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1دورية أكاديمية
المؤلفون: Schönewolf‐Greulich, B., Bisgaard, A‐M., Møller, R.S., Dunø, M., Brøndum‐Nielsen, K., Kaur, S., Van Bergen, N.J., Lunke, S., Eggers, S., Jespersgaard, C., Christodoulou, J., Tümer, Z.
المصدر: Clinical Genetics; Feb2019, Vol. 95 Issue 2, p221-230, 10p, 3 Diagrams, 1 Chart, 1 Graph
مصطلحات موضوعية: RETT syndrome, NUCLEOTIDE sequencing, PHENOTYPES, DE Lange's syndrome, PEOPLE with epilepsy
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2دورية أكاديمية
المؤلفون: Tümer, Z.1 zeynep.tumer@regionh.dk, Petris, M.2, Zhu, S.2, Mercer, J.3, Bukrinski, J.4, Bilz, S.5, Baerlocher, K.6, Horn, N.1, Møller, L.B1
المصدر: Clinical Genetics. Nov2017, Vol. 92 Issue 5, p548-553. 7p. 2 Color Photographs, 1 Chart.
مصطلحات موضوعية: *KINKY hair syndrome, *MISSENSE mutation, *COPPER metabolism, *PROTEIN expression, *NEUROLOGICAL disorders
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3دورية 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: Clinical Genetics; Jan2017, Vol. 91 Issue 1, p3-13, 11p
مصطلحات موضوعية: CONGENITAL disorders, GENOMIC imprinting, HUMAN abnormalities, EPIGENETICS, INDIVIDUALIZED medicine
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4دورية أكاديمية
المؤلفون: Schönewolf‐Greulich, B., Tejada, M.‐I., Stephens, K., Hadzsiev, K., Gauthier, J., Brøndum‐Nielsen, K., Pfundt, R., Ravn, K., Maortua, H., Gener, B., Martínez‐Bouzas, C., Piton, A., Rouleau, G., Clayton‐Smith, J., Kleefstra, T., Bisgaard, A.‐M., Tümer, Z.
المصدر: Clinical Genetics; Jun2016, Vol. 89 Issue 6, p733-738, 7p
مصطلحات موضوعية: INTELLECTUAL disabilities, RETT syndrome, MISSENSE mutation, PHENOTYPES, GENE silencing, GENETICS
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5دورية أكاديمية
المؤلفون: Boyle, M.I., Jespersgaard, C., Brøndum‐Nielsen, K., Bisgaard, A.‐M., Tümer, Z.
المصدر: Clinical Genetics; Jul2015, Vol. 88 Issue 1, p1-12, 12p, 1 Color Photograph, 1 Diagram, 5 Charts
مصطلحات موضوعية: DE Lange's syndrome, SCHIZOSACCHAROMYCES pombe, DWARFISM, HYPERTRICHOSIS, HUMAN abnormality genetics, GENITOURINARY organ abnormalities, PRENATAL diagnosis, GENETICS
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6دورية أكاديمية
المؤلفون: Roos, L., Fang, M., Dali, C., Jensen, H., Christoffersen, N., Wu, B., Zhang, J., Xu, R., Harris, P., Xu, X., Grønskov, K., Tümer, Z.
المصدر: Clinical Genetics; Sep2014, Vol. 86 Issue 3, p276-281, 6p, 2 Diagrams, 1 Chart
مصطلحات موضوعية: MICROPHTHALMIA, COLOBOMA, GENETIC mutation, ELECTROENCEPHALOGRAPHY, MAGNETIC resonance imaging, BRAIN imaging
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7دورية أكاديمية
المؤلفون: Jankov, RP, Boerkoel, CF, Hellmann, J, Sirkin, WL, Tümer, Z, Horn, N, Feigenbaum, A, Jankov, R P, Boerkoel, C F, Sirkin, W L, Tümer, Z
المصدر: Acta Paediatrica; Dec1998, Vol. 87 Issue 12, p1297-1300, 4p, 6 Black and White Photographs
مصطلحات موضوعية: NEONATAL diseases, VASCULAR diseases, BONE fractures, SPONTANEOUS fractures, SEQUENCE analysis, TREATMENT effectiveness, KINKY hair syndrome, COPPER, DISEASE complications
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8دورية أكاديمية
المؤلفون: Kreuder, J., Otten, A., Fuder, H., Tümer, Z., Tønnesen, T., Horn, N., Dralle, D., Tümer, Z, Tønnesen, T
المصدر: European Journal of Pediatrics; 1993, Vol. 152 Issue 10, p828-832, 5p
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9دورية أكاديمية
المؤلفون: Boyle, M.I., Jespersgaard, C., Nazaryan, L., Bisgaard, A. ‐ M., Tümer, Z.
المصدر: Clinical Genetics; Apr2017, Vol. 91 Issue 4, p647-649, 3p, 1 Diagram
مصطلحات موضوعية: DE Lange's syndrome, MOLECULAR genetics, NUCLEOTIDE sequencing, MICROCEPHALY, GENETIC disorders
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10دورية 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: Molecular Syndromology; Feb2014, Vol. 5 Issue 2, p65-75, 11p