Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Charlotte A. Sherlaw-Sturrock"'
Publikováno v:
American Journal of Medical Genetics Part A. 188:2790-2795
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c16f881f5e53a86e36c42ed37a90690d
https://doi.org/10.1002/ajmg.a.62868
https://doi.org/10.1002/ajmg.a.62868
Autor:
Asma Hamad, Charlotte A. Sherlaw-Sturrock, Kate Glover, Rachel Salmon, Karen Low, Ramya Nair, Francis H. Sansbury, LettieE. Rawlins, Jenny Carmichael, Rachael Horton, Sarah Wedderburn, Katherine Edgerley, Rachel Irving, Mary Callaghan, Catherine Mercer, Ruth McGowan, Leema Robert, Hannah Titheradge, Swati Naik
Publikováno v:
European Journal of Medical Genetics. 66:104714
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::07c6cf19c0766649381d4932d079577b
https://doi.org/10.1016/j.ejmg.2023.104714
https://doi.org/10.1016/j.ejmg.2023.104714
Publikováno v:
Mol Syndromol
Despite the increased use of array comparative genomic hybridisation, duplications of Xq remain rarely reported in the literature. Xq21.1q21.31 duplication has previously been reported only once in a boy with features of Prader Willi syndrome (PWS).
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e5de3178406ff67a4cbcb295102d4284
https://europepmc.org/articles/PMC8928204/
https://europepmc.org/articles/PMC8928204/
