1. A homozygous missense variant in the MLC1 gene underlies megalencephalic leukoencephalopathy with subcortical cysts in large kindred: Heterozygous carriers show seizure and mild motor function deterioration. Issue 4 (17th December 2021) Authors: Ain ul Batool, Syeda; Almatrafi, Ahmad; Fadhli, Fatima; Alluqmani, Majed; Sadia, ; Ali, Ghazanfar; Basit, Sulman Journal: American journal of medical genetics Issue: Volume 188:Issue 4(2022) Page Start: 1075 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A recurrent missense mutation in the EDAR gene causes severe autosomal recessive hypohidrotic ectodermal dysplasia in two consanguineous Kashmiri families. (5th August 2019) Authors: Sadia, ; Foo, Jia Nee; Khor, Chiea Chuen; Jelani, Musharraf; Ali, Ghazanfar Journal: Journal of gene medicine Issue: Volume 21:Number 9(2019) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Identification of a Novel Homozygous Missense (c.443A>T:p.N148I) Mutation in BBS2 in a Kashmiri Family with Bardet-Biedl Syndrome. (23rd February 2021) Authors: Ali, Ghazanfar; Sadia, ; Foo, Jia Nee; Nasir, Abdul; Chang, Chu-Hua; Chew, Elaine GuoYan; Latif, Zahid; Azeem, Zahid; Ain-ul-Batool, Syeda; Kazmi, Syed Akif Raza; Awan, Naheed Bashir; Khan, Abdul Hameed; Rehman, Fazal-Ur-; Khalid, Madiha; Wali, Abdul; Sarwar, Samina; Akhtar, Wasim; Ahmed Abbasi, ... Other Names: Erg n Sercan Academic Editor. Journal: BioMed research international Issue: Volume 2021(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Identification of a recurrent nonsense mutation in HR gene responsible for atrichia with papular lesions in two Kashmiri families. (17th February 2020) Authors: Ali, Ghazanfar; Awan, Naheed Bashir; Sadia, ; Khawaja, Abdul Waheed; Foo, Jia Nee; Khor, Chiea Chuen; Chang, Chu‐Hua; Chew, Elaine GuoYan; Kiani, Farhat Rafique; Jelani, Musharraf Journal: Journal of gene medicine Issue: Volume 22:Number 5(2020) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Sequencing and Characterization of Mitochondrial Protein-Coding Genes for Schizothorax niger (Cypriniformes: Cyprinidae) with Phylogenetic Consideration. (7th December 2020) Authors: Akhtar, Tasleem; Ali, Ghazanfar; Shafi, Nuzhat; Akhtar, Wasim; Khan, Abdul Hameed; Latif, Zahid; Wali, Abdul; Ain-ul-Batool, Syeda; Khan, Abdul Rehman; Mumtaz, Sadia; Altaf, Syed Iftikhar; Khawaja, Sundus; Sadia, ; Khalid, Madiha; Rehman, Fazal Ur; Javid, Qudir Other Names: Fiore Marco Academic Editor. Journal: BioMed research international Issue: Volume 2020(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗