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.

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

Anaesthetic management of a paediatric patient with Goldenhar syndrome for oral rehabilitation and palatoplasty.

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.

Silent complexity: a rare combination of polysplenia, cleft palate, retroaortic renal vein, and dorsal pancreatic agenesis.

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.

Arterial thoracic outlet syndrome due to a first-rib anomaly causing brachial artery embolic occlusion: a case report.

Pelvic pain and a missing kidney: Unveiling OHVIRA syndrome with a tubo-ovarian abscess.

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.

A New Patient With SPOUT1-Related Neurodevelopmental Disorder Identified by Genomic Data Re-Analysis: Novel Phenotypic Features and Literature Review.

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

Hypertrophic Cardiomyopathy as a Key Feature of MRAS-Related Noonan Syndrome: New Case and Comprehensive Literature Review.

[A case of left ventricular apical hypoplasia].

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.

Genomic newborn screening as a paradigm shift in rare disease management, with emphasis on endocrine conditions.

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.

De Novo RRAS2 Pathogenic Variant in a Fetus With Bilateral Radial Ray and Multisystem Anomalies.

Early brainstem volume and the need for respiratory and vasoactive support in very preterm infants.

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

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.

Integrating imaging and genomics in prenatal Treacher Collins syndrome: evidence for practice and policy.

Prenatal Fentanyl Exposure Association With Characteristic Neonatal Anomalies.

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.

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.

Novel Variants in PTPN11, NF1, RASA2, and MAP2K1: Expanding the Molecular Spectrum of RASopathies in a Turkish Cohort.

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.

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.

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.

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.

Transvenous biopsy of body cistyc lesions in a 32-year-old man with cloves syndrome and thrombocytopenia: a safe option for high bleeding risk patients.

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.

Papilledema and Pseudopapilledema in Alagille Syndrome: A Case Report.

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.

New insights into Oliver-McFarlane syndrome: adrenocortical hypofunction and variable expressivity in a Chinese sibling pair.

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

Modeling Williams syndrome from a neurodevelopmental perspective: recent advances, model-based translational insights and future directions.

Sucking Patterns in Infants with Down Syndrome admitted to a Level 4 Neonatal Intensive Care Unit.

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.

Biallelic SUPT4H1 Variants Cause a Multisystem Neurodevelopmental Disorder Associated with Disrupted Transcription.

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

Hearing characteristics of Branchio-oto-renal syndrome in Japan.

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

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

Oral Manifestations of Non Vascular Ehlers-Danlos Syndrome Cross-Sectional Study.

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

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

OTUD5-related rare X-linked multiple congenital anomalies and neurodevelopmental syndrome: clinical findings and review of the literature.

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

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.

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.

Pre-operative High-Resolution CT and MRI Evaluation in Pediatric Cochlear Implant Candidates: Correlation With Surgical Findings and Outcomes.

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.

Median arcuate ligament syndrome with anomalous origin of the right inferior phrenic artery from the celiac artery: a case report.

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.

The 9th International RASopathies Symposium.

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.

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.

Bardet-Biedl syndrome in two sibling pairs: a case series.

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

An Unusual Angiographic Pattern of the Right Coronary Artery: Recognizing Woven Coronary Anomaly.

The e ffec t of the nose fo rm o n lin ear and a ngular lip po sitio n in C l as s II patients.

Impaired retinoic acid receptor-γ signalling underlies a heritable form of urothelial keratinising squamous metaplasia.

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.

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

Prenatal Molecular Diagnosis of COL2A1-Associated Stickler Syndrome: Genotype-Phenotype Correlation in a Resource-Limited Healthcare Setting.

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

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.

Non-pterygium Escobar syndrome from compound-heterozygous CHRNG variants: genotype-phenotype insights.

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.

Facial-palate correlation in unilateral cleft lip and palate: A data-driven 3D analysis.

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

"Congenital Muscular Pseudohypertrophy of the Upper Limb: Morphology, Anatomy and Surgical Guidelines of An Unique Entity".

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.

Late-onset OHVIRA syndrome in a 49-year-old woman with severe dysmenorrhea: a case report on vaginoscopic management.

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

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

Congenital Upper Extremity Anomalies Misdiagnosed as Ulnar Longitudinal Deficiency.

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

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12-Related Developmental Disorders.

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)].

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.

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.

Factors associated with single versus multiple supernumerary teeth in a paediatric population: a cross-sectional study.

Oculoskeletodental syndrome: expansion and review of the clinical and molecular phenotype.

Right ureterovesical junction cyst associated with ipsilateral renal agenesis: a case report of a possible Wolffian duct maldevelopment.

The tight bond between Fanconi anemia and aging.

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

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.

A rare case of Mayer-Rokitansky-Küster-Hauser syndrome presenting with primary amenorrhea and chronic headaches: a case report.

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.

Bilateral Clubfoot in Nail-Patella Syndrome: A Rare Syndromic Case Successfully Treated with the Ponseti Method.

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

Biliary atresia, splenic malformation, and situs inversus managed with Kasai portoenterostomy: case report.

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].

The effect of gestational diabetes on maternal and neonatal outcomes.

Who receives a diagnostic label for fibromyalgia, chronic fatigue syndrome, and irritable bowel syndrome? A study in the lifelines cohort.

Immunophenotypic Stratification of Primary Sjögren's Syndrome Reveals Distinct Lymphocyte Profiles and Clinical Manifestations.

Expanding the phenotypic and immunological landscape of Alazami syndrome: Evidence from seven new patients with LARP7 gene variants.

Tet methylcytosine dioxygenase 2(TET2)-dependent epigenetic regulation in the pathogenesis of polycystic ovary syndrome.

[Advance in research on MIRAGE syndrome].

[Clinical phenotype and genetic analysis of a fetus with abnormal development due to a rare paternal t(10;14)(p11.2;p11) translocation].

[Analysis of clinical features and genetic variants in a Chinese pedigree affected with Spondyloepiphyseal dysplasia type Ehlers-Danlos syndrome due to variants of B3GALT6 gene].

[Clinical phenotype and genetic analysis of a child with CAKUTHED syndrome due to variant of PBX1 gene].

[Clinical features and genetic analysis of a child with STISS syndrome due to variant of PSMD12 gene].

[Clinical features and genetic etiology analysis in a patient with Fliedner-Zweier syndrome caused by a de novo SCAF4 variant].

[Application of SNP linkage-based PGT-M to block the transmission of EFNB1 deletion in a Chinese family affected with Cranio-facial-nasal syndrome].

Evaluation of autonomic dysfunction with dynamic pupillometry in non-obese young women with polycystic ovary syndrome.

Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Clear Cell Foci as Precursors of Hepatocyte Nuclear Factor 1-alpha-inactivated Hepatocellular Adenoma in a Metabolic Syndrome Mouse Model.

Identification of an emerging heterozygous variant in KAT6A by whole exome sequencing: a case report.

Case Report: Safety analysis of blinatumomab consolidation therapy in two cases of acute B-cell lymphoblastic leukemia in complete remission complicated with immune effector cell-associated neurotoxicity syndrome.

Novel ANKRD11 Mutation in KBG Syndrome: A diagnostic triad of hearing loss, radiological macrodontia and artificial intelligence-assisted facial phenotyping.

An Unusual Musculoaponeurotic Slip of the Brachioradialis as a Potential Cause of Radial Nerve and Radial Recurrent Artery Compression.

Predictive value for intravenous immunoglobulin resistance of Kobayashi and Kawanet scores in 722 children with Kawasaki disease across diverse ethnic backgrounds (KIWI study): an international cohort study.

Clinical Features and Outcomes of Spontaneous Tumor Lysis in Testicular Germ Cell Tumors: A Case Series From a Cancer Center in Lahore, Pakistan.

Reproductive Health After Kidney Transplantation: Insights Into Infertility and Assisted Techniques.

Oculocutaneous albinism variants in 28 consanguineous families and functional classification of a pathogenic deep intron variant in TYR.

Proteomic analysis of tissue-derived extracellular vesicles shows region-specific molecular changes in a rat model of takotsubo syndrome.

QT Myopia and Cardiac Safety: Expanding the Aperture of Arrhythmia Assessment in Early Phase Drug Development.

Pediatric tumor lysis syndrome: the nephrologist's role in prevention and management.

[Diagnosis and treatment of Budd-Chiari syndrome (literature review)].

[Accessory cervical rib as a cause of arterial thoracic outlet syndrome (clinical case)].

Reproductive potential in mosaic Turner syndrome: impact of karyotype pattern and mosaicism ratio.

Mitotic BLM functions are required to maintain genomic stability.

First trichogram characterization of hair shaft abnormalities in ichthyosis prematurity syndrome.

De Novo 3q27.1 Microdeletion Refines the Critical Region and Implicates PSMD2 Haploinsufficiency in Growth and Neurodevelopmental Abnormalities.

When Back Pain Is Cardiac: Spontaneous Coronary Artery Dissection in a Male Patient.

Exploring the Therapeutic Potential and Mechanism of Qiangzhi Fang in a Rat Model of Tic Disorder with ADHD: Behavioral and Molecular Insights.

SEVERE TOXIC EPIDERMAL NECROLYSIS COMPLICATED BY ACUTE KIDNEY INJURY: DIAGNOSTIC AND THERAPEUTIC CONSIDERATIONS.

Absence of lumbosacral plexus abnormalities in preschool children with tethered cord syndrome: A multiparametric MRI study.