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BMC Medical Genetics|February 17, 2016
Mitral regurgitation as a phenotypic manifestation of nonphotosensitive trichothiodystrophy due to a splice variant in MPLKIPKhadim Shah, Raja Hussain Ali, Muhammad Ansar, et al.Journal of Clinical & Translational Endocrinology|February 20, 2026
Identification of novel and recurrent mutations in nicotinamide nucleotide transhydrogenase (<i>NNT</i>) underlying familial glucocorticoid deficiency-type 4 in multiple Saudi familiesIbrahim Al Alwan, Raja Hussain Ali, Muhammad Umair, et al.International Journal of Dermatology|November 14, 2017
Sequence variants in nine different genes underlying rare skin disorders in 10 consanguineous familiesKhadim Shah, Sabba Mehmood, Abid Jan, et al.Human Molecular Genetics|February 1, 2014
Adenylate cyclase 1 (ADCY1) mutations cause recessive hearing impairment in humans and defects in hair cell function and hearing in zebrafishRegie Lyn P Santos-Cortez, Kwanghyuk Lee, Arnaud P Giese, et al.European Journal of Human Genetics : EJHG|June 17, 2021
ADAMTS1, MPDZ, MVD, and SEZ6: candidate genes for autosomal recessive nonsyndromic hearing impairmentThashi Bharadwaj, Isabelle Schrauwen, Sakina Rehman, et al.Clinical Genetics|May 22, 2024
Clinical and genetic investigation of 14 families with various forms of short stature syndromesFati Ullah Khan, Hammal Khan, Kifayat Ullah, et al.Pageof 2