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المؤلفون: Kline, A.D., Moss, J.F., Selicorni, A., Bisgaard, A.M., Deardorff, M.A., Gillett, P.M., Ishman, S.L., Kerr, L.M., Levin, A.V., Mulder, P.A., Ramos, F.J., Wierzba, Jl, Ajmone, P.F., Axtell, D., Blagowidow, N., Cereda, A., Costantino, A., Cormier-Daire, V., FitzPatrick, D., Grados, M., Groves, L., Guthrie, W., Huisman, S., Kaiser, F.J., Koekkoek, G., Levis, M., Mariani, M., McCleery, J.P., Menke, L.A., Metrena, A, O'Connor, J., Oliver, C., Pie, J., Piening, S., Potter, C.J., Quaglio, A.L., Redeker, E., Richman, D., Rigamonti, C., Shi, A., Tümer, Z., Van Balkom, I.D.C., Hennekam, R.C.
المصدر: Zaguán. Repositorio Digital de la Universidad de Zaragoza
instnameوصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::72dda7662033c077666a24fd9297d355Test
http://zaguan.unizar.es/record/75698Test -
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المؤلفون: Verheije, R., Kupchik, G.S., Isidor, B., Kroes, H.Y., Lynch, S.A., Hawkes, L., Hempel, M., Gelb, B.D., Ghoumid, J., D’Amours, G., Chandler, K., Dubourg, C., Loddo, S., Tümer, Z., Shaw-Smith, C., Nizon, M., Shevell, M., Van Hoof, E., Anyane-Yeboa, K., Cerbone, G., Clayton-Smith, J., Cogné, B., Corre, P., Corveleyn, A., De Borre, M., Hjortshøj, T.D., Fradin, M., Gewillig, M., Goldmuntz, E., Hens, G., Lemyre, E., Journel, H., Kini, U., Kortüm, F., Le Caignec, C., Novelli, A., Odent, S., Petit, F., Revah-Politi, A., Stong, N., Strom, T.M., van Binsbergen, E., DDD Study, Devriendt, K., Breckpot, J.
المصدر: Verheije, R, Kupchik, G S, Isidor, B, Kroes, H Y, Lynch, S A, Hawkes, L, Hempel, M, Gelb, B D, Ghoumid, J, D’amours, G, Chandler, K, Dubourg, C, Loddo, S, Tümer, Z, Shaw-smith, C, Nizon, M, Shevell, M, Van Hoof, E, Anyane-yeboa, K, Cerbone, G, Clayton-smith, J, Cogné, B, Corre, P, Corveleyn, A, De Borre, M, Hjortshøj, T D, Fradin, M, Gewillig, M, Goldmuntz, E, Hens, G, Lemyre, E, Journel, H, Kini, U, Kortüm, F, Le Caignec, C, Novelli, A, Odent, S, Petit, F, Revah-politi, A, Stong, N, Strom, T M, Van Binsbergen, E, Devriendt, K & Breckpot, J 2019, ' Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability ', European Journal of Human Genetics, vol. 27, no. 2, pp. 278-290 . https://doi.org/10.1038/s41431-018-0281-5Test
European Journal of Human Genetics, 27(2), 278. Nature Publishing Group
Eur. J. Hum. Genet. 27, 278-290 (2019)مصطلحات موضوعية: Male, Loss of Function Mutation, Intellectual disability, Genetics(clinical), Non-U.S. Gov't, Child, Genetics (clinical), Heart Defects, Genetics, 0303 health sciences, Congenital/genetics, Research Support, Non-U.S. Gov't, 030305 genetics & heredity, Syndrome, Phenotype, Heart Defects, Congenital/genetics, Cleft Palate, Child, Preschool, Female, Haploinsufficiency, Heart Defects, Congenital, Heterozygote, Adolescent, Transcription Factors/genetics, Locus (genetics), Research Support, Article, N.I.H, 03 medical and health sciences, Young Adult, Research Support, N.I.H., Extramural, Cleft Palate/genetics, Intellectual Disability, medicine, Journal Article, Humans, Preschool, Gene, Loss function, Homeodomain Proteins, business.industry, Chromosome, Extramural, Heterozygote advantage, medicine.disease, Intellectual Disability/genetics, Homeodomain Proteins/genetics, business, Transcription Factors
وصف الملف: application/vnd.openxmlformats-officedocument.wordprocessingml.document; text/plain; application/pdf; image/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2579d855b96e7c1ca9b154f65da5fdceTest
https://europepmc.org/articles/PMC6336847Test/ -
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المؤلفون: Soellner, L., Begemann, M., Mackay, D. J. G., Grønskov, K., Tümer, Z., Maher, E. R., Temple, I. K., Monk, D., RICCIO, Andrea, Linglart, A., Netchine, I., Eggermann, T.
المساهمون: Maher, Eamonn [0000-0002-6226-6918], Apollo - University of Cambridge Repository, Soellner, L., Begemann, M., Mackay, D. J. G., Grønskov, K., Tümer, Z., Maher, E. R., Temple, I. K., Monk, D., Riccio, Andrea, Linglart, A., Netchine, I., Eggermann, T.
المصدر: Clinical genetics 91 (2016): 3–13. doi:10.1111/cge.12827
info:cnr-pdr/source/autori:Soellner L, Begemann M, Mackay DJ, Grønskov K, Tümer Z, Maher ER, Temple IK, Monk D, Riccio A, Linglart A, Netchine I, Eggermann T./titolo:Recent Advances in Imprinting Disorders./doi:10.1111%2Fcge.12827/rivista:Clinical genetics/anno:2016/pagina_da:3/pagina_a:13/intervallo_pagine:3–13/volume:91مصطلحات موضوعية: imprinting disorder, Genomic Imprinting, epigenetic regulation, uniparental disomy, DNA Copy Number Variations, Genetic Loci, Mutation, Genetic Diseases, Inborn, Humans, Genetic Counseling, Genetic Testing, Epigenesis, Genetic
وصف الملف: application/pdf; text
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::491f24a99ddfbe37cc59c46f7157108dTest
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المؤلفون: Sánchez Delgado M, Camprubí C, Tümer Z, MARTINEZ, F., Milà M, Monk D
المصدر: AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instnameمصطلحات موضوعية: intellectual disability, KCNK9, Imprinting, autism spectrum disorder, methylation
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::2f7c5f4add50a4273e7603b9bd4306f3Test
https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=1868Test -
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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 -
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المؤلفون: Jacobsen, Iben Søgaard, Tümer, Z, Tommerup, N, Børglum, Anders, Horsbøl, H, Mors, Ole
المصدر: Jacobsen, I S, Tümer, Z, Tommerup, N, Børglum, A, Horsbøl, H & Mors, O 2005, ' T(4;12) translocation an a patient with bipolar affective disorder ' T(4;12) translocation an a patient with bipolar affective disorder, 17/12/2010, .
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pure_au_____::08b02743be0d48aec3406e133a25bd12Test
https://pure.au.dk/portal/da/publications/t412-translocation-an-a-patient-with-bipolar-affective-disorderTest(2c97ec50-ba68-11da-bee9-02004c4f4f50).html -
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المؤلفون: Bache, I., Van Assche, E., Cingoz, S., Bugge, M., Tümer, Z., Hjorth, M., Lundsteen, C., Lespinasse, J., Winther, K., Niebuhr, A., Kalscheuer, V., Liebaers, I., Bonduelle, M., Tournaye, H., Ayuso, C., Barbi, G., Blennow, E., Bourrouillou, G., Brondum-Nielsen, K., Bruun-Petersen, Gert, Croquette, M.F., Dahoun, S., Dallapiccola, B., Davison, V., Delobel, B., Duba, H.C., Duprez, L., Ferguson-Smith, M., FitzPatrick, D.R., Grace, E., Hansmann, I., Hultén, M., Jensen, P.K.A., Jonveaux, P., Kristoffersson, U., Lopez-Pajares, I., McGowan-Jordan, J., Murken, J., Orera, M., Parkin, T., Passarge, E., Ramos, C., Rasmussen, Kirsten
المصدر: Bache, I, Van Assche, E, Cingoz, S, Bugge, M, Tümer, Z, Hjorth, M, Lundsteen, C, Lespinasse, J, Winther, K, Niebuhr, A, Kalscheuer, V, Liebaers, I, Bonduelle, M, Tournaye, H, Ayuso, C, Barbi, G, Blennow, E, Bourrouillou, G, Brondum-Nielsen, K, Bruun-Petersen, G, Croquette, M F, Dahoun, S, Dallapiccola, B, Davison, V, Delobel, B, Duba, H C, Duprez, L, Ferguson-Smith, M, FitzPatrick, D R, Grace, E, Hansmann, I, Hultén, M, Jensen, P K A, Jonveaux, P, Kristoffersson, U, Lopez-Pajares, I, McGowan-Jordan, J, Murken, J, Orera, M, Parkin, T, Passarge, E, Ramos, C & Rasmussen, K 2004, ' An excess of chromosome 1 breakpoints in male infertility. ', European Journal of Human Genetics, vol. 12, pp. 993-1000 .
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=od______3062::5a374fae6724147fb3cbe4c18c19b89eTest
https://portal.findresearcher.sdu.dk/da/publications/14fe6160-f198-11db-821c-000ea68e967bTest -
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المؤلفون: Harboe, L H, Jensen, L R, Hansen, C, Horn, Per, Bendixen, Christian, Tommerup, N, Tümer, Z
المصدر: Harboe, L H, Jensen, L R, Hansen, C, Horn, P, Bendixen, C, Tommerup, N & Tümer, Z 2003, ' Cloning, Characterization and Chromosomal Localization of the SUS Scrofa CTR1 ', Animal Genetics, vol. 34, no. 1, pp. 59-61 .
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pure_au_____::5442797f2a52510f52ef1493a899b830Test
https://pure.au.dk/portal/da/publications/cloning-characterization-and-chromosomal-localization-of-the-sus-scrofa-ctr1Test(b66eb0f0-2347-11dc-b343-000ea68e967b).html -
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المؤلفون: Silahtaroglu, A. N., Brondum-Nielsen, K., Gredal, O., Werdelin, L., Panas, M., Petersen, M. B., Niels Tommerup, Tümer, Z.
المصدر: BMC Genetics, Vol 3, Iss 1, p 5 (2002)
BMC Genetics
Scopus-Elsevier
ResearcherIDمصطلحات موضوعية: Aged, 80 and over, Male, lcsh:QH426-470, Amyotrophic Lateral Sclerosis, DNA Mutational Analysis, fungi, Chromosome Mapping, Exons, Middle Aged, Polymorphism, Single Nucleotide, Introns, Cohort Studies, lcsh:Genetics, Databases, Genetic, Humans, Female, Research Article, Aged, Molecular Chaperones
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::6f74b191b55b958ec8f0b34b0a9a1139Test
http://www.biomedcentral.com/1471-2156/3/5Test
