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1دورية أكاديمية
المؤلفون: Martin, R., Splitt, M., Genevieve, D., Aten, E., Collins, A., de Bie, C. I., Faivre, L., Foulds, N., Giltay, J., Ibitoye, R., Joss, S., Kennedy, J., Kerr, B., Kivuva, E., Koopmans, M., Newbury-Ecob, R., Jean-Marçais, N., Peeters, E. A. J., Smithson, S., Tomkins, S., Tranmauthem, F., Piton, A., van Haeringen, A.
المصدر: European Journal of Human Genetics ; volume 27, issue 11, page 1677-1682 ; ISSN 1018-4813 1476-5438
مصطلحات موضوعية: Genetics (clinical), Genetics
الإتاحة: https://doi.org/10.1038/s41431-019-0413-6Test
http://www.nature.com/articles/s41431-019-0413-6.pdfTest
http://www.nature.com/articles/s41431-019-0413-6Test -
2دورية أكاديمية
المؤلفون: De Bie, C. I., Hummel, T. Z., Kindermann, A., Kokke, F. T. M., Damen, G. M., Kneepkens, C. M. F., Van Rheenen, P. F., Schweizer, J. J., Hoekstra, J. H., Norbruis, O. F., Tjon a Ten, W. E., Vreugdenhil, A. C., Deckers-Kocken, J. M., Gijsbers, C. F. M., Escher, J. C., De Ridder, L.
المصدر: Alimentary Pharmacology & Therapeutics ; volume 33, issue 2, page 243-250 ; ISSN 0269-2813
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3دورية أكاديمية
المؤلفون: Philips A. K., Pinelli M., de Bie C. I., Mustonen A., Maatta T., Arts H. H., Wu K., Roepman R., Moilanen J. S., Raza S., Varilo T., Scala G., Cocozza S., Gilissen C., van Gassen K. L. I., Jarvela I.
المساهمون: Philips, A. K., Pinelli, M., de Bie, C. I., Mustonen, A., Maatta, T., Arts, H. H., Wu, K., Roepman, R., Moilanen, J. S., Raza, S., Varilo, T., Scala, G., Cocozza, S., Gilissen, C., van Gassen, K. L. I., Jarvela, I.
مصطلحات موضوعية: C12orf4, founder effect, frameshift variant, intellectual disability, missense variant, whole exome sequencing, Aged, Amino Acid Sequence, Base Sequence, Child, Consanguinity, Exome, Family Health, Female, Finland, Genes, Recessive, Genetic Predisposition to Disease, Genotype, Geography, Human, Intracellular Signaling Peptides and Protein, Male, Netherland, Pedigree, Sequence Analysis, DNA, Sequence Homology, Amino Acid, Mutation
العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000393979600013; volume:91; issue:1; firstpage:100; lastpage:105; numberofpages:6; journal:CLINICAL GENETICS; http://hdl.handle.net/11588/776247Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84978880704; http://www.blackwellpublishing.com/aims.asp?ref=0009-9163?site=1Test
الإتاحة: https://doi.org/10.1111/cge.12821Test
http://hdl.handle.net/11588/776247Test
http://www.blackwellpublishing.com/aims.asp?ref=0009-9163?site=1Test -
4دورية أكاديمية
المؤلفون: Philips, A. K., Pinelli, M., de Bie, C. I., Mustonen, A., Määttä, T., Arts, H. H., Wu, K., Roepman, R., Moilanen, J. S., Raza, S., Varilo, T., Scala, G., Cocozza, S., Gilissen, C., van Gassen, K. L I, Järvelä, I.
المساهمون: Genetica Klinische Genetica, Child Health, Genetica Sectie Genoomdiagnostiek
مصطلحات موضوعية: C12orf4, Founder effect, Frameshift variant, Intellectual disability, Missense variant, Whole exome sequencing, Genetics(clinical), Genetics, Journal Article, Case Reports
وصف الملف: application/pdf
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5دورية
المؤلفون: Martin, R., Splitt, M., Genevieve, D., Aten, E., Collins, A., de Bie, C. I., Faivre, L., Foulds, N., Giltay, J., Ibitoye, R., Joss, S., Kennedy, J., Kerr, B., Kivuva, E., Koopmans, M., Newbury-Ecob, R., Jean-Marçais, N., Peeters, E. A. J., Smithson, S., Tomkins, S., Tranmauthem, F., Piton, A., van Haeringen, A.
المصدر: European Journal of Human Genetics: EJHG; November 2019, Vol. 27 Issue: 11 p1677-1682, 6p
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6دورية أكاديمية
المؤلفون: de Bie, C. I., Kindermann, A., Kokke, F. T. M., Damen, G. M., Kneepkens, C. M. F., van Rheenen, P. F., Schweizer, J. J., Hoekstra, J. H., Norbruis, O. F., Ten, W. E. Tjon A., Vreugdenhil, A. C., Deckers-Kocken, J. M., Gijsbers, C. F. M., Escher, J. C., de Ridder, L., Hummel, T.
المصدر: de Bie , C I , Kindermann , A , Kokke , F T M , Damen , G M , Kneepkens , C M F , van Rheenen , P F , Schweizer , J J , Hoekstra , J H , Norbruis , O F , Ten , W E T A , Vreugdenhil , A C , Deckers-Kocken , J M , Gijsbers , C F M , Escher , J C , de Ridder , L & Hummel , T 2011 , ' The duration of effect of infliximab maintenance treatment in paediatric Crohn's disease ....
مصطلحات موضوعية: INFLAMMATORY-BOWEL-DISEASE, SHORT-TERM, THERAPY, CHILDREN, ANTIBODY, SAFETY, EFFICACY, COHORT, NETHERLANDS, EXPERIENCE
الإتاحة: https://doi.org/10.1111/j.1365-2036.2010.04507.xTest
https://hdl.handle.net/11370/0208658f-5bed-4289-80b4-d67c3619a236Test
https://research.rug.nl/en/publications/0208658f-5bed-4289-80b4-d67c3619a236Test -
7
المؤلفون: Anju K Philips, Pinelli M, Ci, Bie, Mustonen A, Määttä T, Hh, Arts, Wu K, Roepman R, Js, Moilanen, Raza S, Varilo T, Scala G, Cocozza S, Gilissen C, Kl, Gassen, Järvelä I
المساهمون: Philips, A. K., Pinelli, M., de Bie, C. I., Mustonen, A., Maatta, T., Arts, H. H., Wu, K., Roepman, R., Moilanen, J. S., Raza, S., Varilo, T., Scala, G., Cocozza, S., Gilissen, C., van Gassen, K. L. I., Jarvela, I.
المصدر: Clinical Genetics, 91, 1, pp. 100-105
Europe PubMed Central
Clinical Genetics, 91, 100-105
Clinical Genetics, 91(1), 100. Wiley-Blackwellمصطلحات موضوعية: Male, Genotype, Intellectual disability, Missense variant, Genes, Recessive, C12orf4, Case Reports, whole exome sequencing, Consanguinity, Netherland, Frameshift variant, Intellectual Disability, Genetics, Journal Article, Humans, Exome, Genetic Predisposition to Disease, Genetics(clinical), Amino Acid Sequence, Child, Finland, Netherlands, Aged, Family Health, Base Sequence, Geography, Sequence Homology, Amino Acid, Intracellular Signaling Peptides and Proteins, Whole exome sequencing, Sequence Analysis, DNA, Founder effect, missense variant, frameshift variant, Founder Effect, Pedigree, Renal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11], Intracellular Signaling Peptides and Protein, Mutation, Female, Human
وصف الملف: image/pdf; application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::018b7c0ed747049cc658a558594d7f84Test
https://hdl.handle.net/2066/169700Test
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