Disease: Andersen-Tawil syndrome
- Body mass index stratified meta-analysis of genome-wide association studies of polycystic ovary syndrome in women of European ancestry
- Clinical presentation and genetics of tricho-rhino-phalangeal syndrome (TRPS) type 1: A single-center case series of 15 patients and seven novel TRPS1 variants
- COVID-19: A Challenge to the Safety of Assisted Reproduction
- Cumulative Anticholinergic Burden and its Predictors among Older Adults with Alzheimer's Disease Initiating Cholinesterase Inhibitors
- Endocrine, cardiac and neuropsychological aspects of adult congenital adrenal hyperplasia
- Evaluation of the Sleep Profile in Children With Cri du Chat Syndrome: A Pilot Study
- Exploring the molecular pathways linking sleep phenotypes and <em>POGZ</em>-associated neurodevelopmental disorder
- Extracellular Kir2.1(C122Y) Mutant Upsets Kir2.1-PIP(2) Bonds and Is Arrhythmogenic in Andersen-Tawil Syndrome
- Extracellular Kir2.1(C122Y) Mutant Upsets Kir2.1-PIP2 Bonds and Is Arrhythmogenic in Andersen-Tawil Syndrome
- Functional and in silico analysis of ATP8A2 and other P4-ATPase variants associated with human genetic diseases
- Functional and In-silico analysis of ATP8A2 and other P4-ATPase variants associated with human genetic diseases
- Germline MYOF1::WNK4 and VPS25::MYOF1 Chimeras Generated by the Constitutional Translocation t(17;19)(q21;p13) in Two Siblings With Myelodysplastic Syndrome
- Intubation Decision Based on Illness Severity and Mortality in COVID-19: An International Study
- Investigation of luteal HCG supplementation in GnRH-agonist-triggered fresh embryo transfer cycles: a randomized controlled trial
- PDP type brain tumor in association with multiple endocrine neoplasia type 1
- Phenotypic Variability of Andersen-Tawil Syndrome Due to Allelic Mutation c.652C>T in the KCNJ2 Gene-A New Family Case Report
- Transcriptome and open chromatin analysis reveals the process of myocardial cell development and key pathogenic target proteins in Long QT syndrome type 7
- Understanding the uptake and determinants of prevention of mother-to-child transmission of HIV services in East Africa: Mixed methods systematic review and meta-analysis
- Upper Airway Epithelial Tissue Transcriptome Analysis Reveals Immune Signatures Associated with COVID-19 Severity in Ghanaians
- Using a data-driven approach to define post-COVID conditions in US electronic health record data
- Whole genome-wide sequence analysis of long-lived families (Long-Life Family Study) identifies MTUS2 gene associated with late-onset Alzheimer's disease