Exome sequencing identified rare variants in genes HSPG2 and ATP2B4 in a family segregating developmental dysplasia of the hip

por Basit, Sulman, Albalawi, Alia M., Alharby, Essa, Khoshhal, Khalid I.
Publicado 2017

Whole genome genotyping mapped regions on chromosome 2 and 18 in a family segregating Waardenburg syndrome type II

por Albarry, Maan Abdullah, Alreheli, Ahdab Qasem, Albalawi, Alia M., Basit, Sulman
Publicado 2019

Missense Mutations in the CTSC Gene in Saudi Families Segregating Papillon-Lefèvre Syndrome

por Albalawi, Alia M., Hashmi, Jamil A., Alfadhli, Fatima, Almatrafi, Ahmad, Ramzan, Khushnooda, Basit, Sulman
Publicado 2020

Exome sequencing revealed a novel loss‐of‐function variant in the GLI3 transcriptional activator 2 domain underlies nonsyndromic postaxial polydactyly

por Umair, Muhammad, Wasif, Naveed, Albalawi, Alia M., Ramzan, Khushnooda, Alfadhel, Majid, Ahmad, Wasim, Basit, Sulman
Publicado 2019

A novel splice-site mutation in the ASPM gene underlies autosomal recessive primary microcephaly

por Hashmi, Jamil A., Al-Harbi, Khalid M., Ramzan, Khushnooda, Albalawi, Alia M., Mehmood, Amir, Samman, Mohammed I., Basit, Sulman
Publicado 2016

KMT2C, a histone methyltransferase, is mutated in a family segregating non-syndromic primary failure of tooth eruption

por Assiry, Ali A., Albalawi, Alia M., Zafar, Muhammad S., Khan, Siraj D., Ullah, Anhar, Almatrafi, Ahmed, Ramzan, Khushnooda, Basit, Sulman
Publicado 2019

Frameshift variant in MITF gene in a large family with Waardenburg syndrome type II and a co-segregation of a C2orf74 variant

por Albarry, Maan Abdullah, Latif, Muhammad, Alreheli, Ahdab Qasem, Awadh, Mohammed A., Almatrafi, Ahmad M., Albalawi, Alia M., Basit, Sulman
Publicado 2021

Sequence analysis of four vitamin D family genes (VDR, CYP24A1, CYP27B1 and CYP2R1) in Vogt-Koyanagi-Harada (VKH) patients: identification of a potentially pathogenic variant in CY...

por Al-Barry, Ma’an Abdullah, Albalawi, Alia M, Sayf, Mohammed Abu, Badawi, Abdulrahman, Afzal, Sibtain, Latif, Muhammad, Samman, Mohammed I., Basit, Sulman
Publicado 2016