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1دورية أكاديمية
المؤلفون: Bayat, A, Kløvgaard, M, Johannesen, KM, Barakat, Stefan, Kievit, Anneke, Montomoli, M, Parrini, E, Pietrafusa, N, Schelhaas, J, van Slegtenhorst, Marjon, Miya, K, Guerrini, R, Tranebjærg, L, Tümer, Z, Rubboli, G, Møller, RS
المصدر: Bayat , A , Kløvgaard , M , Johannesen , KM , Barakat , S , Kievit , A , Montomoli , M , Parrini , E , Pietrafusa , N , Schelhaas , J , van Slegtenhorst , M , Miya , K , Guerrini , R , Tranebjærg , L , Tümer , Z , Rubboli , G & Møller , RS 2021 , ' Deciphering the premature mortality in PIGA-CDG – An untold story ' , Epilepsy Research , vol. 170 , 106530 . https://doi.org/10.1016/j.eplepsyres.2020.106530Test
مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCOR01, name=EMC OR-01, /dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being, name=SDG 3 - Good Health and Well-being
الإتاحة: https://doi.org/10.1016/j.eplepsyres.2020.106530Test
https://pure.eur.nl/en/publications/687ae827-746d-489d-849b-2a75a89aecffTest
http://www.scopus.com/inward/record.url?scp=85099969537&partnerID=8YFLogxKTest
https://findresearcher.sdu.dk/ws/files/181483403/PIGA.pdfTest -
2دورية أكاديمية
المؤلفون: Forde, N., Kanaan, A.S., Widomska, J., Padmanabhuni, S.S., Nespoli, E., Alexander, J., Rodriguez Arranz, J.J., Fan, S., Houssari, R., Nawaz, M.S., Rizzo, F., Pagliaroli, L., Rodrigues Zilhao Nogueira, N., Aranyi, T., Barta, C., Boeckers, T.M., Boomsma, D.I., Buisman, W.R., Buitelaar, J.K., Cath, D.C., Dietrich, A., Driessen, N., Drineas, P., Dunlap, M., Gerasch, S., Glennon, J., Hengerer, B., van den Heuvel, O.A., Jespersgaard, C., Möller, H.E., Müller-Vahl, K.R., Openneer, T.J.C., Poelmans, G., Pouwels, P.J.W., Scharf, J.M., Stefansson, H., Tümer, Z., Veltman, D.J., van der Werf, Y.D., Hoekstra, P.J., Ludolph, A., Paschou, P.
المصدر: Forde , N , Kanaan , A S , Widomska , J , Padmanabhuni , S S , Nespoli , E , Alexander , J , Rodriguez Arranz , J J , Fan , S , Houssari , R , Nawaz , M S , Rizzo , F , Pagliaroli , L , Rodrigues Zilhao Nogueira , N , Aranyi , T , Barta , C , Boeckers , T M , Boomsma , D I , Buisman , W R , Buitelaar , J K , Cath , D C , Dietrich , A , Driessen , N ....
مصطلحات موضوعية: /dk/atira/pure/keywords/cohort_studies/netherlands_twin_register_ntr_, name=Netherlands Twin Register (NTR), /dk/atira/pure/sustainabledevelopmentgoals/partnerships, name=SDG 17 - Partnerships for the Goals
الإتاحة: https://doi.org/10.3389/fnins.2016.00384Test
https://research.vu.nl/en/publications/4e724b2d-7778-4cad-b299-a91e5214fbcfTest
https://hdl.handle.net/1871.1/4e724b2d-7778-4cad-b299-a91e5214fbcfTest -
3دورية أكاديمية
المؤلفون: Forde, N., Kanaan, A.S., Widomska, J., Padmanabhuni, S.S., Nespoli, E., Alexander, J., Rodriguez Arranz, J.J., Fan, S., Houssari, R., Nawaz, M.S., Rizzo, F., Pagliaroli, L., Rodrigues Zilhao Nogueira, N., Aranyi, T., Barta, C., Boeckers, T.M., Boomsma, D.I., Buisman, W.R., Buitelaar, J.K., Cath, D.C., Dietrich, A., Driessen, N., Drineas, P., Dunlap, M., Gerasch, S., Glennon, J., Hengerer, B., van den Heuvel, O.A., Jespersgaard, C., Möller, H.E., Müller-Vahl, K.R., Openneer, T.J.C., Poelmans, G., Pouwels, P.J.W., Scharf, J.M., Stefansson, H., Tümer, Z., Veltman, D.J., van der Werf, Y.D., Hoekstra, P.J., Ludolph, A., Paschou, P.
المصدر: Forde , N , Kanaan , A S , Widomska , J , Padmanabhuni , S S , Nespoli , E , Alexander , J , Rodriguez Arranz , J J , Fan , S , Houssari , R , Nawaz , M S , Rizzo , F , Pagliaroli , L , Rodrigues Zilhao Nogueira , N , Aranyi , T , Barta , C , Boeckers , T M , Boomsma , D I , Buisman , W R , Buitelaar , J K , Cath , D C , Dietrich , A , Driessen , N ....
مصطلحات موضوعية: /dk/atira/pure/keywords/cohort_studies/netherlands_twin_register_ntr_, name=Netherlands Twin Register (NTR), /dk/atira/pure/sustainabledevelopmentgoals/partnerships, name=SDG 17 - Partnerships for the Goals
الإتاحة: https://doi.org/10.3389/fnins.2016.00384Test
https://research.vu.nl/en/publications/4e724b2d-7778-4cad-b299-a91e5214fbcfTest
https://hdl.handle.net/1871.1/4e724b2d-7778-4cad-b299-a91e5214fbcfTest -
4دورية أكاديمية
المؤلفون: Bayat, A, Kløvgaard, M, Johannesen, KM, Barakat, Stefan, Kievit, Anneke, Montomoli, M, Parrini, E, Pietrafusa, N, Schelhaas, J, van Slegtenhorst, Marjon, Miya, K, Guerrini, R, Tranebjærg, L, Tümer, Z, Rubboli, G, Møller, RS
المصدر: Bayat , A , Kløvgaard , M , Johannesen , KM , Barakat , S , Kievit , A , Montomoli , M , Parrini , E , Pietrafusa , N , Schelhaas , J , van Slegtenhorst , M , Miya , K , Guerrini , R , Tranebjærg , L , Tümer , Z , Rubboli , G & Møller , RS 2021 , ' Deciphering the premature mortality in PIGA-CDG – An untold story ' , Epilepsy Research , vol. 170 , 106530 . https://doi.org/10.1016/j.eplepsyres.2020.106530Test
مصطلحات موضوعية: /dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being, SDG 3 - Good Health and Well-being
الإتاحة: https://doi.org/10.1016/j.eplepsyres.2020.106530Test
https://pure.eur.nl/en/publications/687ae827-746d-489d-849b-2a75a89aecffTest -
5دورية أكاديمية
المؤلفون: Tümer, Z, Petris, M, Zhu, S, Mercer, J, Bukrinski, J, Bilz, S, Baerlocher, K, Horn, N, Møller, L B
المصدر: Tümer , Z , Petris , M , Zhu , S , Mercer , J , Bukrinski , J , Bilz , S , Baerlocher , K , Horn , N & Møller , L B 2017 , ' A 37-year-old Menkes disease patient : Residual ATP7A activity and early copper administration as key factors in beneficial treatment ' , Clinical Genetics , vol. 92 , no. 5 , pp. 548-553 . https://doi.org/10.1111/cge.13083Test
الإتاحة: https://doi.org/10.1111/cge.13083Test
https://curis.ku.dk/portal/da/publications/a-37yearold-menkes-disease-patientTest(94ec63fe-13a0-4f42-968d-7072e2bf5d30).html -
6دورية أكاديمية
المؤلفون: Soellner, L, Begemann, M, Mackay, D J G, Grønskov, K, Tümer, Z, Maher, E R, Temple, I K, Monk, D, Riccio, A, Linglart, A, Netchine, I, Eggermann, T
المصدر: Soellner , L , Begemann , M , Mackay , D J G , Grønskov , K , Tümer , Z , Maher , E R , Temple , I K , Monk , D , Riccio , A , Linglart , A , Netchine , I & Eggermann , T 2017 , ' Recent Advances in Imprinting Disorders ' , Clinical Genetics , vol. 91 , no. 1 , pp. 3-13 . https://doi.org/10.1111/cge.12827Test
مصطلحات موضوعية: DNA Copy Number Variations/genetics, Epigenesis, Genetic, Genetic Counseling, Genetic Diseases, Inborn/diagnosis, Genetic Loci/genetics, Genetic Testing/methods, Genomic Imprinting, Humans, Mutation, Uniparental Disomy/genetics
الإتاحة: https://doi.org/10.1111/cge.12827Test
https://curis.ku.dk/portal/da/publications/recent-advances-in-imprinting-disordersTest(762e349a-693a-4abc-97af-87a1963c489c).html -
7دورية أكاديمية
المؤلفون: Boyle, M I, Jespersgaard, C, Nazaryan, L, Bisgaard, A-M, Tümer, Z
المصدر: Boyle , M I , Jespersgaard , C , Nazaryan , L , Bisgaard , A-M & Tümer , Z 2017 , ' A novel RAD21 variant associated with intrafamilial phenotypic variation in Cornelia de Lange syndrome ' , Clinical Genetics , vol. 91 , no. 4 , pp. 647-649 . https://doi.org/10.1111/cge.12863Test
مصطلحات موضوعية: Adult, Codon, Nonsense/genetics, De Lange Syndrome/diagnosis, Female, Humans, Nuclear Proteins/genetics, Penetrance, Phosphoproteins/genetics, Polymorphism, Single Nucleotide, Sequence Deletion/genetics
الإتاحة: https://doi.org/10.1111/cge.12863Test
https://curis.ku.dk/portal/da/publications/a-novel-rad21-variant-associated-with-intrafamilial-phenotypic-variation-in-cornelia-de-lange-syndromeTest(269e5944-cd34-4e2a-a4cf-7d39fecdf81f).html -
8دورية أكاديمية
المؤلفون: Boyle, M I, Jespersgaard, C, Brøndum-Nielsen, K, Bisgaard, A-M, Tümer, Z
المصدر: Boyle , M I , Jespersgaard , C , Brøndum-Nielsen , K , Bisgaard , A-M & Tümer , Z 2015 , ' Cornelia de Lange syndrome ' , Clinical Genetics , vol. 88 , no. 1 , 12499 , pp. 1-12 . https://doi.org/10.1111/cge.12499Test
مصطلحات موضوعية: Cell Cycle Proteins, Child, Preschool, Chondroitin Sulfate Proteoglycans, Chromosomal Proteins, Non-Histone, De Lange Syndrome, Female, Histone Deacetylases, Humans, Male, Mutation, Nuclear Proteins, Phenotype, Phosphoproteins, Proteins, Repressor Proteins
الإتاحة: https://doi.org/10.1111/cge.12499Test
https://curis.ku.dk/portal/da/publications/cornelia-de-lange-syndromeTest(d73beda7-39f8-479f-8593-df8f704f20f2).html -
9دورية أكاديمية
المؤلفون: Zink, A M, Wohlleber, E, Engels, H, Rødningen, O K, Ravn, K, Heilmann, S, Rehnitz, J, Katzorke, N, Kraus, C, Blichfeldt, S, Hoffmann, P, Reutter, H, Brockschmidt, F F, Kreiß-Nachtsheim, M, Vogt, P H, Prescott, T E, Tümer, Z, Lee, J A
المصدر: Zink , A M , Wohlleber , E , Engels , H , Rødningen , O K , Ravn , K , Heilmann , S , Rehnitz , J , Katzorke , N , Kraus , C , Blichfeldt , S , Hoffmann , P , Reutter , H , Brockschmidt , F F , Kreiß-Nachtsheim , M , Vogt , P H , Prescott , T E , Tümer , Z & Lee , J A 2014 , ' Microdeletions including FMR1 in three female patients with intellectual disability - further delineation of the phenotype and expression studies ....
الإتاحة: https://doi.org/10.1159/000357962Test
https://curis.ku.dk/portal/da/publications/microdeletions-including-fmr1-in-three-female-patients-with-intellectual-disability--further-delineation-of-the-phenotype-and-expression-studiesTest(248860fd-bd08-471b-af01-99b91daae5ae).html -
10دورية أكاديمية
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
