LRP4-Related Lethal Syndromic Form of Syndactyly in Limousin Cattle.

West Nile Virus Lineage 2 Neuroinvasive Infection Presenting as Intraparenchimal Cerebral Hemorrage.

Cardiac Tamponade and Arrest Secondary to Simultaneous Gastric and Sigmoid Volvulus With Sigmoid Obstruction From an Incarcerated Left Inguinal Hernia.

Repurposing Alkylating Agents in Melanoma via ERCC8 Silencing: A Novel Therapeutic Strategy.

Hemoglobin Bart's disease and the Agrinio mutation: A case report of successful fetal intervention.

Survival Following a Tricyclic Antidepressant Overdose Presenting With Serotonin Syndrome-Like Symptoms and Critical Illness Polyneuropathy: A Case Report.

[Gender-Specific Lethality in Myocardial Infarction: A Regional and Temporal Analysis].

Sirenomelia With Complete Caudal Regression in a Preterm Infant Born to a Mother With Poorly Controlled Type 1 Diabetes Mellitus: A Case Report on Clinical Presentation and Perinatal Management Challenges.

Coronary Artery Vasospasm Presenting as Non-ST Segment Elevation Myocardial Infarction in a Nigerian Female: A Case Report.

Dysregulated proteolytic cascades in Netherton syndrome: from molecular pathology to preclinical drug testing.

Inhibitory effects of molnupiravir on Crimean-Congo hemorrhagic fever virus polymerase.

Hemophagocytic Lymphohistiocytosis (HLH) or Macrophage Activation Syndrome (MAS)? A Lethal Case of Malignancy-Associated Hemophagocytic Lymphohistiocytosis in a Patient With Concurrent Autoimmune Disease.

Quality Assessment of Shock Videos on Video Sharing Platforms: Cross-Sectional Study.

Case of a Male Patient With Focal Dermal Hypoplasia (Goltz Syndrome), Esophageal Polyps, Scoliosis, and Bicuspid Aortic Valve.

Immune Effector Cell-Associated Neurotoxicity Syndrome: A Practical Overview for the General Neurologist.

Meta-Analysis of the Influence of Integrated Traditional Chinese and Western Medicine on Cognitive Dysfunction After Hypertensive Intracerebral Hemorrhage.

Malignant Right Atrial Mass With Inferior Vena Cava Extension Presenting as Budd-Chiari Syndrome: A Multimodality Imaging Case Report.

Wounded Glioma Syndrome: A Case Report With Narrative Review.

Two Chinese patients with Basilicata-Akhtar syndrome caused by novel MSL3 variants: a case report and literature review.

Clinical features of Marburg virus disease: a review of all reported patients since 1967.

Plaque, Prodromes, and Personalized Care: A Case Report Reframing Left Main Coronary Artery Occlusion in Females.

Mesenteric Ischemia and Bacterial Translocation Precipitate the Intoxication Phase of Yellow Fever.

Early Diagnosis of Streptococcal Toxic Shock Syndrome With Abdominal Computed Tomography: A Case Report.

Activation of Angiotensin-Converting Enzyme 2 Mitigates Gastrointestinal Acute Radiation Syndrome.

Pediatric primary intracranial Ewing's sarcoma involving cavernous sinus: an untamed evil.

Vitamin D Deficiency and Its Role in Pathologies of Oxidative Stress: A Literature Review.

A synonymous single nucleotide variant on the FAM20C gene causes non-lethal Raine syndrome.

Prenatal imaging diagnosis of iniencephaly apertus associated with heterotaxy syndrome, alobar holoprosencephaly and myelomeningocele: a case report.

Role of Ferroptosis in Alveolar Epithelial Cells in Acute Respiratory Distress Syndrome.

A New GlyT2 Variant Associated with Hyperekplexia.

An Unusual Case of Chronic Delimited Rhinosinusal Mucormycosis With Secondary Cutaneous Involvement in a Patient With Ataxia-Telangiectasia Syndrome.

QT Prolongation and Torsades De Pointes Due to Undiagnosed Sheehan Syndrome: A Rare Cause of Lethal Arrhythmia.

Functional rescue of a fatal ERAD mutation via alternative splicing.

Dephosphorylation of connexin 43 ratio in forensic autopsy cases of sudden cardiac death without coronary artery involvement: a marker of early ischemic injury in cardiomyocytes.

New Phenotypes Associated With Pathogenic RNASEH2B and SAMHD1 Variants.

De Novo Splice-Site Variant in DKC1 in a Female With Clinical Features of Hoyeraal-Hreidarsson Syndrome.

Marking over a century of Auer rods: An illustrated review of acute promyelocytic leukemia.

A Rare but Lethal Emergency: A Case Report on Boerhaave's Syndrome.

The molecular properties of the bHLH TCF4 protein as an intrinsically disordered hub transcription factor.

A novel NEK1 variant disturbs the interaction between the C-terminal fragment of NEK1 and the VDAC1 channel, causing lethal short-rib polydactyly syndrome.

COVID-19 infection and pulmonary sarcoidosis: a systematic review and meta-analysis of morbidity, severity and mortality.

Update on the management of acute liver failure.

Non-juvenile familial form of life-threatening arrhythmias caused by the Ryanodine Receptor type 2 c.13823 G>A, p.(Arg4608Gln) pathogenic variant: Atypical catecholaminergic polymorphic ventricular Tachycardia or misdiagnosis?

Biallelic variants in AGRN in a family with recurrent pregnancy losses and fetal akinesia deformation sequence.

Association between Free Tri-iodothyronine Level and In-Hospital Outcome in Patients with Acute ST-Elevation Myocardial Infarction Treated with Streptokinase Therapy.

Valentino's Syndrome in the Era of Advanced Imaging and Minimally Invasive Surgery.

Identification of a Founder GLDN Variant Associated With "Lethal" Arthrogryposis in Nunavik Inuit: Implications for Obstetrical and Long-Term Survivors' Management.

In situ right posterior sectionectomy during liver procurement based on preoperative 3D planning to prevent extreme large-for-size syndrome in adult-to-adult liver transplantation: a case report.

Analyzing IL-2-induced vascular leakage with an irAOP as tool.

Life-threatening complications in ophthalmic surgery: a systematic review.

Case Report: New phenotype of late-onset Stüve-Wiedemann syndrome due to a C-terminal variant in the LIFR gene.

Fatal Superior Vena Cava Obstruction With High-Output Chylothorax in a Preterm Infant: A Complication of Central Venous Catheterization.

Pulmonary hypertension in adults with congenital heart defects (ACHDs)-in light of the 2022 ESC PAH guidelines-part I: definition, epidemiology, classification, diagnostics, genetics, risk stratification and follow-up, gender aspects.

Wunderlich Syndrome With a Myriad of Presentations: A Case Series.

Homozygous synonymous FAM111A variant underlies an autosomal recessive form of Kenny-Caffey syndrome.

Case Report: A case of primary pericardial mesothelioma treated with multimodal combined therapy.

A Rare Case of Untreated Wilson's Disease in a Teen With Lethal Exit: Morphological Findings From an Autopsy Study.

A Sting in the Tale: Spurious Erythrocytosis Following Bee Stings Mimicking Gaisböck's Syndrome.

Biallelic TXNDC15 variants associated with Joubert syndrome-related molar tooth sign and forebrain malformation.

Basilicata-Akhtar Syndrome: Unraveling an Ultrarare Cause of Developmental Delay.

Influenza virus strains expressing SARS-CoV-2 receptor binding domain protein confer immunity in K18-hACE2 mice.

Unraveling Alpha-Gal Syndrome: A Case Study of a Rare Meat Allergy.

Loss of the long form of Plod2 phenocopies contractures of Bruck syndrome-osteogenesis imperfecta.

A Diagnostic Challenge: A Case of Disseminated Nocardiosis Presenting With Generalized Lymphadenopathy in a Patient With Interleukin-12 Deficiency.

The fully activated open state of KCNQ1 controls the cardiac "fight-or-flight" response.

Pregnancy Outcomes of Assisted Reproductive Technology (ART) Cycle Complicated by Ovarian Hyperstimulation Syndrome (OHSS): Case Series Study.

Combined Treatment of Severe Acute Respiratory Syndrome Coronavirus 2 Reduces Molnupiravir-Induced Mutagenicity and Prevents Selection for Nirmatrelvir/Ritonavir Resistance Mutations.

Clinical and genetic investigation of 14 families with various forms of short stature syndromes.

[Peripheral Neuropathy and Muscle Disorders as Immune-Related Adverse Events].

In vitro and in vivo antiviral effects of CLEVir-X against porcine reproductive and respiratory syndrome virus.

A review regarding the article 'Advances and Challenges in the Diagnosis and Management of Left Ventricular Noncompaction in Adults.'.

Comprehensive Analysis of Lung Adenocarcinoma and Brain Metastasis through Integrated Single-Cell Transcriptomics.

Whole-Exome Sequencing Identifies DYNC2H1 Mutations as a Cause of Jeune Asphyxiating Thoracic Dystrophy Without Extra-Skeletal Organ Involvement.

Lethal multiple pterygium syndrome, large cystic hygroma, and cleft palate: Rare and severe fetal presentations of RYR1- and NEB-related congenital myopathies.

The acute toxic effect of Chinese medicine Fuzi is exacerbated in kidney yang deficiency mice due to metabolic difference.

Identification of CCL20 as a Prognostic Predictor for Severe Fever With Thrombocytopenia Syndrome Based on Plasma Proteomics.

A Homozygous NDUFS6 Variant Associated with Neuropathy and Optic Atrophy.

AAV-mediated interneuron-specific gene replacement for Dravet syndrome.

A Study of the Toxic Effect of Plant Extracts against Philaenus spumarius (Hemiptera: Aphrophoridae).

Structural dynamics of the CROPs domain control stability and toxicity of Paeniclostridium sordellii lethal toxin.

WRN Is a Promising Synthetic Lethal Target for Cancers with Microsatellite Instability (MSI).

Proof of concept for monoclonal antibody therapy in a cellular model of acquired long QT syndrome type 3.

Dengue virus infection induces selective expansion of Vγ4 and Vγ6TCR γδ T cells in the small intestine and a cytokine storm driving vascular leakage in mice.

The nuclear cytokine IL-37a controls lethal cytokine storms primarily via IL-1R8-independent transcriptional upregulation of PPARγ.

Surfactant Deficiency Causing Severe Pneumonia in a Child.

A Systematic Review on Outcomes of Patients with Heatstroke and Heat Exhaustion.

PHGDH-related microcephalic dwarfism in two fetuses: Expanding the phenotypical spectrum of L-serine biosynthesis defect.

Case report: Exome sequencing revealed disease-causing variants in a patient with spondylospinal thoracic dysostosis.

[Large granular lymphocytic leukemia and its association with immune dysregulation].

The ever wider clinical spectrum of RMND1-related disorders and limitedness of phenotype-based classifications.

Suicide of an adolescent girl with sodium nitrite ordered on the internet.

[Malaria in 2022: clinical and therapeutic aspects].

A Single-Dose Intranasal Combination Panebolavirus Vaccine.

An in-depth appraisal of clinico-biochemical and radiological findings of COVID-19 patients during the COVID-19 pandemic in a dedicated COVID Care Hospital in Eastern India and its outcome in relation to the COVAXIN vaccination status: A 2-year study.

Defibrotide modulates pulmonary endothelial cell activation and protects against lung inflammation in pre-clinical models of LPS-induced lung injury and idiopathic pneumonia syndrome.

Phenylalanine promotes alveolar macrophage pyroptosis via the activation of CaSR in ARDS.

Safflor Yellow A Protects Beas-2B Cells Against LPS-Induced Injury via Activating Nrf2.

PRDM10 RCC: A Birt-Hogg-Dubé-like Syndrome Associated With Lipoma and Highly Penetrant, Aggressive Renal Tumors Morphologically Resembling Type 2 Papillary Renal Cell Carcinoma.

Suicide with oral midazolam: Postmortem toxicological investigations using Ostro® Plate and ultra-high performance liquid chromatography coupled to tandem mass spectrometry.

1-year survival in haemophagocytic lymphohistiocytosis: a nationwide cohort study from England 2003-2018.

Covid-19, HLA, and race common link: A novel hypothesis.

Polymorphic Ventricular Tachycardia Storm After Coronary Artery Bypass Graft Surgery: A Form of 'Angry Purkinje Syndrome'.

A new mouse model of ATR-X syndrome carrying a common patient mutation exhibits neurological and morphological defects.

Effect of Ethanol Vapor Inhalation Treatment on Lethal Respiratory Viral Infection With Influenza A.

The Sec1-Munc18 protein VPS33B forms a uniquely bidirectional complex with VPS16B.

Clinical heterogeneity of NADSYN1-associated VCRL syndrome.

Missense variant in RBM10 associated with mild and non-lethal form of TARP syndrome.

The Effectiveness of Parenting Programs in Preventing Abusive Head Trauma: A Systematic Review and Meta-Analysis.

Predicting the functional effect of compound heterozygous genotypes from large scale variant effect maps.

SAR based Review on Diverse Heterocyclic Compounds with Various Potential Molecular Targets in the Fight against COVID-19: A Medicinal Chemist Perspective.

Multi-ligand molecular docking, simulation, free energy calculations and wavelet analysis of the synergistic effects between natural compounds baicalein and cubebin for the inhibition of the main protease of SARS-CoV-2.

Biochemical characterization of two novel mutations in the human high-affinity choline transporter 1 identified in a patient with congenital myasthenic syndrome.

Delayed Hypersensitivity Reaction to Iodinated-Contrast Following Lumbar Epidural Steroid Injection: Case Report.

Coordinated cadherin functions sculpt respiratory motor circuit connectivity.

WRN helicase and mismatch repair complexes independently and synergistically disrupt cruciform DNA structures.

Chromosome-dependent aneuploid formation in Spo11-less meiosis.

Solutions to fire and shade: resprouting, growing tall and the origin of Eurasian temperate broadleaved forest.

Pre-exposure prophylaxis with tixagevimab/cilgavimab (AZD7442) prevents severe SARS-CoV-2 infection in recipients of allogeneic hematopoietic stem cell transplantation during the Omicron wave: a multicentric retrospective study of SFGM-TC.

Characterization of a novel deep-intronic variant in DYNC2H1 identified by whole-exome sequencing in a patient with a lethal form of a short-rib thoracic dysplasia type III.

The Effect of Hydroquinidine on Proliferation and Apoptosis of TMZ-sensitive and -resistant GBM Cells.

Impact of Vaccination, Prior Infection, and Therapy on Omicron Infection and Mortality.

Lemierre's Syndrome: A Lethal Complication of Acute Tonsillitis.

Highly soluble and stable 'insertion domain' of the capsid penton base protein provides complete protection against infections caused by fowl adenoviruses.

Clinical Profile and Outcomes of Multisystem Inflammatory Syndrome in Children: A Multicentric Observational Study.

Rapid Generation of Circulating and Mucosal Decoy Human ACE2 using mRNA Nanotherapeutics for the Potential Treatment of SARS-CoV-2.

Structure of the SHOC2-MRAS-PP1C complex provides insights into RAF activation and Noonan syndrome.

Impaired Dynamic Sarcoplasmic Reticulum Ca Buffering in Autosomal Dominant CPVT2.

Celastrol: A lead compound that inhibits SARS-CoV-2 replication, the activity of viral and human cysteine proteases, and virus-induced IL-6 secretion.

NPHP3 splice acceptor site variant is associated with infantile nephronophthisis and asphyxiating thoracic dystrophy; A rare combination.

Role of aging in Blood-Brain Barrier dysfunction and susceptibility to SARS-CoV-2 infection: impacts on neurological symptoms of COVID-19.

Two small-molecule activators share similar effector sites in the KCNQ1 channel pore but have distinct effects on voltage sensor movements.

Anaphylaxis: An Uncommon Cause of Rhabdomyolysis-Related Acute Kidney Injury.

Point-specific interactions of isovitexin with the neighboring amino acid residues of the hACE2 receptor as a targeted therapeutic agent in suppressing the SARS-CoV-2 influx mechanism.

Progressive Respiratory Insufficiency in a Teenager with Diaphragmatic Hypomotility Due to a Novel Combination of Gliomedin Gene Variants.

Animal models of pediatric abusive head trauma.

Current Systemic Treatments for the Hereditary Cancer Syndromes: Drug Development in Light of Genomic Defects.

A Case of Delayed COVID-19-Related Macrophage Activation Syndrome.

Management of oral mucosal lesions in salicylate sensitive stevens-Johnson syndrome - A case report.

Vagus nerve stimulation for conservative therapy-refractive epilepsy and depression.

Nlrp3 inflammasome activation in macrophages suffices for inducing autoinflammation in mice.

Bi-allelic MYH3 loss-of-function variants cause a lethal form of contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B.

The Impact of the Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) Pandemic on Substance Use in the United States.

Insights into forsythia honeysuckle (Lianhuaqingwen) capsules: A Chinese herbal medicine repurposed for COVID-19 pandemic.

Neonatal Arterial Tortuosity and Adult Aortic Aneurysm-Is There a Missing Link?-A Case Report.

Involvement of muscle satellite cell dysfunction in neuromuscular disorders: Expanding the portfolio of satellite cell-opathies.

Cardiac involvement in pediatric hemolytic uremic syndrome.

Overview of the 2022 WHO Classification of Paragangliomas and Pheochromocytomas.

Malaria Related Neurocognitive Deficits and Behavioral Alterations.

Dichotomous Role of Tumor Necrosis Factor in Pulmonary Barrier Function and Alveolar Fluid Clearance.

Antiviral therapy for COVID-19: Derivation of optimal strategy based on past antiviral and favipiravir experiences.

Brief Report: Rapid Clinical Recovery From Critical Coronavirus Disease 2019 With Respiratory Failure in a Pregnant Patient Treated With IV Vasoactive Intestinal Peptide.

A New Oxadiazole-Based Topsentin Derivative Modulates Cyclin-Dependent Kinase 1 Expression and Exerts Cytotoxic Effects on Pancreatic Cancer Cells.

Orthorectification of Skin Nevi Images by Means of 3D Model of the Human Body.

Acute lung injury secondary to hydrochloric acid instillation induces small airway hyperresponsiveness.

Fatal Neonatal DOLK-CDG as a Rare Form of Syndromic Ichthyosis.

The Role of Cardiovascular Surgery in the Management of a Patient Diagnosed With Congenital Cutis Laxa Syndrome Complicated by Multivalvular Heart Disease.

Longitudinal Analysis of Memory T-Cell Responses in Survivors of Middle East Respiratory Syndrome.

Care Pathway for Foetal Joint Contractures, Foetal Akinesia Deformation Sequence, and Arthrogryposis Multiplex Congenita.

ATM Kinase Dead: From Ataxia Telangiectasia Syndrome to Cancer.

Do Not Miss the (Genetic) Diagnosis of Gaucher Syndrome: A Narrative Review on Diagnostic Clues and Management in Severe Prenatal and Perinatal-Lethal Sporadic Cases.

Clinical variability at the mild end of BRAT1-related spectrum: Evidence from two families with genotype-phenotype discordance.

Giant Cell Myocarditis in Children: Elusive Giant Cells Might Not Be the Only Clue.

A frameshift insertion in FA2H causes a recessively inherited form of ichthyosis congenita in Chianina cattle.

Antibody-dependent cellular cytotoxicity response to SARS-CoV-2 in COVID-19 patients.

B3GAT3-related linkeropathy and an in-frame homozygous deletion in an adult patient.

The Spread of Spectrin in Ataxia and Neurodegenerative Disease.

Polymorphic Ventricular Tachycardia: Terminology, Mechanism, Diagnosis, and Emergency Therapy.

[Meningeal tuberculosis: cases report years 2005-2017].

Analysis of COVID-19 pandemics in Kazakhstan.

The Clinical and Genotypic Spectrum of Scoliosis in Multiple Pterygium Syndrome: A Case Series on 12 Children.

Compound Heterozygous Variants in FAM111A Cause Autosomal Recessive Kenny-Caffey Syndrome Type 2.

ADAR1 interaction with Z-RNA promotes editing of endogenous double-stranded RNA and prevents MDA5-dependent immune activation.

Assessment Framework for Recognizing Clinical Deterioration in Patients With ACS Undergoing PCI.

The impact of coal combustion, nitrous oxide emissions, and traffic emissions on COVID-19 cases: a Markov-switching approach.

Combined glucocorticoid resistance and hyperlactatemia contributes to lethal shock in sepsis.

Post-translational formation of hypusine in eIF5A: implications in human neurodevelopment.

Fatores associados ao óbito em casos confirmados de COVID-19 no estado do Rio de Janeiro.

Non-lethal Raine Syndrome Report Lacking Characteristic Clinical Features.

Acute impending compartment syndrome during elective spine surgery: a rare occurrence.

Central catecholaminergic blockade with clonidine prevent SARS-CoV-2 complication: A case series.

microRNA Heterogeneity, Innate-Immune Defense and the Efficacy of SARS-CoV-2 Infection-A Commentary.

Plasma ACE2 species are differentially altered in COVID-19 patients.

Mechanism of disease and therapeutic rescue of Dok7 congenital myasthenia.

The SARS-CoV-2 spike protein subunit S1 induces COVID-19-like acute lung injury in Κ18-hACE2 transgenic mice and barrier dysfunction in human endothelial cells.

Cardiolipin Remodeling Defects Impair Mitochondrial Architecture and Function in a Murine Model of Barth Syndrome Cardiomyopathy.

Efficacy of RyR2 inhibitor EL20 in induced pluripotent stem cell-derived cardiomyocytes from a patient with catecholaminergic polymorphic ventricular tachycardia.

Capillary leak syndrome: State of the art in 2021.

High Flexibility of RNaseH2 Catalytic Activity with Respect to Non-Canonical DNA Structures.

Successful rescue of a lethal Griscelli syndrome type 2 presenting with neurological involvement and hemophagocytic lymphohistiocytosis: a case report.

Preventing abusive head trauma: can educating parents reduce the incidence?

Occipital Horn Syndrome as a Result of Splice Site Mutations in ATP7A. No Activity of ATP7A Splice Variants Missing Exon 10 or Exon 15.

β-d-N4-hydroxycytidine Inhibits SARS-CoV-2 Through Lethal Mutagenesis But Is Also Mutagenic To Mammalian Cells.

A novel RLIM/RNF12 variant disrupts protein stability and function to cause severe Tonne-Kalscheuer syndrome.

Broad-Spectrum Antiviral Strategies and Nucleoside Analogues.

A novel soluble ACE2 protein totally protects from lethal disease caused by SARS-CoV-2 infection.

Assembly assay identifies a critical region of human fibrillin-1 required for 10-12 nm diameter microfibril biogenesis.

Encephalitis Induced by Immune Checkpoint Inhibitors: A Systematic Review.

COVID-19 and cytokine storm syndrome: are there lessons from macrophage activation syndrome?

Functional genomics screen identifies proteostasis targets that modulate prion protein (PrP) stability.