Clinical and genetic basis of congenital gonadotropin deficiency.

Effect of Lee Silverman Voice Treatment-BIG Intervention Versus Balance Training via Tele-rehabilitation on Balance and Functional Mobility Among Community-Dwelling Elderly: A Comparative Study.

Enhanced P-TEFb activity compromises dentate gyrus neurogenesis in mice.

Development of metabolic syndrome by increasingly fructose-enriched water in Wistar rats.

Tyrosine Hydroxylase Deficiency Impairs TH Axonal Transport, Brain Function, and Neuronal Plasticity.

Second allogeneic stem cell transplantation for XMEN disease.

ASPH-related ectopia lentis revisited: genetic variability, clinical diversity, and evolving therapeutic approaches.

Clinical Diversity in Currarino Syndrome: Insights From Monozygotic Twins and a Single-Center Retrospective Study.

Artificial Intelligence Applications in COVID-19-Associated Coagulopathy: Lessons Learned.

Targeted repair of a refractory ventral cerebrospinal fluid leak identified by dynamic computed tomography myelography: illustrative case.

Respiratory syncytial virus - from discovery to vaccines.

Pediatric Myasthenia Gravis.

Update on Congenital Cranial Dysinnervation Disorders (CCDDs).

Congenital Optic Nerve Anomalies and Associated Systemic Conditions.

Tailored Charles' Procedure and Vascularized Lymph Node Transfer for Advanced Stage Klippel-Trenaunay Syndrome.

Ovarian Hormones Moderate Systolic Hypertension in Female Eln Haploinsufficient Mice.

First Generation Proteolysis Targeting Chimeras (PROTACs) for the Treatment of Progeria.

Unexpected detection of clear cell sarcoma of soft tissue during single-channel endoscopic carpal tunnel release for recurrent carpal tunnel syndrome: a case report with literature review.

Trousseau's syndrome with cerebral infarction as the first manifestation.

Dyskerin dysfunction in cancer development: from telomere dysregulation to immune deficiency.

Ovarian Sertoli-Leydig cell tumors with somatic DICER1 mutations: a clinicopathologic study of 15 cases.

MUTYH cancer-associated variants within the interdomain connector differentially impact glycosylase activity and cellular DNA repair.

Genetic phenotypic characteristics and inheritance patterns of patients with achromatopsia at a large academic institution and a review of the literature and gene therapies.

Case Report: Maculopathy following standard dose intracameral cefuroxime injection during ICL surgery.

Overcoming Complexity: Percutaneous Embolization for Hepatic Artery Pseudoaneurysms in Hereditary Hemorrhagic Telangiectasia (HHT).

Novel PCDH12 pathogenic missense variants cause neurodevelopmental disorders with ocular malformation.

Recovery trajectories of TAFRO syndrome: a single-center case series highlighting prolonged thrombocytopenia and anasarca.

Craniospinal cerebrospinal fluid volume changes after extreme bilateral frontotemporoparietal craniectomy and cranioplasty: a volumetric magnetic resonance imaging case report.

Effects of craniectomy on cerebrospinal fluid pressure gradient in the craniospinal space in different body positions of cats.

Complex Genetic Architecture in RASopathies: Constitutional PTPN11 and Mosaic RIT1 Pathogenic Variants Underlying Severe Noonan Syndrome With Adult-Onset Acute Myeloid Leukemia.

Reporting a Novel Disease Causing Variant in PGAP3 Associated With Hyperphosphatasia and Intellectual Disability: A Case Report and Comprehensive Literature Review.

[A case of left ventricular apical hypoplasia].

Therapeutic Plasma Exchange for Uncontrollable Bleeding After Platelet Inhibition with Ticagrelor: A Report of 2 Cases.

KCNH2 Duplication Variant (c.2164_2181dup) Associated with Sudden Cardiac Death in a Family with Congenital Long QT Syndrome.

The pathogenic ADAMTSL2 D167N variant causes geleophysic dysplasia-like connective tissue changes in mice.

Pulses That Predict: Postoperative Perfusion Index and Outcomes in High-risk Pediatric Cardiac Surgery.

Prevalence and Risk of Falls and Fractures in the Idiopathic Inflammatory Myopathies: A Cross-Sectional Study of 470 Patients.

Short-, Medium-, and Long-Term Cardiometabolic Outcomes in First-Episode Psychosis: A Systematic Review and Meta-analysis.

Robo2-Nrxn3 Deficiency: A Molecular Hub Linking Excitation-Inhibition Imbalance to the Pathogenesis of Schizophrenia.

Double Jeopardy - A Case of Overlapping Takotsubo Syndrome and Spontaneous Coronary Dissection.

The 10- to 23-Year Outcomes of Cemented Total Hip Arthroplasty Utilizing Impaction Bone Grafting for Severe Acetabular Bone Defects in Osteoarthritis and Rheumatoid Arthritis.

A High-Potency Protein That Normalizes Body Weight in DIO Mice through Triple Agonism at FGF21, GLP1, and GIP Receptors.

Immune mechanisms of congenital Zika syndrome.

Recessive Loss of DIAPH1 Function Causes a Progressive Neurodevelopmental Syndrome with Variable Immunological Involvement.

Partial Anomalous Pulmonary Venous Return in Lung Cancer Surgery: Diagnostic Challenges and Surgical Considerations in Two Cases.

Epidemiological Risk Factor Analysis for Maternal Mortality Associated with Eclampsia: A Single-Center Study from Tertiary Hospital Garut.

Multiple primary melanomas with numerous pink-to-tan papules and polydactylous onychopapillomas.

Established and emerging non-cellular therapies in inherited bone marrow failure syndromes.

Case Report: a 28-year-old female patient presented with recurrent fevers and episodes of shock due to ZBTB24 pathogenic variant.

An Unusual Mid-Ventricular Takotsubo Cardiomyopathy: A Case Report.

Nonatherosclerotic Subclavian Steal Syndrome Due to Brachiocephalic Trunk Kinking in an Elderly Woman: A Case Report.

Hemoglobinuria-associated acute kidney injury in hemolytic uremic syndrome without renal thrombotic microangiopathy.

Znhit3 regulates p53/p21 signaling and governs cerebellar granule cell development.

IVNS1ABP mutation drives cellular senescence in newly identified progeroid neuropathy.

Fetal Fentanyl Syndrome: An Opportunity to Quantify the Risk in Prospective Cohorts of Patients With Substance Use Disorder.

Terlipressin Therapy for Portal Hyperperfusion Secondary to Portal Vein Size Discrepancy After Pediatric Liver Transplant.

Beyond the tear: the enduring role of aortic pathology in the era of genomic medicine.

[Mutation characteristics and prognosis of patients with Fanconi anemia signaling pathway gene mutation myeloproliferative neoplasm].

Mycophenolate mofetil versus prednisone for the initial treatment of idiopathic steroid-sensitive nephrotic syndrome in children in Germany (INTENT): a multicentre, open-label, randomised, controlled, parallel-group, non-inferiority, phase 3 trial.

Transplantation of encapsulated mitochondria alleviates dysfunction in mitochondrial and Parkinson's disease models.

SUN5 forms a regular protein lattice reinforcing the sperm head-tail junction.

Aberrant multicellular interferon signaling underlies Adar1 mutation-driven Aicardi-Goutières syndrome-like encephalopathy.

The Lateral Alignment Angle: A Novel Method for Evaluating Lateral Patellar Tilt With High Accuracy, Good Reproducibility, and Independence From Patellofemoral Joint Morphology.

Semi-quantitative analyses of muscle magnetic resonance imaging for pattern recognition in early idiopathic inflammatory myopathies.

Danon Disease Diagnosed by Multimodal Imaging.

Update on Alport Syndrome: The Report of the 2024 International Workshop on Alport Syndrome.

Chronic tramadol abuse as a cause of serotonin syndrome.

Psychiatric comorbidity in DiGeorge association: Suicidal ideation and bipolar disorder.

Case Report: Transient severe T cell lymphopenia in a patient with Cornelia de Lange Syndrome captured by TREC screening.

Triple-hit diffuse large B-cell lymphoma with choroidal and cavernous sinus involvement mimicking inflammatory and neuro-ophthalmic disease: case report.

Mavacamten Derivatives Significantly Ameliorate Lipopolysaccharide-Induced Acute Lung Injury, Partly by Modulating Nuclear Factor Kappa‑B Signaling.

Symptomatic improvement in fibromyalgia after treatment of comorbid attention deficit hyperactivity disorder: a case report.

Analysis of structure and conservation for supporting functional evaluation of PMS2 missense variants.

ARIAs are not random: A posterior and border-zone vascular vulnerability model.

Atypical Clinical Course of Griscelli Syndrome Type 2 With Primarily Neurologic Presentation and Adult-Onset in a 46-Year-Old Male.

Unmasking platypnoea-orthodeoxia syndrome: a systematic review of the pathophysiology, clinical spectrum and outcomes of percutaneous intracardiac shunt closure.

Genetic and phenotypic landscape of monogenic lupus: insights from an international cohort.

A Twist1-regulated distal enhancer crucial for Alx1 gene expression and function during craniofacial development.

Integrated molecular and clinical profiling of primary mitochondrial oxidative phosphorylation disorders in an Indian cohort: Insights from genetics, neuroimaging, and machine learning.

Beyond access: Uncovering hidden public health benefits of participating in experimental medicine trials through detection of clinically significant findings at screening.

Implications of Dermatologic Disorders in Facial Cosmetic Surgery: A Systematic Review.

Hydroxyl radical footprinting modification reveals an intradomain communication pathway in EFL1 disrupted by a Shwachman-Diamond syndrome-associated mutation.

46,XY differences of sex development in pontocerebellar hypoplasia type 7 (PCH7): two case reports and systematic review.

Polycystic ovary syndrome and risk of endometrial hyperplasia and endometrial cancer in women with abnormal uterine bleeding: A systematic review and meta-analysis.

Disturbed mitochondrial maturation in cardiolipin remodeling-deficient cardiomyocytes.

Network toxicology and single-cell analysis reveal key gene-mediated bisphenol a interference with granulosa cell function in polycystic ovary syndrome.

Acute Myocardial Infarction Secondary to Triple Vessel Coronary Artery Disease in a 31-year-old Female with Systemic Lupus Erythematosus: Case Report and Review of Literature.

Three Yemeni Siblings With Johanson-Blizzard Syndrome: A Case Report and Literature Review.

[Effect of the Degree of Myelofibrosis on the Therapeutic Efficacy and Survival in Patients with Myelodysplastic Syndromes].

Aberrant Kupffer-like differentiation of hematopoietic stem cell is critical for the MDS pathogenesis in Setd2-deficient mice.

Targeted Management of Uveitis-Glaucoma-Hyphema Syndrome by Selective Haptic Removal: A Case Report.

Reperfusion of Retinal Arteriolar Occlusion After Initiation of Immunosuppressive Therapy in Pediatric Susac Syndrome.

Laparoscopic application of intraoperative fascial traction (fasciotensⓇHernia) during loss of domain scrotal hernia repair: A European multicenter case series with technical details and preliminary results.

Thymic epithelial tumors at the crossroads of immunity, autoimmunity, and immunotherapy.

A Novel MID1 Mutation Identified in a Patient With Craniofacial Anomalies and X-Linked Intellectual Disability.

Clinical and molecular findings in Cornelia de Lange syndrome. Case series.

Idiopathic Musical Ear Syndrome in a Young Adult: A Case Report and Therapeutic Response.

Prenatal sonographic features and outcomes of radial ray defects - a 14 case series with a literature review.

Efficacy of Solifenacin Combined with Biofeedback in Children with Neurogenic Detrusor Overactivity Caused by Primary Tethered Cord Syndrome.

Deficient Cardiolipin Remodelling Alters Muscle Fibre Composition and Neuromuscular Connectivity in Barth Syndrome.

Identification of a novel NSD1 pathogenic variant in a Senegalese child with Sotos syndrome.

Inherited disorders of granulopoiesis - understanding pathogenesis to advance new therapies.

Clinical, Neuroimaging and Video Electroencephalography Findings in Children With Congenital Zika Syndrome: An Analysis From a Neurorehabilitation Centre.

Defective RNA Polymerase III sensing of mitochondrial DNA in pulmonary epithelial cells impairs type I IFN immunity to SARS-CoV-2.

Identification of autosomal and sex chromosome aneuploidies using next generation sequencing.

Isolated left common carotid artery: steal syndrome and neurological complications.

Platypnea-Orthodeoxia Syndrome Provoked by Small Bowel Obstruction.

Unveiling glomerulonephritis in the Pacific: a Fijian cohort study.

Case Report: Compound heterozygous mutations in the IDUA gene causing mucopolysaccharidosis type I with uterine developmental abnormality.

An unusual presentation of portal biliopathy manifesting as chronic abdominal pain as a delayed post-splenectomy complication: a case report.

Congenital lumbar and umbilical hernias in lumbo-costo-vertebral syndrome with ipsilateral renal agenesis: A rare case report with literature review.

Cyclin-dependent kinase 10 controls bone formation and is linked to human skeletal health.

Impact of glucose metabolism abnormalities on live birth rate in South-East Asian women with polycystic ovary syndrome.

Spectrum and Clinical Reproductive Significance of Cytogenetic Abnormalities in Infertility and Recurrent Early Pregnancy Loss: A Five-Year Retrospective Study of 10,285 Cases.

Swyer-James-MacLeod Syndrome: A Rare Cause of Unilateral Hyperlucent Lung in a Two-Year-Old Male Child.

Profound Hypothermia as a Rare Presentation of Uremic Syndrome in a Patient With Advanced Chronic Kidney Disease: A Case Report and Literature Review.

Bony Stroke: Clinical Features, Management, and Outcomes in a Case Series of Seven Patients.

Stress-Induced Takotsubo Cardiomyopathy Identified by Unique Nuclear Perfusion Pattern.

Multimodal Imaging Features of Bilateral Diffuse Uveal Melanocytic Proliferation: A Systematic Review of 82 Patients.

Ocular motor and vestibular examination in the unconscious patient-standard of care.

[Clinical Manifestations of Childhood Systemic Lupus Erythematosus-associated Acute Pancreatitis and Evaluation of the Efficacy of Plasma Exchange Combined With Glucocorticoids].

The 9th International RASopathies Symposium.

Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents.

Evidence of White Matter Neuroinflammation in Myalgic Encephalomyelitis/Chronic Fatigue Syndrome: A Diffusion-Based Neuroinflammation Imaging Study.

Cleft Lip and Palate is Common in PORCN-Related Focal Dermal Hypoplasia in Asians: Three New Case Reports and Literature Review.

[Use of human umbilical cord acellular matrix for soft tissue defects in patient with diabetic foot syndrome (case report)].

Clenched fist syndrome: unveiling a motor manifestation of schizophrenia-a case report.

Kounis syndrome: a systematic review and meta-analysis.

A novel KDM6A c.2429dup mutation causing kabuki syndrome type 2 identified in a fetus with increased nuchal translucency.

Clinical-genetic features of the TBCE-related spectrum disorders: A focus on the childhood-onset neurodegenerative phenotype.

Ortho-surgical management of Arhinia syndrome: A case report.

Guideline-based diagnosis and management of congenital platelet function disorders: Current insights and future directions.

Factors associated with social participation among children with fragile X syndrome.

Syndromic Inborn Errors of Immunity in TREC-Newborn Screening: 5-year Experience from the German Screening Program.

Early uterine rupture mimicking pancreatitis in the early second trimester of pregnancy: A case report.

MaiMenDong Decoction Alleviates Primary Sjögren's Syndrome by Dual Suppression of Inflammation and Immune Dysregulation: A Synergy of Network Pharmacology and NOD/Ltj Mouse Studies.

Clinical Presentation and Diagnostic Challenges of Congenital Thoracoabdominal Wall Defects in Dogs: Insights from a Case Series and Literature Synthesis.

A Diagnostic Dilemma: Concurrent Diagnosis of Cystic Fibrosis and Definitive Kabuki Syndrome Type 1.

Leptin Receptor b (LEPRb) Mutations Disrupt Hypothalamic Control of the Reproductive Axis.

Tubular Damage Biomarkers Are a Useful Tool for Identifying Early Renal Injury in Long COVID.

Dysregulated Cholesterol Clearance via CYP46A1 Contributes to Cerebellar Sterol Imbalance in Mecp2-Null Mice.

Contribution of Myelin Damage to White Matter Changes in Osmotic Demyelination Syndrome.

When Central Tolerance Fails: Thymic Malignancies at the Intersection of Cancer Immunity and Autoimmunity.

Outcomes of Heart Transplantation in Single-Ventricle Physiology: A Retrospective Single-Center Experience with Emphasis on Surgical Complexity.

Nerve Ultrasound for the Diagnosis of Tarsal Tunnel Syndrome: Findings in 26 Clinically and Electrophysiologically Confirmed Feet.

Succinate supplementation ameliorates musculoskeletal defects caused by PLOD3 mutations in a BCARD syndrome model.

Immunomodulation of the Ocular Surface in Severe Dry Eye Disease: Expert-Driven Literature Review on Treatment Strategies with Description of Representative Challenging Cases.

Rare and emerging arterial diseases of the supra-aortic trunks: Diagnostic and therapeutic insights.

Generation of BBSOAS patient-specific induced pluripotent stem cell lines harboring six NR2F1 pathogenic variants.

Epilepsy in pediatric patients with PTEN hamartoma tumor syndrome: First step in recommendations for clinical management.

Deubiquitinase USP8 regulates the spindle assembly checkpoint in oocytes.

COG5 deficiency disrupts cellular copper homeostasis and underlies the impaired mitochondrial OXPHOS function.

Clinical characteristics and diagnostic indicators of childhood-onset systemic lupus erythematosus complicated with macrophage activation syndrome.

Acute Neurological Complications After Transplantation in Methylmalonic Acidemia: A 35-Patient French Cohort.

Persistent physical symptoms not explained by structural abnormalities or disease processes: a primary care approach to promote recovery.

Effects of Cannabidiol on TAFAZZIN-Deficient B-Lymphoblastoid Cells.

Sex Differences in the Effects of Etonogestrel on Respiratory Recovery in an In Vivo Rat Model of Central Chemoreflex Impairment.

Rapunzel Syndrome in a Child With Sensory Feeding Difficulties and Attention-Deficit Hyperactivity Disorder.

Cough-Predominant Laryngeal Hypersensitivity Syndrome in a Middle-Aged Woman: A Case Report.

The Urgent Need for Cardiometabolic Health Training: A Call to Action.

Soft Tissue Reconstruction With Synthetic Electrospun Fiber Matrix Following Musculoskeletal Injury: A Retrospective Case Series.

Identification of a novel PLS1 heterozygous variant causing autosomal dominant non-syndromic hearing loss.

Lymphoproliferation in Inborn Errors of Immunity: Mechanisms, Manifestations and Clinical Management, with a Focus on ALPID.

Efficacy and safety of Dysmenorrhea Patch acupoint application in women with primary dysmenorrhea: a randomized double-blind controlled trial.

Prenatal Deep Phenotyping in Genetic Syndromes Diagnosed in the First Trimester of Pregnancy.

Prognostic implications of genetic and transcriptomic abnormalities in MDS according to IPSS-R, IPSS-M, and the International Consensus Classification.

[Guidelines for the diagnosis and treatment of obstructive sleep apnea in adults (2025)].

RhoGEF Ect2 supports RhoA activity at cell-cell junctions through desmoplakin.

Protocol for an open-label, randomised, controlled trial to evaluate the efficacy and safety of sotatercept add-on therapy compared with pulmonary vasodilator-based standard of care for pulmonary vasodilator-resistant pulmonary arterial hypertension associated with unrepaired congenital shunts (atrial septal defect, ventricular septal defect or patent ductus arteriosus), including Eisenmenger syndrome: the SuMILE trial.

Motor Neuronopathy With Widespread Fasciculations in MCM3AP-Related Disorder: Clinical and Muscle MRI Insights.

Predictive Value of Notched P Wave for Life-Threatening Arrhythmias in Patients with Brugada Syndrome: Insights from a Multicenter Prospective Study.

Pluripotent stem-cell-based screening uncovers sildenafil as a mitochondrial disease therapy.

Comprehensive immunohistochemical and molecular characterization of paratesticular clear cell papillary cystadenomas: A multi-institutional study of 14 cases.

Type 4 Woolly Hair-palmoplantar Keratoderma Syndrome with a Novel Phenotype.

Study of Thyroid Function in Newly Diagnosed Human Immunodeficiency Virus Patients and Effect of Antiretroviral Therapy on Thyroid Function.

Immediate Reversal of Hypoxemia With PFO Closure in Carcinoid Heart Disease and Platypnea-Orthodeoxia Syndrome.

Machine Learning-Based Risk Prediction Models for Pregnancy-Related Syndromes.

Adhesion-Related Macrophages Regulate Metabolic Homeostasis Through CAV-1 Dependency.

IGFBP5 Restores Endometrial Receptivity and Rescues Implantation Failure in Polycystic Ovary Syndrome.

MDS/AML-associated DDX41 helicase facilitates homologous recombination repair by potentially resolving R-loops.

The tight bond between Fanconi anemia and aging.

Bone marrow microenvironment reprogramming in myelodysplastic neoplasms: from pathological mechanisms to targeted therapeutic strategies.

Metastatic Pancreatic Adenocarcinoma with Germline BLM and Somatic ATM Mutations: A Case Report and Review of DNA Damage Response.

Post-partum haemophagocytic lymphohistiocytosis triggered by Staphylococcus aureus bacteraemia or teicoplanin therapy.

Impact of metabolic syndrome on cardiac function and myocardial fibrosis in hypertrophic obstructive cardiomyopathy following septal myectomy assessed by cardiac magnetic resonance.

Diagnosing fetal apert syndrome: a case study on prenatal diagnosis and genetic insights.

Combined lesion-specific pericoronary adipose tissue attenuation and triglyceride-glucose body mass index for improved risk stratification of major adverse cardiovascular events in patients with stable angina pectoris.

Diagnosis and management of mirror syndrome: a case series with emphasis on the potential role of the sFLT-1/PlGF ratio in clinical practice.

Successful anesthesia management for middle cerebral artery thrombectomy in a patient with asynchronous cardio-cerebral infarction: a case report.

Addition of Multi-Level Technologies to Evaluate Eggs and Embryos and Improve Endometrial Quality Applied for In Vitro Fertilization to Achieve Pregnancy: A Case Study.

Expanding the Clinical Spectrum of Bardet-Biedl Syndrome: Chronic Liver Disease in an Adult Patient.

Hutchinson-Gilford progeria syndrome alters the endothelial genetic response to laminar shear stress.

Causal relationship between metabolic syndrome and gastric cancer: insights from comprehensive analysis and biomarker identification.

Silent Lung Injury: Acute Respiratory Distress Syndrome without Chest Trauma Following a High-Level Fall.

[Advantageous therapeutic pathways and mechanisms of Jianpi Huogu Formula in treating steroid-induced osteonecrosis of femoral head based on multi-source heterogeneous data integration of disease-syndrome-formula framework].

Systemic inflammatory response syndrome in pediatric urinary tract infections associated with urolithiasis: a retrospective study of risk factors, pathogens, and antimicrobial resistance at two tertiary hospitals.

HIF-1α mediated placental ischemic signaling in the development of early-onset preeclampsia.

Optimizing Diagnostic Accuracy of Clinical Red Flags in RASopathies.