Clinical and molecular characterization of 1q43q44 deletion and corpus callosum malformations: 2 new cases and literature review

por Khadija, Bochra, Rjiba, Khouloud, Dimassi, Sarra, Dahleb, Wafa, Kammoun, Molka, Hannechi, Hanen, Miladi, Najoua, Gouider-khouja, Neziha, Saad, Ali, Mougou-Zerelli, Soumaya
Publicado 2022

Identification and Characterization of a Novel Recurrent ERCC6 Variant in Patients with a Severe Form of Cockayne Syndrome B

por Zayoud, Khouloud, Kraoua, Ichraf, Chikhaoui, Asma, Calmels, Nadège, Bouchoucha, Sami, Obringer, Cathy, Crochemore, Clément, Najjar, Dorra, Zarrouk, Sinda, Miladi, Najoua, Laugel, Vincent, Ricchetti, Miria, Turki, Ilhem, Yacoub-Youssef, Houda
Publicado 2021