Identification of compound heterozygous patients with primary hyperoxaluria type 1: clinical evaluations and in silico investigations

por Kanoun, Houda, Jarraya, Faiçal, Maalej, Bayen, Lahiani, Amina, Mahfoudh, Hichem, Makni, Fatma, Hachicha, Jamil, Fakhfakh, Faiza
Publicado 2017

Custom Next‐Generation Sequencing Identifies Novel Mutations Expanding the Molecular and clinical spectrum of isolated Hearing Impairment or along with defects of the retina, the t...

por Said, Mariem Ben, Ayed, Ikhlas Ben, Elloumi, Ines, Hasnaoui, Mehdi, Souissi, Amal, Idriss, Nabil, Aloulou, Hajer, Chabchoub, Imen, Maâlej, Bayen, Driss, Dorra, Masmoudi, Saber
Publicado 2022