• A Critical Examination of the Clinical Diagnosis of Functional Tic-like Behaviors
• A registry-based study on universal screening for defective mismatch repair in colorectal cancer in Denmark highlights disparities in screening uptake and counselling referrals
• Andersen-Tawil syndrome
• Body mass index stratified meta-analysis of genome-wide association studies of polycystic ovary syndrome in women of European ancestry
• Clinical practice guidelines for the care of girls and women with Turner syndrome
• 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
• European survey of diagnosis and management of the polycystic ovary syndrome: full report on the ESE PCOS Special Interest Group's 2023 Questionnaire
• 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
• Further delineation of short-chain enoyl-CoA hydratase deficiency in the Pacific population
• Germline MYOF1::WNK4 and VPS25::MYOF1 Chimeras Generated by the Constitutional Translocation t(17;19)(q21;p13) in Two Siblings With Myelodysplastic Syndrome
• How to manage patients with germline <em>DDX41</em> variants: Recommendations from the Nordic working group on germline predisposition for myeloid neoplasms
• Increased myeloid-derived suppressor cell activation in clonal cytopenia of undetermined significance and low-risk 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
• Long-Term Incidence of Bradycardia and Pacemaker Implantations Among Cross-Country Skiers: A Cohort Study
• Maternal opioid use during pregnancy and the risk of neonatal opioid withdrawal syndrome in the offspring
• PDP type brain tumor in association with multiple endocrine neoplasia type 1
• Pediatric and Familial Genetic Arrhythmia Syndromes-Evaluation of Prolonged QTc-Differential Diagnosis and what You Need to Know
• Pediatric neuromuscular channelopathies
• Phenotypic Variability of Andersen-Tawil Syndrome Due to Allelic Mutation c.652C>T in the KCNJ2 Gene-A New Family Case Report
• Prospective risk of Type 2 diabetes in 99 892 Nordic women with polycystic ovary syndrome and 446 055 controls: national cohort study from Denmark, Finland, and Sweden
• Rare Presentation of Wide QRS Tachycardia in a Patient in Their 40s
• Relevant obstetrics outcomes and gynecology-related clinical data on Andersen-Tawil syndrome
• Staged repair of borderline hypoplastic heart disease with early biventricular conversion
• Subjective sleep assessment in individuals with SYNGAP1-associated syndrome
• 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
• Well-differentiated G1 and G2 pancreatic neuroendocrine tumors: a meta-analysis of published expanded DNA sequencing data
• Whole genome-wide sequence analysis of long-lived families (Long-Life Family Study) identifies MTUS2 gene associated with late-onset Alzheimer's disease