• <em>MED12</em>-Related (Neuro)Developmental Disorders: A Question of Causality
• 7.0T cardiac magnetic resonance imaging of right ventricular function in rats with high-altitude deacclimatization
• A Case Report of a Feto-Placental Mosaicism Involving a Segmental Aneuploidy: A Challenge for Genome Wide Screening by Non-Invasive Prenatal Testing of Cell-Free DNA in Maternal Plasma
• A de novo splice site mutation in CASK causes FG syndrome-4 and congenital nystagmus
• A male infant with Xq22.2q22.3 duplication containing PLP1 and MID2
• A molecular basis for tetramer destabilization and aggregation of transthyretin Ala97Ser
• A novel de novo variant in CASK causes a severe neurodevelopmental disorder that masks the phenotype of a novel de novo variant in EEF2
• A Novel Genetic Variant in the WFS1 Gene in a Patient with Partial Uniparental Mero-Isodisomy of Chromosome 4
• A novel MED12 mutation: Evidence for a fourth phenotype
• A novel missense variant in the CASK gene causes intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia
• A novel mutation in MED12 causes FG syndrome (Opitz-Kaveggia syndrome)
• A novel variant in MED12 gene: Further delineation of phenotype
• A sensitive triple nanoparticle-assisted PCR assay for detection of fowl adenovirus, infectious bursal disease virus and chicken anemia virus
• Activating RNAs associate with Mediator to enhance chromatin architecture and transcription
• Algorithm to improve the diagnosis of paraneoplastic neurological syndromes associated with SOX1 antibodies
• Association between daily number of eating occasions with fasting glucose and insulin sensitivity in adults from families at high risk for type 2 diabetes in Europe: the Feel4Diabetes Study
• Association of muscle strength and body mass index with risk factors for metabolic syndrome and its prevalence in Korean adult women
• Behavior of 10 patients with FG syndrome (Opitz-Kaveggia syndrome) and the p.R961W mutation in the MED12 gene
• Behavioral features in young adults with FG syndrome (Opitz-Kaveggia syndrome)
• Blepharophimosis, short humeri, developmental delay and hirschsprung disease: expanding the phenotypic spectrum of MED12 mutations
• Buried bumper syndrome: improving patient outcomes using a structured multidisciplinary team (MDT) approach to management
• C-Reactive Protein versus Erythrocyte Sedimentation Rate: Implications Among Patients with No Known Inflammatory Conditions
• Carbon nanotube field-effect transistor (CNT-FET)-based biosensor for rapid detection of SARS-CoV-2 (COVID-19) surface spike protein S1
• Cardiovascular risk factors, exercise capacity and health literacy in patients with chronic ischaemic heart disease and type 2 diabetes mellitus in Germany: Baseline characteristics of the Lifestyle Intervention in Chronic Ischaemic Heart Disease and Type
• Case 294: Catastrophic Antiphospholipid Syndrome
• Cerebral venous sinus thrombosis (CVST) associated with SARS-CoV-2 vaccines: clues for an immunopathogenesis common to CVST observed in COVID-19
• Clinical and neurocognitive characterization of a family with a novel MED12 gene frameshift mutation
• Clinical Experience with Genome-Wide Noninvasive Prenatal Screening in a Large Cohort of Twin Pregnancies
• Clinical, Pathophysiologic, Genetic, and Therapeutic Progress in Primary Bilateral Macronodular Adrenal Hyperplasia
• Comparing Digital Therapeutic Intervention with an Intensive Obesity Management Program: Randomized Controlled Trial
• De novo loss-of-function variants in X-linked MED12 are associated with Hardikar syndrome in females
• De novo mutations in genes of mediator complex causing syndromic intellectual disability: mediatorpathy or transcriptomopathy?
• Development and Application of Loop-Mediated Isothermal Amplification (LAMP) Assays for Rapid Diagnosis of the Bat White-Nose Disease Fungus Pseudogymnoascus destructans
• Diagnostic Instability Over Time in the Late-Onset Frontal Lobe Syndrome: When Can We Say it's FTD?
• Dynamics of the Enteric Virome in a Swine Herd Affected by Non-PCV2/PRRSV Postweaning Wasting Syndrome
• Early Convalescent Plasma for High-Risk Outpatients with Covid-19
• Early IFNβ secretion determines variable downstream IL-12p70 responses upon TLR4 activation
• Early reduction of estimated Glomerular Filtration Rate (eGFR) predicts poor outcome in acutely ill hospitalized COVID-19 patients firstly admitted to medical regular wards (eGFR-COV19 study)
• EFFECTS OF ALPHA-LIPOIC ACID ON GLYCEMIC STATUS IN 2 TYPE DIABETES PATIENTS WITH СHRONIC CORONARY SYNDROME
• Effects of Hormonal Profile, Weight, and Body Image on Sexual Function in Women with Polycystic Ovary Syndrome
• Efficacy, pharmacokinetics, and safety in the mouse and primate retina of dual AAV vectors for Usher syndrome type 1B
• Efficiency of Hyperbaric Oxygen Therapy Combined with Negative-Pressure Wound Therapy in the Treatment Strategy of Fournier's Gangrene -A Retrospective Study
• Electrochemical biosensing platform based on hydrogen bonding for detection of the SARS-CoV-2 spike antibody
• Electrochemical biosensor for nucleic acid amplification-free and sensitive detection of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) RNA via CRISPR/Cas13a trans-cleavage reaction
• Emerging role of non-coding RNA in health and disease
• Evaluating mismatch repair deficiency in colorectal cancer biopsy specimens
• Evaluation of mRNA-1273 Vaccine in Children 6 Months to 5 Years of Age
• Eye and ocular adnexa manifestations of <em>MED12</em>-related disorders
• Ferric Carboxymaltose and Erythropoiesis-Stimulating Agent Treatment Reduces the Rate of Blood Transfusion in Refractory Anemia
• FG syndrome: the FGS2 locus revisited
• Fluorogenic <em>in vitro</em> activity assay for the main protease M^pro from SARS-CoV-2 and its adaptation to the identification of inhibitors
• Four weeks of spice consumption lowers plasma proinflammatory cytokines and alters the function of monocytes in adults at risk of cardiometabolic disease: secondary outcome analysis in a 3-period, randomized, crossover, controlled feeding trial
• Fruquintinib versus placebo in patients with refractory metastatic colorectal cancer (FRESCO-2): an international, multicentre, randomised, double-blind, phase 3 study
• Genitourinary anomalies of pediatric FG syndrome
• Genotype-Phenotype Correlation of <em>SCN5A</em> Genotype in Patients With Brugada Syndrome and Arrhythmic Events: Insights From the SABRUS in 392 Probands
• Germline <em>NUP98</em> Variants in Two Siblings with a Rothmund-Thomson-Like Spectrum: Protein Functional Changes Predicted by Molecular Modeling
• GRAd-COV2 vaccine provides potent and durable humoral and cellular immunity to SARS-CoV-2 in randomized placebo-controlled phase 2 trial
• Hantaviruses in Agricultural and Forestry Workers: Knowledge, Attitudes and Practices in Italian Physicians
• Identification of Pathogenic Mutations in Primary Microcephaly- (MCPH-) Related Three Genes <em>CENPJ</em>, <em>CASK</em>, and <em>MCPH1</em> in Consanguineous Pakistani Families
• Immune Mechanisms in Epileptogenesis: Update on Diagnosis and Treatment of Autoimmune Epilepsy Syndromes
• Impact of Tamoxifen on Vorinostat-Induced Human Immunodeficiency Virus Expression in Women on Antiretroviral Therapy: AIDS Clinical Trials Group A5366, The MOXIE Trial
• Inhaled Sargramostim (Recombinant Human Granulocyte-Macrophage Colony-Stimulating Factor) for COVID-19-Associated Acute Hypoxemia: Results of the Phase 2, Randomized, Open-Label Trial (iLeukPulm)
• Interaction of panduratin A and derivatives with the SARS-CoV-2 main protease (m^pro): a molecular docking study
• Janus kinase inhibitors for the treatment of COVID-19
• Levosimendan in intensive care and emergency medicine: literature update and expert recommendations for optimal efficacy and safety
• Lung Abnormalities Detected with Hyperpolarized ¹²⁹Xe MRI in Patients with Long COVID
• Mandate or Not Mandate: Knowledge, Attitudes, and Practices of Italian Occupational Physicians towards SARS-CoV-2 Immunization at the Beginning of Vaccination Campaign
• MED12 missense mutation in a three-generation family. Clinical characterization of MED12-related disorders and literature review
• MED12 Mutation in Two Families with X-Linked Ohdo Syndrome
• MED12 mutations in human diseases
• MED12 related disorders
• Metabolic Profile and Bone Status in Post-Menopausal Women with Rheumatoid Arthritis: A Monocentric Retrospective Survey
• Micronutrients to Support Vaccine Immunogenicity and Efficacy
• Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes
• MODUL cohort 2: an adaptable, randomized, signal-seeking trial of fluoropyrimidine plus bevacizumab with or without atezolizumab maintenance therapy for BRAF^wt metastatic colorectal cancer
• Mosaic genome-wide paternal uniparental disomy after discordant results from primary fetal samples and cultured cells
• Myocardial Late Contrast Enhancement CT in Troponin-Positive Acute Chest Pain Syndrome
• Nationwide analysis of incidence and predictors of 30-day readmissions in patients with decompensated cirrhosis
• Novel characterization of <em>CASK</em> variant <em>c.1963 A&gt;G (p.Asn655Asp)</em> through whole-exome sequencing in a monochorionic diamniotic twin fetus with significant brain anomalies: A case report
• Nutripedia: The Fight against the Fake News in Nutrition during Pregnancy and Early Life
• One master and two servants: One Zr(Ⅳ) with two ligands of TCPP and NH₂-BDC form the MOF as the electrochemiluminescence emitter for the biosensing application
• Pharmacological Inhibition of the Voltage-Gated Sodium Channel Na_V1.7 Alleviates Chronic Visceral Pain in a Rodent Model of Irritable Bowel Syndrome
• Population Genomic Screening for Three Common Hereditary Conditions : A Cost-Effectiveness Analysis
• Ramadan Fasting Improves Body Composition without Exacerbating Depression in Males with Diagnosed Major Depressive Disorders
• Remdesivir for the treatment of COVID-19
• SARS-CoV-2 Nucleocapsid Plasma Antigen for Diagnosis and Monitoring of COVID-19
• Screening of potent neutralizing antibodies against SARS-CoV-2 using convalescent patients-derived phage-display libraries
• Significance of serum VIP and PACAP in multiple sclerosis: an exploratory case-control study
• Size-controlling preparation of covalent organic framework nanospheres for electrochemical impedimetric aptasensing of oxytetracycline
• Sleep Apnea and Incident Unprovoked Venous Thromboembolism: Data from the Pays de la Loire Sleep Cohort
• Surface-enhanced Raman scattering-based immunoassay for severe acute respiratory syndrome coronavirus 2
• The effect of metformin and myoinositol on metabolic outcomes in women with polycystic ovary syndrome: role of body mass and adiponectin in a randomized controlled trial
• THE EFFECT OF MYOINOSITOL AND METFORMIN ON CARDIOVASCULAR RISK FACTORS IN WOMEN WITH POLYCYSTIC OVARY SYNDROME: A RANDOMIZED CONTROLLED TRIAL
• The FG syndrome from a pathological perspective
• The Hyperphagia Questionnaire: Insights From a Multicentric Validation Study in Individuals With Prader Willi Syndrome
• The Relationship between the Dietary Inflammatory Index (DII) and Metabolic Syndrome (MetS) in Middle-Aged and Elderly Individuals in the United States
• Two male sibs with severe micrognathia and a missense variant in MED12
• Two pan-SARS-CoV-2 nanobodies and their multivalent derivatives effectively prevent Omicron infections in mice
• When to Suspect Hidden Hypercortisolism in Type 2 Diabetes: A Meta-Analysis
• Whole exome sequencing identifies monogenic forms of nephritis in a previously unsolved cohort of children with steroid-resistant nephrotic syndrome and hematuria