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European Journal of Haematology|December 1, 2011
dRTA and hemolytic anemia: first detailed description of SLC4A1 A858D mutation in homozygous stateNaglaa A Fawaz, Ismail O Beshlawi, Shoaib Al Zadjali, et al.
Proceedings of the National Academy of Sciences of the United States of America|July 28, 2025
Rare variants in <i>BMAL1</i> are associated with a neurodevelopmental syndromeVishnu Anand Cuddapah, Dechun Chen, Bumsik Cho, et al.
Clinical Genetics|August 31, 2016
Genetic causes of moderate to severe hearing loss point to modifiersSadaf Naz, Ayesha Imtiaz, Ghulam Mujtaba, et al.
Frontiers in Psychology|October 5, 2018
Factor Structure of Urdu Version of the Flourishing ScaleFahad R Choudhry, Yaser M Al-Worafi, Bushra Akram, et al.
BMC Neurology|October 4, 2023
Structural and functional implications of SLC13A3 and SLC9A6 mutations: an in silico approach to understanding intellectual disabilitySyeda Iqra Hussain, Nazif Muhammad, Salah Ud Din Shah, et al.
European Journal of Heart Failure|November 8, 2012
Improvement in structural and functional echocardiographic parameters during chronic heart failure therapy guided by natriuretic peptides: mechanistic insights from the ProBNP Outpatient Tailored Chronic Heart Failure (PROTECT) studyRory B Weiner, Aaron L Baggish, Annabel Chen-Tournoux, et al.
Human Mutation|July 5, 2016
Mutational Spectrum of MYO15A and the Molecular Mechanisms of DFNB3 Human DeafnessAtteeq U Rehman, Jonathan E Bird, Rabia Faridi, et al.
Cancer Research Communications|May 20, 2024
Multi-omics Analysis of a Fecal Microbiota Transplantation Trial Identifies Novel Aspects of Acute GVHD PathogenesisArmin Rashidi, Maryam Ebadi, Tauseef U Rehman, et al.
Oncotarget|February 18, 2017
Upregulation of mucin glycoprotein MUC1 in the progression to esophageal adenocarcinoma and therapeutic potential with a targeted photoactive antibody-drug conjugateMohammed Adil Butt, Hayley Pye, Rehan J Haidry, et al.
Human Mutation|November 22, 2018
Mutational and phenotypic spectra of KCNE1 deficiency in Jervell and Lange-Nielsen Syndrome and Romano-Ward SyndromeRabia Faridi, Risa Tona, Alessandra Brofferio, et al.
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