학술논문
'학술논문'
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1~10
Academic Journal
Ana Marta; João Pedro Marques; Cristina Santos; Luísa Coutinho-Santos; Sara Vaz-Pereira; José Costa; Pedro Arede; Raquel Félix; Sara Geada; Nuno Gouveia; Rui Silva; Margarida Baptista; Miguel Lume; Ricardo Parreira; Célia Azevedo Soares; Maria João Menéres; Carolina Lemos; João Melo Beirão
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-12 (2024)
Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD
Academic Journal
Riccardo Sangermano; Iris Deitch; Virginie G. Peter; Rola Ba-Abbad; Emily M. Place; Erin Zampaglione; Naomi E. Wagner; Anne B. Fulton; Luisa Coutinho-Santos; Boris Rosin; Vincent Dunet; Ala’a AlTalbishi; Eyal Banin; Ana Berta Sousa; Mariana Neves; Anna Larson; Mathieu Quinodoz; Michel Michaelides; Tamar Ben-Yosef; Eric A. Pierce; Carlo Rivolta; Andrew R. Webster; Gavin Arno; Dror Sharon; Rachel M. Huckfeldt; Kinga M. Bujakowska
npj Genomic Medicine, Vol 6, Iss 1, Pp 1-10 (2021)
Academic Journal
Abigail R Moye; Nicola Bedoni; Jessica G Cunningham; Urikhan Sanzhaeva; Eric S Tucker; Peter Mathers; Virginie G Peter; Mathieu Quinodoz; Liliana P Paris; Luísa Coutinho-Santos; Pedro Camacho; Madeleine G Purcell; Abbie C Winkelmann; James A Foster; Elena N Pugacheva; Carlo Rivolta; Visvanathan Ramamurthy
PLoS Genetics, Vol 15, Iss 8, p e1008315 (2019)
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