Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Raed Abdulelah Al-Badran"'
Autor:
Mostafa Neissi, Adnan Issa Al-Badran, Misagh Mohammadi-Asl, Raed Abdulelah Al-Badran, Motahareh Sheikh-Hosseini, Mojdeh Roghani, Javad Mohammadi-Asl
Publikováno v:
Journal of Rare Diseases, Vol 3, Iss 1, Pp 1-9 (2024)
Abstract Background Niemann-Pick disease type C poses a significant challenge within the landscape of rare genetic disorders, marked by its connection to variants in the NPC1 or NPC2 genes. This autosomal recessive lipid storage disorder unfolds with
Externí odkaz:
https://doaj.org/article/6b7989370270443b8948f18fe9fb778c
Autor:
Mostafa Neissi, Hadideh Mabudi, Adnan Issa Al-Badran, Javad Mohammadi-Asl, Raed Abdulelah Al-Badran
Publikováno v:
Egyptian Journal of Medical Human Genetics, Vol 24, Iss 1, Pp 1-6 (2023)
Abstract Background Charcot–Marie–Tooth disease comprises a large spectrum of clinically heterogeneous disorders. PLEKHG5 variants have shown an intermediate form of autosomal-recessive Charcot–Marie–Tooth disease C and distal spinal muscular
Externí odkaz:
https://doaj.org/article/8a792d9e64214f42865d4d92d57af81d
Autor:
Raed Abdulelah Al-Badran, Adnan Issa Al-Badran, Hadideh Mabudi, Mostafa Neissi, Javad Mohammadi-Asl
Publikováno v:
Egyptian Journal of Medical Human Genetics, Vol 23, Iss 1, Pp 1-5 (2022)
Abstract Background Autosomal recessive cataract (CTRCT18) is a rare type of congenital cataract that develops to complete and lifelong childhood blindness. This inherited disorder is one of the major visual health concerns in infants. Genetic studie
Externí odkaz:
https://doaj.org/article/2edf1edf35e34068b7835c34c4eb395c
Autor:
Mostafa Neissi, Husham Khirullah Abdulzahra, Motahareh Sheikh-Hosseini, Hadideh Mabudi, Javad Mohammadi-Asl, Raed Abdulelah Al-Badran
Publikováno v:
International Journal of Biomedicine, Vol 12, Iss 1, Pp 164-166 (2022)
Hereditary hearing loss is the most common sensory neural disorder, which has been revealed to have high genetic heterogeneity. Herein, we aimed to figure out the underlying genetics of the subject from an Iranian deaf family. Next-generation sequenc
Externí odkaz:
https://doaj.org/article/8514a31c6b964ce7b45b655e89ec5086