المؤلفون: Blakes, A.J.M., Wai, H.A., Davies, I., Moledina, H.E., Ruiz, A., Thomas, T., Bunyan, D., Thomas, N.S., Burren, C.P., Greenhalgh, L., Lees, M., Pichini, A., Smithson, S.F., Taylor Tavares, A.L., O’Donovan, P., Douglas, A.G.L., Whiffin, N., Baralle, D., Lord, J.

وصف الملف: text

العلاقة: https://eprints.whiterose.ac.uk/207750/1/A%20systematic%20analysis%20of%20splicing%20variants%20identifies%20new%20diagnoses%20in%20the%20100,000%20Genomes%20Project.pdfTest; Blakes, A.J.M., Wai, H.A., Davies, I. et al. (16 more authors) (2022) A systematic analysis of splicing variants identifies new diagnoses in the 100,000 Genomes Project. Genome Medicine, 14 (1). 79. ISSN 1756-994X

الإتاحة: https://eprints.whiterose.ac.uk/207750Test/
https://eprints.whiterose.ac.uk/207750/1/A%20systematic%20analysis%20of%20splicing%20variants%20identifies%20new%20diagnoses%20in%20the%20100,000%20Genomes%20Project.pdfTest

المؤلفون: Wadanamby, S., El Garwany, S., DJA, C., Arundel, P., Bishop, N.J., CJ, D., Calder, A.D., Crowe, B., Burren, C.P., Saraff, V., Offiah, A.C.

وصف الملف: text

العلاقة: https://eprints.whiterose.ac.uk/179957/3/MOSAIC%20Final%20240921.pdfTest; Wadanamby, S., El Garwany, S., DJA, C. et al. (8 more authors) (2022) Monitoring skull base abnormalities in children with osteogenesis imperfecta – Review of current practice and a suggested clinical pathway. Bone, 154. 116235. ISSN 8756-3282

الإتاحة: https://eprints.whiterose.ac.uk/179957Test/
https://eprints.whiterose.ac.uk/179957/3/MOSAIC%20Final%20240921.pdfTest

المؤلفون: Edgerley, K., Barnicoat, A., Offiah, A.C., Calder, A.D., Mankad, K., Thomas, N.S., Bunyan, D.J., Williams, M., Buxton, C., Majumdar, A., Vijayakumar, K., Hilliard, T., Turner, J., Burren, C.P., Monsell, F., Smithson, S.F.

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::fcd6e6681feb16eb5d43f51bd54dd43eTest
https://eprints.whiterose.ac.uk/170334/7/AIFM1_final_draft_10.9.20.pdfTest

المؤلفون: Ashraf, T., Vaina, C., Giri, D., Burren, C.P., James, M., Offiah, A.C., Overton, T., Baptista, J., Ellard, S., Smithson, S.F.

العلاقة: Ashraf, T., Vaina, C., Giri, D. et al. (7 more authors) (2020) Expanding the phenotypic spectrum of IFT81 : associated ciliopathy syndrome. American Journal of Medical Genetics Part A, 182 (10). pp. 2403-2408. ISSN 1552-4825

الإتاحة: https://eprints.whiterose.ac.uk/164607Test/

المؤلفون: Midwinter, H., Hopkins, D., Archer, N.D., Burren, C.P., Hilliard, T.N.

المصدر: Journal of Cystic Fibrosis ; volume 7, page S92 ; ISSN 1569-1993

مصطلحات موضوعية: Pulmonary and Respiratory Medicine, Pediatrics, Perinatology and Child Health

الإتاحة: https://doi.org/10.1016/s1569-1993Test(08)60349-5
https://api.elsevier.com/content/article/PII:S1569199308603495?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1569199308603495?httpAccept=text/plainTest

المؤلفون: Kanani, F., Parker, M.J., Burren, C.P., Rankin, J., Balasubramanian, M.

العلاقة: Kanani, F. orcid.org/0000-0003-4388-0290 , Parker, M.J., Burren, C.P. et al. (2 more authors) (2019) Clinical report follow up: Type 1 Collagenopathy presenting with a Russell-Silver phenotype. American Journal of Medical Genetics Part A , 179 (1). pp. 139-140. ISSN 1552-4825

الإتاحة: https://doi.org/10.1002/ajmg.a.60680Test
https://eprints.whiterose.ac.uk/142382Test/

المؤلفون: Bishop, N., Adami, S., Ahmed, S.F., Anton, J., Arundel, P., Burren, C.P., Devogelaer, J.-P., Hangartner, T., Hosszu, E., Lane, J.M., Lorenc, R., Makitie, O., Munns, C.F., Paredes, A., Pavlov, H., Plotkin, H., Raggio, C.L., Reyes, M.L., Schoenau, E., Semler, O., Sillence, D.O., Steiner, R.D.

العلاقة: Bishop, N. et al. (2013) Risedronate in children with osteogenesis imperfecta: a randomised, double-blind, placebo-controlled trial. Lancet , 382(9902), pp. 1424-1432. (doi:10.1016/S0140-6736(13)61091-0 )

الإتاحة: https://doi.org/10.1016/S0140-6736Test(13)61091-0
http://eprints.gla.ac.uk/83033Test/

المؤلفون: Arundel, P., Ahmed, S.F., Allgrove, J., Bishop, N.J., Burren, C.P., Jacobs, B., Mughal, M.Z., Offiah, A.C., Shaw, N.J.

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::a476e845e013293454d1c0ef55ad7018Test
https://eprints.gla.ac.uk/78028/1/78028.pdfTest

المؤلفون: Scurr, I.J., Burren, C.P., Soothill, P., Overton, T., Denbow, M., Grier, D., Gargan, M.F., Mornet, E., Smithson, S.F.

المصدر: Bone ; volume 45, page S81 ; ISSN 8756-3282

مصطلحات موضوعية: Histology, Physiology, Endocrinology, Diabetes and Metabolism

الإتاحة: https://doi.org/10.1016/j.bone.2009.04.107Test
https://api.elsevier.com/content/article/PII:S8756328209013775?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S8756328209013775?httpAccept=text/plainTest

المؤلفون: Kinali, M., Robinson, R., Manzur, A.Y., Burren, C.P., Robb, S.A.

المصدر: Neuromuscular Disorders ; volume 17, issue 4, page 346-348 ; ISSN 0960-8966

مصطلحات موضوعية: Genetics (clinical), Neurology (clinical), Neurology, Pediatrics, Perinatology and Child Health

الإتاحة: https://doi.org/10.1016/j.nmd.2007.01.008Test
https://api.elsevier.com/content/article/PII:S0960896607000144?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0960896607000144?httpAccept=text/plainTest