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Genes|April 28, 2023
Identification of GLI1 and KIAA0825 Variants in Two Families with Postaxial PolydactylySafeer Ahmad, Muhammad Zeeshan Ali, Muhammad Muzammal, et al.
Photodiagnosis and Photodynamic Therapy|February 14, 2022
Surface-enhanced Raman spectroscopy of polymerase chain reaction (PCR) products of Rifampin resistant and susceptible tuberculosis patientsGhulam Dastgir, Muhammad Irfan Majeed, Haq Nawaz, et al.
International Journal of Ophthalmology|October 29, 2025
Protein truncating splice site variant in ALDH1A3 associated with bilateral anophthalmia identified in a multiplex consanguineous Pakistani familyKashmala Samad, Khalid J Alzahrani, Khalaf F Alsharif, et al.
Photodiagnosis and Photodynamic Therapy|November 12, 2022
Surface-enhanced Raman spectroscopy for characterization of filtrate portions of blood serum samples of typhoid patientsMaria Akram, Muhammad Irfan Majeed, Haq Nawaz, et al.
Metabolic Brain Disease|November 1, 2021
A novel protein truncating mutation in L2HGDH causes L-2-hydroxyglutaric aciduria in a consanguineous Pakistani familyMuhammad Muzammal, Muhammad Zeeshan Ali, Beatrice Brugger, et al.
Frontiers in Endocrinology|March 24, 2023
A GHRHR founder mutation causes isolated growth hormone deficiency type IV in a consanguineous Pakistani familySafeer Ahmad, Muhammad Zeeshan Ali, Sumra Wajid Abbasi, et al.
Genetics and Molecular Biology|February 13, 2026
A novel protein truncating mutation of TTC8 causes Bardet-Biedl Syndrome (BBS) in a Pakistani familySana Fatima, Dong Sun, Jianguo Han, et al.
Neurogenetics|December 26, 2025
Mutation screening of the ASPM gene in multiple Pashtun origin MCPH families revealed the recurrent nonsense mutation p.Trp1326*: A step towards the development of a genetic diagnostic testHamna Batool Hashmi, Muhammad Muzammal, Aiman Saleem, et al.
Photodiagnosis and Photodynamic Therapy|March 24, 2023
Comparison of surface-enhanced Raman spectral data sets of filtrate portions of serum samples of hepatitis B and Hepatitis C infected patients obtained by centrifugal filtrationMuhammad Zaman Nawaz, Haq Nawaz, Muhammad Irfan Majeed, et al.
Spectrochimica Acta. Part A, Molecular and Biomolecular Spectroscopy|October 9, 2022
Surface-enhanced Raman spectral characterization of antifungal activity of selenium and zinc based organometallic compoundsAli Raza, Soneya Parveen, Muhammad Irfan Majeed, et al.
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