Zobrazeno 1 - 10
of 136
pro vyhledávání: '"N. Lench"'
Publikováno v:
Case Reports in Genetics, Vol 2017 (2017)
Interstitial deletions of 4q are rarely reported, vary in size, and have limited genotype-phenotype correlations. Here, genome-wide array CGH analysis identified a 21.6 Mb region of copy number loss at 4q12-q21.1 in a patient diagnosed with dysmorphi
Externí odkaz:
https://doaj.org/article/9027efb0947f4084a5fe885c473c545c
Akademický článek
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Publikováno v:
Case Reports in Genetics, Vol 2017 (2017)
Case Reports in Genetics
Case Reports in Genetics
Interstitial deletions of 4q are rarely reported, vary in size, and have limited genotype-phenotype correlations. Here, genome-wide array CGH analysis identified a 21.6 Mb region of copy number loss at 4q12-q21.1 in a patient diagnosed with dysmorphi
Autor:
M. Ramsay, B.J. Wainwright, M. Farrall, X. Estivill, H. Sutherland, M.-F. Ho, R. Davies, S. Halford, F. Tata, C. Wicking, N. Lench, I. Bauer, C. Ferec, P. Farndon, H. Kruyer, P. Stanier, R. Williamson, P.J. Scambler
Publikováno v:
University of St Andrews CRIS
The mutation causing cystic fibrosis (CF) has been localized to the DNA sequence of 700 kb bounded by the loci identified by the markers pMP6d-9 (D7S399) and pJ3.11 (D7S8). A 560-kb fragment obtained after Sac II digestion of DNA from a cell line con
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd6a73dbfc3ca9dfbead02fa98614420
https://doi.org/10.1016/0888-7543(90)90446-2
https://doi.org/10.1016/0888-7543(90)90446-2
Autor:
A. Alfirevic, S.E. Antonarakis, A. Bhardwaj, P. Borry, C. Børsting, M.V. Busi, V.H.W. Dissanayake, R. Festenstein, C.L. Gaff, D.F. Gomez-Casati, M. Grisolía, P. Gupta, A. Haworth, B. Kerr, B.M. Knoppers, B. Korf, D. Kumar, N. Lench, A. Lucassen, I. Macciocca, E. Maher, T.A. Manolio, D. McHale, N. Morling, A. Mutreja, M. Penny, M. Pirmohamed, N.K. Rajput, Y.-H. Rogers, H. Savage, R. Saxena, M. Shabani, V.K. Sharma, V. Singh, N. Sirisena, D. Sumathipala, I. van Langen, K. Wettasinghe, J. Whitworth, A.L. Wise, C. Zhang
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::95d8d1a5abab2d5c71472918a0a59d28
https://doi.org/10.1016/b978-0-12-420196-5.01002-9
https://doi.org/10.1016/b978-0-12-420196-5.01002-9
The widespread implementation and uptake of next generation DNA sequencing–based genetic testing into routine clinical practice provides an opportunity to significantly improve the diagnosis of patients with rare disease. The provision of a compreh
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9ba8789306107596f83615b4481756f4
https://doi.org/10.1016/b978-0-12-420196-5.00004-6
https://doi.org/10.1016/b978-0-12-420196-5.00004-6
Akademický článek
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Autor:
Z. Jackson, Janice M. Fearne, Alan Brook, Ferranti S. L. Wong, L. Gangemi, G. Foster, B.M.J. Stringer, S.A. Kindelan, N. Lench
Publikováno v:
Journal of Dental Research. 79:1978-1982
Amelogenesis imperfecta (AI) is a heterogeneous group of inherited disorders of defective enamel formation. The major protein involved in enamel formation, amelogenin, is encoded by a gene located at Xp22.1-Xp22.3. This study investigated the molecul
Publikováno v:
British Dental Journal. 178:465-468
A unique family is recorded in which triplets were observed with the hypomaturation type of amelogenesis imperfecta. A simple technique of DNA analysis showed that two of the more severely affected triplets were monozygotic and the third less severel
Akademický článek
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