformational, Research Article, Sequence Deletion
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::f8057aadd68024abef2f045af0dd3cf8Test
https://europepmc.org/articles/PMC1712537Test/