Whole exome sequencing identifies rare biallelic ALMS1 missense and stop gain mutations in familial Alström syndrome patients

por Kamal, Naglaa M., Sahly, Ahmed N., Banaganapalli, Babajan, Rashidi, Omran M., Shetty, Preetha J., Al-Aama, Jumana Y., Shaik, Noor A., Elango, Ramu, Saadah, Omar I.
Publicado 2020

Identification of a Rare Exon 19 Skipping Mutation in ALMS1 Gene in Alström Syndrome Patients From Two Unrelated Saudi Families

por Saadah, Omar I., Banaganapalli, Babajan, Kamal, Naglaa M., Sahly, Ahmed N., Alsufyani, Hadeel A., Mohammed, Arif, Ahmad, Aftab, Nasser, Khalidah Khalid, Al-Aama, Jumana Y., Shaik, Noor Ahmad, Elango, Ramu
Publicado 2021

Whole exome sequencing of a consanguineous family identifies the possible modifying effect of a globally rare AK5 allelic variant in celiac disease development among Saudi patients

por Al-Aama, Jumana Yousuf, Shaik, Noor Ahmad, Banaganapalli, Babajan, Salama, Mohammed A., Rashidi, Omran, Sahly, Ahmed N., Mohsen, Mohammed O., Shawoosh, Harbi A., Shalabi, Hebah Ahmad, Edreesi, Mohammad Al, Alharthi, Sameer E., Wang, Jun, Elango, Ramu, Saadah, Omar I.
Publicado 2017