Pretraga

Rezultati

A point mutation in the 5' splice site of the dystrophin gene first intron responsible for X-linked dilated cardiomyopathy [1996]

Milašin, Jelena ; Muntoni, F; Severini, GM; Bartoloni, L; Vatta, M; Krajinović, Maja; Mateddu, A; Angelini, C; Camerini, F; Falaschi, A;

Mestroni, L; Giacca, M.; Pinamonti, B; Sinagra, G; Di Lenarda, A; Silvestri, F; Bussani, R; Davanzo, M;

Reduced sodium/proton exchanger NHE3 activity causes congenital sodium diarrhea [2015]

Janecke, Andreas R; ...; Perisic, Vojislav N; Ristic, Nina; ...; (broj, koautora 33)

PITX2 deficiency and associated human disease: insights from the zebrafish model [2018]

Hendee, Kathryn E; Sorokina, Elena A; Muheisen, Sanaa S; Reis, Linda M; Tyler, Rebecca C; Markovic, Vujica D; Cuturilo, Goran; Link, Brian A; Semina, Elena V

The mutational spectrum of human malignant autosomal recessive osteopetrosis [2001]

Sobacchi, Cristina; Frattini, A; Orchard, PJ; Porras, O; Tezcan, I; Andolina, M; Babul-Hirji, R; Baric, I; Canham, N; Chitayat, D;

Dupuis-Girod, S; Ellis, I; Etzioni, A; Fasth, A; Fisher, A; Gerritsen, B; Gulino, V; Horwitz, EM; Klamroth, V; Lanino, E; Mirolo, M; Musio, A; Matthijs, G; Nonomaya, S; Notarangelo, LD; Ochs, HD; Furga, AS; Valiaho, J; van, Hove JLK; Vihinen, M; Vujic, Dragana S; Vezzoni, P; Villa, A;

SOX3 is an X-linked gene related to SRY [1993]

Stevanović, Milena ; Lovell-badge, Robin; Collignon, Jérme; Goodfellow, Peter N.

Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15 (vol 28, pg 2900, 2019) [2020]

Cheng, Hanyin; ...; Mihajlovic, Ljubisa; ...; (broj, koautora 29)

Novel GNB1 mutations disrupt assembly and function of G protein heterotrimers and cause global developmental delay in humans [2017]

Lohmann, Katja; Masuho, Ikuo; Patil, Dipak N.; Baumann, Hauke; Hebert, Eva; Steinrücke, Sofia; Trujillano, Daniel; Skamangas, Nickolas K.; Dobricic, Valerija; Hüning, Irina;

Gillessen-Kaesbach, Gabriele; Westenberger, Ana; Savić Pavićević, Dušanka ; Münchau, Alexander; Oprea, Gabriela; Klein, Christine; Rolfs, Arndt; Martemyanov, Kirill A.;

Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15 [2019]