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المؤلفون: Tooze, RS, Miller, KA, Swagemakers, SMA, Calpena, E, McGowan, SJ, Boute, O, Collet, C, Johnson, D, Laffargue, F, de Leeuw, N, Morton, JV, Noons, P, Ockeloen, CW, Phipps, JM, Tan, TY, Timberlake, AT, Vanlerberghe, C, Wall, SA, Weber, A, Wilson, LC, Zackai, EH, Mathijssen, IMJ, Twigg, SRF, Wilkie, AOM
المساهمون: Pathology, Plastic and Reconstructive Surgery and Hand Surgery
المصدر: Genetics in Medicine, 25(9):100883. Lippincott Williams & Wilkins
مصطلحات موضوعية: Genetics (clinical)
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::344a46148d5e8f909edaba47a9af5b4e
https://doi.org/10.1016/j.gim.2023.100883 -
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المؤلفون: Dirk Schmidt-Arras, S Manrique, Jürgen Scheller, Glüer C-C., Jonathan Jung, Arian Laurence, Wilkie Aom., Dominik Aschenbrenner, Steven A. Wall, Miryam Müller, Chen Y-H., U Borgmeyer, T Damm, Twigg Srf., Neele Schumacher, F Krause, E Y Jones, Stefan Rose-John, Tobias Schwerd, Holm H. Uhlig
المصدر: Bone Research
Bone Research, Vol 8, Iss 1, Pp 1-12 (2020)مصطلحات موضوعية: 0301 basic medicine, Histology, Physiology, Endocrinology, Diabetes and Metabolism, medicine.medical_treatment, Pathogenesis, Ciliary neurotrophic factor, lcsh:Physiology, Article, 03 medical and health sciences, 0302 clinical medicine, medicine, Bone, Receptor, lcsh:QH301-705.5, Phenocopy, lcsh:QP1-981, biology, Transfection, Glycoprotein 130, Penetrance, Cell biology, 030104 developmental biology, Cytokine, lcsh:Biology (General), biology.protein, Cytokine receptor, 030217 neurology & neurosurgery
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المؤلفون: Calpena, E, Hervieu, A, Kaserer, T, Swagemakers, SMA, Goos, JAC, Popoola, O, Ruiz, MJ, Dieber, T, Bownass, L, Brilstra, EH, Brimble, E, Foulds, N, Grebe, TA, Harder, AVE, Lees, MM, Monaghan, KG, Newbury-Ecob, RA, Ong, K-R, Osio, D, Santos, FJ, Ruzhnikov, MRZ, Telegrafi, A, van Binsbergen, E, van Dooren, MF, Study, Deciphering Developmental Disorders, van der Spek, PJ, Twigg, SRF, Mathijssen, IMJ, Clarke, PA, Wilkie, A
المساهمون: Pathology, Plastic and Reconstructive Surgery and Hand Surgery, Clinical Genetics
المصدر: American Journal of Human Genetics, 104(4), 709-720. Cell Press
American Journal of Human Geneticsمصطلحات موضوعية: Heart Defects, Congenital, Male, Heterozygote, behavioral disorder, kinase, Developmental Disabilities, CDK8, dominant negative, Mutation, Missense, Cyclin C, Report, Intellectual Disability, Mediator kinase modulopathy, Humans, Exome, Mediator complex, hypotonia, Phosphorylation, Child, Brain, Infant, Syndrome, Cyclin-Dependent Kinase 8, congenital heart disease, de novo mutation, Cyclin-Dependent Kinases, Phenotype, Child, Preschool, Mutation, Female
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::0ee1be1d5165b3d84b13f585cbbcf42f
https://pure.eur.nl/en/publications/41a0830d-84cc-45cd-9db1-3553c3f86020 -
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المؤلفون: Shahin, T, Aschenbrenner, D, Cagdas, D, Bal, SK, Conde, CD, Garncarz, W, Medgyesi, D, Schwerd, T, Karaatmaca, B, Cetinkaya, PG, Twigg, SRF, Cant, A, Wilkie, AOM, Tezcan, I, Uhlig, HH, Boztug, K
URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::f456433d37e64cb8b0d0ca4bf84a5ec5
https://doi.org/10.3324/haematol.2018.194233 -
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المؤلفون: Morton Jev., Helen Lord, Wilkie Aom., Araceli Cuellar, Tracy Lester, Meena Balasubramanian, Twigg Srf., Simon J. McGowan, Simeon A. Boyadjiev, A. Weber, David Johnson, Louise C. Wilson, Mathijssen Imj., F Boardman-Pretty, Steven A. Wall, J M Phipps, Wanda Lattanzi, Eduardo Calpena, N Koelling, Michael L. Cunningham, Swagemakers Sma., Krithi Bala, Sofia Douzgou, Deborah J. Shears
المصدر: Genetics in Medicine. 22:1567
مصطلحات موضوعية: Genotype-phenotype distinction, Published Erratum, ComputingMethodologies_DOCUMENTANDTEXTPROCESSING, MEDLINE, medicine, Genomics, Computational biology, Biology, medicine.disease, Genetics (clinical), Craniosynostosis
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المؤلفون: Reijnders, MRF, Miller, KA, Alvi, M, Goos, JAC, Lees, MM, de Burca, A, Henderson, A, Kraus, A, Mikat, B, de Vries, BBA, Isidor, B, Kerr, B, Marcelis, C, Schluth-Bolard, C, Deshpande, C, Ruivenkamp, CAL, Wieczorek, D, Deciphering Developmental Disorders Study, Baralle, D, Blair, EM, Engels, H, Lüdecke, H-J, Eason, J, Santen, GWE, Clayton-Smith, J, Chandler, K, Tatton-Brown, K, Payne, K, Helbig, K, Radtke, K, Nugent, KM, Cremer, K, Strom, TM, Bird, LM, Sinnema, M, Bitner-Glindzicz, M, van Dooren, MF, Alders, M, Koopmans, M, Brick, L, Kozenko, M, Harline, ML, Klaassens, M, Steinraths, M, Cooper, NS, Edery, P, Yap, P, Terhal, PA, van der Spek, PJ, Lakeman, P, Taylor, RL, Littlejohn, RO, Pfundt, R, Mercimek-Andrews, S, Stegmann, APA, Kant, SG, McLean, S, Joss, S, Swagemakers, SMA, Douzgou, S, Wall, SA, Küry, S, Calpena, E, Koelling, N, McGowan, SJ, Twigg, SRF, Mathijssen, IMJ, Nellaker, C, Brunner, HG, Wilkie, AOM
المصدر: American Journal of Human Genetics, 102(6), 1195-1203
American journal of human genetics, vol 102, iss 6مصطلحات موضوعية: Adult, Male, Adolescent, kinase, Messenger, Inheritance Patterns, Translocation, Medical and Health Sciences, Cell Line, Young Adult, Genetic, Clinical Research, Loss of Function Mutation, Genetics, 2.1 Biological and endogenous factors, Humans, Aetiology, Child, Preschool, Genetic Association Studies, Genetics & Heredity, Tousled-like, Base Sequence, Human Genome, Neurosciences, Facies, Infant, Deciphering Developmental Disorders Study, Biological Sciences, Brain Disorders, haploinsufficiency, Neurodevelopmental Disorders, intellectual disability, RNA, Female, Protein Kinases, facial averaging, Biotechnology
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::623bf0658c2dd1fcad885b720f5373c3
http://hdl.handle.net/1887/79379 -
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المؤلفون: Hamilton, M, Caswell, R, Canham, N, Twigg, SRF, Wilkie, AOM, et al
المصدر: Journal of Medical Genetics. 55(1)
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8Identification of causative variants in TXNL4A in Burn-McKeown syndrome and isolated choanal atresia
المؤلفون: Goos, Jacqueline, Swagemakers, Sigrid, Twigg, SRF, van Dooren, Marieke, Hoogeboom, Jeannette, Beetz, C, Gunther, S, Magielsen, Frank, Ockeloen, C W, Ramos-Arroyo, MA, Pfundt, R, Yntema, HG, Spek, PJ, Stanier, P, Wieczorek, D, Wilkie, AOM, van den Ouweland, AMW, Mathijssen, IMJ, Hurst, JA
المساهمون: Plastic and Reconstructive Surgery and Hand Surgery, Pathology, Clinical Genetics
المصدر: European Journal of Human Genetics, 25(10), 1126-1133. Nature Publishing Group
وصف الملف: application/pdf
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المؤلفون: Twigg, SRF, Wilkie, AOM, Hufnagel, RB, Miller, KA, Zhou, Y, McGowan, SJ, Taylor, J, Craft, J, Taylor, JC, Santoro, SL, Huang, T, Hopkin, RJ, Brady, AF, Clayton-Smith, J, Clericuzio, CL, Grange, DK, Groesser, L, Hafner, C, Horn, D, Temple, IK, Dobyns, WB, Curry, CJ, Jones, MC
URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::398df20c096adb044cf30378bd57dea9
https://doi.org/10.1016/j.ajhg.2016.04.007 -
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المؤلفون: Twigg, SRF, Ousager, LO, Miller, KA, Zhou, Y, Elalaoui, SC, Sefiani, A, Bak, GC, Hove, H, Hansen, LK, Fagerberg, CR, Tajir, M, Wilkie, AOM
المصدر: Twigg, S R F, Ousager, L B, Miller, K A, Zhou, Y, Elalaoui, S C, Sefiani, A, Bak, G S, Hove, H, Kjærsgaard Hansen, L, Fagerberg, C R, Tajir, M & Wilkie, A O M 2016, ' Acromelic frontonasal dysostosis and ZSWIM6 mutation : phenotypic spectrum and mosaicism ', Clinical Genetics, vol. 90, no. 3, pp. 270-275 . https://doi.org/10.1111/cge.12721
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https://findresearcher.sdu.dk:8443/ws/files/121727930/Twigg_et_al_2016_Clinical_Genetics.pdf
Find this article in full text from Springer Verlag.