Zobrazeno 1 - 1
of 1
pro vyhledávání: '"copy -number disorders"'
Autor:
Lorraine N. Clark, Krzysztof Kiryluk, Francesco Scolari, Gian Marco Ghiggeri, Marcin Zaniew, Anna Materna-Kiryluk, Valentina Corbani, Anita Ammenti, Stephen Sanders, Stefania Giberti, Hana Flögelová, Daniele Cusi, Ali G. Gharavi, Maddalena Gigante, Simona Curioni, Kristina Drnasin, Hakon Hakonarson, Akshata Kini, Landino Allegri, Simone Sanna-Cherchi, Roel Sterken, Luca Bernardo, Claudia Izzi, Nadica Ristoska-Bojkovska, Adela Arapović, Loreto Gesualdo, Brittany J. Perry, Sandosh Padmanabhan, Matthew W. State, Vladimir J Lozanovski, Alba Carrea, Cristina Barlassina, Dexter Hadley, Matthew G. Sampson, Richard P. Lifton, Tatiana Foroud, Wendy K. Chung, Gianluca Caridi, Miguel Verbitsky, Shannon N. Nees, Zoran Gucev, Nilgun Kacak, Marijan Saraga, Vinicio Goj, Katelyn Elizabeth Burgess, Velibor Tasic, Monica Bodria, Patricia L. Weng, Stefania Ferretti, Beatrice Bianco, Danio Somenzi, Corrado Murtas, Anna Latos-Bielenska, Vaidehi Jobanputra, Franca Allegri, Anna F. Dominiczak
Publikováno v:
American journal of human genetics, vol 91, iss 6
We examined the burden of large, rare, copy-number variants (CNVs) in 192 individuals with renal hypodysplasia (RHD) and replicated findings in 330 RHD cases from two independent cohorts. CNV distribution was significantly skewed toward larger gene-d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::37aace9b86699c6a0922f8cdf344d229
