21. Intragenic deletion mutation in the gene desmoglein 4 underlies autosomal recessive hypotrichosis in six consanguineous families. Issue 3 (June 2016) Authors: Muhammad, Dost; Khan, Bushra; Raza, Syed I.; Ahmad, Farooq; Channa, Naseem A.; Ansar, Muhammad; Ahmad, Wasim; Basit, Sulman Journal: Journal of Taibah University medical sciences Issue: Volume 11:Issue 3(2016:Sep.) Page Start: 203 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
22. Kleine‐Levin syndrome is associated with LMOD3 variants. (19th June 2018) Authors: Al Shareef, Saad M.; Basit, Sulman; Li, Sha; Pfister, Corinne; Pradervand, Sylvain; Lecendreux, Michel; Mayer, Geert; Dauvilliers, Yves; Salpietro, Vincenzo; Houlden, Henry; BaHammam, Ahmed S.; Tafti, Mehdi Journal: Journal of sleep research Issue: Volume 28:Number 3(2019) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
23. Latest perspectives of orally bioavailable 2, 4-diarylaminopyrimidine analogues (DAAPalogues) as anaplastic lymphoma kinase inhibitors: discovery and clinical developments. Issue 30 (4th May 2018) Authors: Latif, Muhammad; Ashraf, Zaman; Basit, Sulman; Ghaffar, Abdul; Zafar, Muhammad Sohail; Saeed, Aamer; Meo, Sultan Ayoub Journal: RSC advances Issue: Volume 8:Issue 30(2018) Page Start: 16470 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
24. Novel heterozygous sequence variant in the GLI1 underlies postaxial polydactyly. (29th October 2019) Authors: Yousaf, Maryam; Ullah, Asmat; Azeem, Zahid; Isani Majeed, Ayesha; Memon, Muhammad Iqbal; Ghous, Tahseen; Basit, Sulman; Ahmad, Wasim Journal: Congenital anomalies Issue: Volume 60:Number 4(2020) Page Start: 115 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
25. Novel homozygous loss-of-function mutations in RP1 and RP1L1 genes in retinitis pigmentosa patients. (2nd November 2019) Authors: Albarry, Maan Abdullah; Hashmi, Jamil Amjad; Alreheli, Ahdab Qasem; Albalawi, Alia M.; Khan, Bushra; Ramzan, Khushnooda; Basit, Sulman Journal: Ophthalmic genetics Issue: Volume 40:Number 6(2019) Page Start: 507 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
26. Novel missense and 3′-UTR splice site variants in LHFPL5 cause autosomal recessive nonsyndromic hearing impairment. Issue 11 (November 2018) Authors: Liaqat, Khurram; Chiu, Ilene; Lee, Kwanghyuk; Chakchouk, Imen; Andrade-Elizondo, Paula; Santos-Cortez, Regie; Hussain, Shabir; Nawaz, Shoaib; Ansar, Muhammad; Khan, Muhammad; Basit, Sulman; Schrauwen, Isabelle; Ahmad, Wasim; Leal, Suzanne Journal: Journal of human genetics Issue: Volume 63:Issue 11(2018) Page Start: 1099 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
27. 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 CYP2R1. Issue 1 (December 2016) Authors: Al-Barry, Ma'an; Albalawi, Alia; Sayf, Mohammed; Badawi, Abdulrahman; Afzal, Sibtain; Latif, Muhammad; Samman, Mohammed; Basit, Sulman Journal: BMC ophthalmology Issue: Volume 16:Issue 1(2016) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
28. Sequence analysis of the VSX1 and SOD1 genes in families with Keratoconus and a review of the literature. Issue 2 (April 2016) Authors: Al-Raddadi, Huda S.; Al-Barry, Ma'an A.; Al-Harbi, Essa; Samman, Mohammed I.; Albalawi, Alia M.; Basit, Sulman Journal: Journal of Taibah University medical sciences Issue: Volume 11:Issue 2(2016:Jun.) Page Start: 115 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
29. The need for population-based studies to estimate the rate of consanguinity in Almadinah Almunawwarah. Issue 4 (December 2015) Authors: Hannan, Mohammed; Basit, Sulman; Almontashiri, Naif A.; Khoshhal, Khalid I. Journal: Journal of Taibah University medical sciences Issue: Volume 10:Issue 4(2015:Dec.) Page Start: 509 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
30. Ultrastructure abnormalities of collagen and elastin in Arab patients with arterial tortuosity syndrome. (10th April 2022) Authors: Faiyaz‐Ul‐Haque, Muhammad; Mubarak, Mohammed; AbdulWahab, Atqah; AlRikabi, Ammar C.; Alsaeed, Abbas H.; Al‐Otaiby, Maram; Nawaz, Zafar; Zaidi, Syed H. E.; Basit, Sulman Journal: Journal of cutaneous pathology Issue: Volume 49:Number 7(2022) Page Start: 618 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗