Truncating ARL6IP1 variant as the genetic cause of fatal complicated hereditary spastic paraplegia

by Salma M. Wakil, Safa Alhissi, Haya Al Dossari, Ayesha Alqahtani, Sherin Shibin, Brahim T. Melaiki, Josef Finsterer, Amal Al-Hashem, Saeed Bohlega, Anas M. Alazami
Published 2019-07-01

Novel CARMIL2 Mutations in Patients with Variable Clinical Dermatitis, Infections, and Combined Immunodeficiency

by Anas M. Alazami, Anas M. Alazami, Maryam Al-Helale, Safa Alhissi, Bandar Al-Saud, Huda Alajlan, Dorota Monies, Dorota Monies, Zeeshan Shah, Zeeshan Shah, Mohamed Abouelhoda, Mohamed Abouelhoda, Rand Arnaout, Rand Arnaout, Hasan Al-Dhekri, Nouf S. Al-Numair, Hazem Ghebeh, Hazem Ghebeh, Farrukh Sheikh, Hamoud Al-Mousa, Hamoud Al-Mousa, Hamoud Al-Mousa
Published 2018-02-01