Case report: Exome sequencing revealed disease-causing variants in a patient with spondylospinal thoracic dysostosis

por Bouchoucha, Sami, Chikhaoui, Asma, Najjar, Dorra, Zayoud, Khouloud, Zouari, Mohamed, Nessib, Mohamed Nabil, Kéfi, Rym, Yacoub-Youssef, Houda
Publicado 2023

Heterogeneous clinical features in Cockayne syndrome patients and siblings carrying the same CSA mutations

por Chikhaoui, Asma, Kraoua, Ichraf, Calmels, Nadège, Bouchoucha, Sami, Obringer, Cathy, Zayoud, Khouloud, Montagne, Benjamin, M’rad, Ridha, Abdelhak, Sonia, Laugel, Vincent, Ricchetti, Miria, Turki, Ilhem, Yacoub-Youssef, Houda
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