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BMC Medical Genetics|February 21, 2018
Identification of novel L2HGDH mutation in a large consanguineous Pakistani family- a case reportMuhammad Ikram Ullah, Abdul Nasir, Arsalan Ahmad, et al.Journal of Human Genetics|December 3, 2021
Novel variants in the LRP4 underlying Cenani-Lenz Syndactyly syndromeHammal Khan, Angie En Qi Chong, Muhammad Bilal, et al.Human Genetics|May 17, 2006
DFNB68, a novel autosomal recessive non-syndromic hearing impairment locus at chromosomal region 19p13.2Regie Lyn P Santos, Muhammad Jawad Hassan, Shaheen Sikandar, et al.The Journal of Dermatology|September 16, 2011
Congenital atrichia with papular lesions resulting from novel mutations in human hairless gene in four consanguineous familiesZahid Azeem, Naveed Wasif, Sulman Basit, et al.Plants (Basel, Switzerland)|May 14, 2022
Advancement and New Trends in Analysis of Pesticide Residues in Food: A Comprehensive ReviewShadma Wahab, Khursheed Muzammil, Nazim Nasir, et al.BMC Medical Genetics|November 17, 2018
Identification of novel LEPR mutations in Pakistani families with morbid childhood obesityRobina Khan Niazi, Anette P Gjesing, Mette Hollensted, et al.The Journal of Dermatology|August 29, 2025
Bi-Allelic DSG1 Splice-Site Variant Identified in a Family With Non-Syndromic Striate Palmoplantar KeratodermaSohail Ahmed, Nicole Cesarato, Ye Li, et al.Human Genetics|July 5, 2018
A variant in LMX1A causes autosomal recessive severe-to-profound hearing impairmentIsabelle Schrauwen, Imen Chakchouk, Khurram Liaqat, et al.Human Heredity|July 8, 2011
Novel autosomal recessive nonsyndromic hearing impairment locus DFNB90 maps to 7p22.1-p15.3Ghazanfar Ali, Kwanghyuk Lee, Paula B Andrade, et al.Archives of Dermatological Research|June 25, 2009
Recurrent mutations in functionally-related EDA and EDAR genes underlie X-linked isolated hypodontia and autosomal recessive hypohidrotic ectodermal dysplasiaZahid Azeem, Syed Kamran-Ul-Hassan Naqvi, Muhammad Ansar, et al.Pageof 34