المؤلفون: Sharma, V, Fenwick, A, Brockop, MS, McGowan, S, Goos, J, Hoogeboom, A, Brady, A, Jeelani, O, Lynch, SA, Mulliken, J, Murray, D, Phipps, J, Sweeney, E, Tomkins, SE, Wilson, L, Bennett, S, Cornall, R, Broxholme, J, Kanapin, A, Donnelly, P, Johnson, D, Wall, SA, van der Spek, P, Mathijssen, I, Maxson, R

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______1064::f7e965552e3e58239ebce3944c5347a5
https://ora.ox.ac.uk/objects/uuid:77a37a71-bbd9-4226-9e31-f65ade6fc9d2

المؤلفون: Sharma, VP, Fenwick, AL, Brockop, MS, McGowan, SJ, Goos, JAC, Hoogeboom, AJM, Brady, AF, Jeelani, O, Lynch, SA, Mulliken, JB, Murray, DJ, Phipps, JM, Sweeney, E, Tomkins, SE, Wilson, LC, Bennett, S, Cornall, RJ, Broxholme, J, Kanapin, A, Donnelly, P, Johnson, D, Wall, SA, van der Spek, PJ, Mathijssen, IMJ, Maxson, RE, Twigg, SRF, Wilkie, AOM

المصدر: LANCET. 381

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______1064::5d7fbbbd710bbe5cf64db4636f2945ba
http://ora.ox.ac.uk/objects/uuid:77a37a71-bbd9-4226-9e31-f65ade6fc9d2

المؤلفون: Sharma, VP, Fenwick, AL, Brockop, MS, McGowan, SJ, Goos, Jacqueline, Hoogeboom, Jeannette, Brady, AF, Jeelani, NO, Lynch, SA, Mulliken, JB, Murray, DJ, Phipps, JM, Sweeney, E, Tomkins, SE, Wilson, LC, Bennett, S, Cornall, RJ, Broxholme, J, Kanapin, A, Johnson, D, Wall, SA, van der Spek, Peter, Mathijssen, Irene, Maxson, RE, Twigg, SRF, Wilkie, AOM

المساهمون: Plastic and Reconstructive Surgery and Hand Surgery, Clinical Genetics, Pathology

المصدر: Nature Genetics, 45(10), 1261-1261. Nature Publishing Group

URL الوصول: https://explore.openaire.eu/search/publication?articleId=narcis______::3c378f73639266fba82ca9afa9d8a40a
https://pure.eur.nl/en/publications/d6818304-01e9-4cc2-8d39-d8df1a863353

المؤلفون: Sharma VP; Clinical Genetics Group, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK., Fenwick AL, Brockop MS, McGowan SJ, Goos JA, Hoogeboom AJ, Brady AF, Jeelani NO, Lynch SA, Mulliken JB, Murray DJ, Phipps JM, Sweeney E, Tomkins SE, Wilson LC, Bennett S, Cornall RJ, Broxholme J, Kanapin A, Johnson D, Wall SA, van der Spek PJ, Mathijssen IM, Maxson RE, Twigg SR, Wilkie AO

مؤلفون مشاركون: 500 Whole-Genome Sequences (WGS500) Consortium

المصدر: Nature genetics [Nat Genet] 2013 Mar; Vol. 45 (3), pp. 304-7. Date of Electronic Publication: 2013 Jan 27.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE

مواضيع طبية MeSH: Craniosynostoses*/complications , Craniosynostoses*/genetics , Craniosynostoses*/pathology, Basic Helix-Loop-Helix Transcription Factors/*genetics , Nuclear Proteins/*genetics , Twist-Related Protein 1/*genetics, Acrocephalosyndactylia/complications ; Acrocephalosyndactylia/genetics ; Acrocephalosyndactylia/pathology ; Animals ; Cranial Sutures/growth & development ; Cranial Sutures/pathology ; Dimerization ; Exome ; Gene Expression Regulation, Developmental ; Heterozygote ; Humans ; Mice ; Mice, Transgenic ; Molecular Sequence Data ; Mutation ; Sequence Analysis, DNA ; Transcriptional Activation