1. A novel homozygous sequence variant in GLI1 underlies first case of autosomal recessive pre‐axial polydactyly. Issue 4 (8th January 2019) Authors: Ullah, Asmat; Umair, Muhammad; Majeed, Ayesha I.; Abdullah, ; Jan, Abid; Ahmad, Wasim Journal: Clinical genetics Issue: Volume 95:Issue 4(2019) Page Start: 540 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Biallelic mutations in FLG, TGM1, and STS genes segregated with different types of ichthyoses in eight families of Pakistani origin. (15th February 2023) Authors: Khan, Niamatullah; Shah, Khadim; Fozia, Fozia; Khan, Sher A.; Muhammad, Nazif; Nasir, Abdul; Ahmad, Ijaz; Rehman, Zia U.; Jan, Abid; Muhammad, Noor; Khan, Saadullah Journal: International journal of dermatology Issue: Volume 62:Number 5(2023) Page Start: 672 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Disease causing homozygous variants in the human hairless gene. (18th December 2015) Authors: Mehmood, Sabba; Jan, Abid; Raza, Syed Irfan; Ahmad, Farooq; Younus, Muhammad; Irfanullah, ; Shahi, Shamim; Ayub, Muhammad; Khan, Saadullah; Ahmad, Wasim Journal: International journal of dermatology Issue: Volume 55:Number 9(2016) Page Start: 977 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Mutation screening of multiple Pakistani MCPH families revealed novel and recurrent protein‐truncating mutations of ASPM. (10th December 2021) Authors: Hussain, Sadam; Nawaz, Amjad; Hamid, Malaika; Ullah, Waseem; Khan, Iqbal Nawaz; Afshan, Mehak; Rehman, Adil; Nawaz, Hamid; Halswick, Julia; Rehman, Shoaib‐ur; Ahmad, Sohail; Muzammal, Muhammad; Muhammad, Noor; Jan, Abid; Khan, Saadullah; Windpassinger, Christian; Khan, Muzammil Ahmad Journal: Biotechnology and applied biochemistry Issue: Volume 69:Number 6(2022) Page Start: 2296 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Mutations in the lipase‐H gene causing autosomal recessive hypotrichosis and woolly hair. (13th March 2014) Authors: Mehmood, Sabba; Jan, Abid; Muhammad, Dost; Ahmad, Farooq; Mir, Hina; Younus, Muhammad; Ali, Ghazanfar; Ayub, Muhammad; Ansar, Muhammad; Ahmad, Wasim Journal: Australasian journal of dermatology Issue: Volume 56:Number 3(2015:Aug.) Page Start: e66 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Sequence variants in GDF5 and TRPS1 underlie brachydactyly and tricho‐rhino‐phalangeal syndrome type III. Issue 3 (13th February 2018) Authors: Ullah, Asmat; Umair, Muhammad; Hussain, Shabir; Jan, Abid; Ahmad, Wasim Journal: Pediatrics international Issue: Volume 60:Issue 3(2018) Page Start: 304 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Sequence variants in nine different genes underlying rare skin disorders in 10 consanguineous families. (13th November 2017) Authors: Shah, Khadim; Mehmood, Sabba; Jan, Abid; Abbe, Izoduwa; Hussain Ali, Raja; Khan, Anwar; Chishti, Muhammad S.; Lee, Kwanghyuk; Ahmad, Farooq; Ansar, Muhammad; Shahzad, Shaheen; Nickerson, Deborah A.; Bamshad, Michael J.; Coucke, Paul J.; Santos‐Cortez, Regie L. P.; Spritz, Richard A.; Leal, Suzann... Journal: International journal of dermatology Issue: Volume 56:Number 12(2017) Page Start: 1406 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Whole-genome SNP genotyping mapped a novel locus for hereditary hypotrichosis on chromosome 2q31.1–q32.2. Issue 2 (August 2015) Authors: Jan, Abid; Basit, Sulman; Wakil, Salma M.; Ramzan, Khushnooda; Ahmad, Wasim Journal: Journal of dermatological science Issue: Volume 79:Issue 2(2015:Aug.) Page Start: 173 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Whole-genome SNP genotyping mapped a novel locus for hereditary hypotrichosis on chromosome 2q31.1–q32.2. Issue 2 (August 2015) Authors: Jan, Abid; Basit, Sulman; Wakil, Salma M.; Ramzan, Khushnooda; Ahmad, Wasim Journal: Journal of dermatological science Issue: Volume 79:Issue 2(2015:Aug.) Page Start: 173 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗