At the extreme limits of L-DOPA therapy: probable dopamine dysregulation and psychiatric complications in Parkinson's disease.

The genetics of obesity: aetiology, prevention and therapy.

The efficacy and tolerability of lacosamide adjunctive therapy in children with drug-refractory epilepsy: A nationwide Turkish cohort study.

Sudden Cardiac Arrest in Proximal Femur Fracture: The Role of Admission Blood Parameters.

Premature Coronary Artery Disease and Familial Dyslipidemia in Patients Presenting With Acute Coronary Syndrome: A Tertiary Cardiac Center Registry.

Antibiotics in the first week of life are not associated with functional gastrointestinal disorders at 9-12 years of age.

Growth Guidance Surgery: Factors Associated With Complications.

Genetic variants through exome sequencing in Spanish patients affected by primary congenital glaucoma and juvenile open-angle glaucoma.

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

Bi-allelic variants in the non-protein-coding minor spliceosome components RNU6ATAC and RNU4ATAC cause syndromic monogenic autoimmune diabetes.

Early hypocortisolism with persistent remission following osilodrostat in a patient with long-standing Cushing disease.

Why Is Colorectal Cancer Occurring Earlier? Metabolic Dysfunction, Underrecognized Carcinogens, and Emerging Controversies.

Delayed fatal neurotoxicity in post CAR-T cell therapy for multiple myeloma, a case report.

Short Stature and Growth Hormone Deficiency in POMC Deficiency: An Unexpected Clinical Association.

Disturbed mitochondrial maturation in cardiolipin remodeling-deficient cardiomyocytes.

[Clinical Analysis of Allogeneic Hematopoietic Stem Cell Transplantation for Very Early-Onset Inflammatory Bowel Disease Caused by IL-10RA Mutation].

Severe renovascular hypertension in an infant with a SMAD3 gene variant.

Long-lasting remodeling of astrocytes in an Scna1+/- mouse model of Dravet syndrome.

A paradigm shift in genetic predisposition to colorectal cancer: the impact of germline multigene panel testing on diagnosis and management.

Recurrent spontaneous pneumothorax and surgical management in Birt-Hogg-Dubé syndrome: a case report.

The Amyloid Plaque Proteomes of Alzheimer's Disease and Mild Cognitive Impairment.

[Cockayne syndrome: peculiarities of clinical manifestations and algorithm of observation in childhood].

[Multiple endocrine neoplasia syndrome type 1: analysis of data from 102 patients from 43 families in the population of the Russian Federation].

Epidemiological and Clinical Aspects of Early-Onset Colorectal Cancer: A Comparative Study of 180 Cases.

Systemic and Ocular Manifestations of a Ciliopathy: A Case Report of Renal-Retinal Involvement in Senior-Loken Syndrome.

Neonatal Bradypnea as an Under-Recognized Manifestation of Prader-Willi Syndrome: A Case Report.

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

The tight bond between Fanconi anemia and aging.

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

A variant in RESF1 is associated with Addison's disease and multiple autoimmune syndrome in young Nova Scotia Duck Tolling Retrievers.

Recurrent IRF2BPL c.2152del Variant in NEDAMSS: A Case Report and Comparative Analysis.

A Case of a Novel Perforin Gene Variant in Severe Familial Hemophagocytic Lymphohistiocytosis Type 2 (FHL2).

Pediatric-Onset Multiple Sclerosis at Age 10 Following Nephrotic Syndrome: Early Recognition and Successful Treatment With Fingolimod.

A Prospective-Retrospective Observational Cohort Study of Short-Term Health Outcomes of Preterm Very Low Birth Weight Infants Receiving Oropharyngeal Administration of Own Mother's Colostrum.

Genome-Wide Assessment Reveals Ancestral Differences in Homozygosity Patterns Potentially Linked to Parkinson's Disease Etiology.

Association of Bassoon (BSN) Gene Mutations With Gait and Motor Impairments in Parkinson's Disease.

Non-syndromic hyper-IgE in children: A practical approach.

Adult-Onset Diabetes and Liver Fibrosis as Diagnostic Clues to Alström Syndrome: A Case Report.

Distinct mutational signature and clonal evolution in constitutional mismatch repair deficiency-associated high-grade gliomas.

A novel homozygous frameshift mutation in the WDR73 gene causes Galloway-Mowat syndrome in a Chinese consanguineous family.

Introduction of a Brain MRI Scoring System with Clinical Relevance for Sturge-Weber Syndrome.

Intrafamilial variability of myoclonic dystonia in a large French family carrying a novel SGCE variant.

Scoliosis in Escobar Syndrome: Retrospective Review of Surgical Outcomes, Risks, and Radiographic Patterns.

Hereditary Hyperferritinemia-Cataract Syndrome Misdiagnosed as Iron Overload: A Case Report.

Case Report: Pediatric nephrology-expanding the genotypic spectrum of COQ2-related nephropathy with a novel splice site variant in CoQ10-responsive SRNS.

[Analysis of maternal and fetal outcomes and related factors of recurrence in women with a history of pre-eclampsia].

Bilateral Cochlear Implantation in a Child With Galloway-Mowat Syndrome: A Case Report.

Maternal Child-Directed Speech Toward Children With Infantile Spasm or West Syndrome.

Case Report: Tricho-hepato-enteric syndrome in an infant presented with colorectal ulceration and severe respiratory superinfection.

Early lung ultrasound score combined with umbilical cord-blood procalcitonin improves 1-year prognostic stratification in preterm neonates with respiratory distress syndrome.

[When kidney disease is genetic: clues for the primary care physician].

The Relationship Between Peripheral Eosinophilia, Lower Respiratory Tract Pathogens, Age at First Pneumonia, and Malnutrition in Children with Non-cystic Fibrosis Bronchiectasis.

Genetic Architecture of Myopia and Its Implications for Risk Stratification and Prognosis.

Pathology of the Human Temporal Bone in a Rare Case of Combined Usher Syndrome and Cystic Fibrosis.

Genetic Variants in Potassium Channel Genes and Their Clinical Implications in Kazakhstani Patients with Cardiac Arrhythmias.

Generative AI Accelerates Genotype-Phenotype Characterization of a 1600-Case Leigh Syndrome Virtual Cohort from Published Literature.

Type 2 diabetes in people living with HIV: epidemiology, mechanisms, sex differences and early-life determinants.

Tackling the diagnosis of HA20 in children: challenges of a highly variable clinical and genetic spectrum.

Neuroinflammation as a driver of Down syndrome-associated Alzheimer's disease.

Intravenous Pamidronate in Persistent Complex Regional Pain Syndrome (CRPS): A Retrospective Observational Study on Effectiveness and Tolerability.

Nutrient and endocrine factors affecting impaired growth in pediatric mitochondrial diseases.

Late-Onset Li-Fraumeni Syndrome-Like Phenotype Presenting With Synchronous Lung Adenocarcinoma and Ovarian High-Grade Serous Carcinoma: A Case Report.

Anesthetic considerations in surgery for early onset scoliosis: Challenges and advancements.

Deficiency of Werner RecQ-type DNA helicase causes premature malnutrition in zebrafish.

Characteristics of monogenic inflammatory bowel disease in very early-onset cases: a Japanese multicenter registry study.

Exploring the Impact of RNU4-2 Defects on Neurodevelopmental Disorders in a Korean Population.

Genetic and Clinical Characteristics of Chromosome 15q11-q13 Duplication Syndrome in Chinese Children.

Distinct immunological features characterize early-onset primary Sjögren's disease.

Immune Dysregulation, Polyendocrinopathy and Enteropathy X-Linked Syndrome with Neonatal Onset: A Case Report.

Case Report: SLC52A2 variants cause Brown-Vialetto-Van Laere syndrome type 2, characterized by pure red cell aplastic anemia: clinical and genetic features of three Chinese children.

Novel Mutations in KCNJ10 Gene Associated With SeSAME Syndrome: Rare Disorder With Possible Common Mutation.

Angiogenic factors and fetal Doppler for predicting adverse pregnancy outcome in early-onset small fetuses with and without pre-eclampsia.

Efficacy of GLP-1 analog peptides, semaglutide, tirzepatide, and retatrutide on MC4R deficient obesity and their comparison.

Early-onset parkinsonism with intellectual disability in an Italian family associated with a PTRHD1 variant.

WDR59 Is Mutated in Individuals With Autosomal Recessive Syndromic Dilated Cardiomyopathy.

Early-Onset Ocular Presentation in Stickler Syndrome Type 1 Due to a COL2A1 Frameshift Variant.

Transient antenatal Bartter syndrome type 5 presenting as shock and metabolic acidosis in a preterm neonate.

Surveying immune and inflammatory alterations in periodontitis among individuals with Down syndrome: A preliminary cross-sectional study.

Case Report: Early-onset VEXAS syndrome with recurrent pulmonary inflammation and myelodysplasia: a diagnostic and therapeutic challenge.

KCC2 activation during postnatal development alleviates long-term deficits in CDKL5-deficient mice.

Case Report: IL2RA (CD25) deficiency: first reported cases in Morocco.

Prediction of survival after fetoscopic laser surgery for early-onset twin-to-twin transfusion syndrome.

Natural history and phenotype-genotype correlations in GJB2-related hearing loss: a systematic and comprehensive review.

Routine Fundoscopy Uncovering Wolfram Syndrome in a Diabetic Patient: A Case Report.

Risk Factors of Proximal and Distal Advanced Colorectal Conventional and Serrated Neoplasia in Adults Younger Than 50 Years of Age.

Expanding the clinical and immunological phenotypes of COPB1 deficiency.

Subsequent primary cancer risks for non-hereditary colorectal cancer survivors.

Why reproduction has probably been very problematic in Neanderthals: The fabulous history of (pre)eclampsia.

Unravelling Narcolepsy: A Series of Complex Pediatric Cases.

Early-onset de novo donor-specific anti-HLA antibodies may contribute to poor graft function following haploidentical transplantation for myelodysplastic syndrome: a rare case presentation.

[Phenotypic heterogeneity and management strategies for two brothers with XIAP deficiency syndrome].

ATP-binding Cassette Transporter Defects and Their Roles in Hepatic Diseases.

Early onset scoliosis in syndromic and neuromuscular disorders: A multidisciplinary approach.

Psychotic Risk Associated With Cannabinoid Use: A Case Report of Ekbom-Like Delusional Infestation.

Incidence and outcome of major perinatal comorbidities of all hospitalized neonates requiring intensive and critical care: a livebirth population-based survey.

MSTO1-related mitochondrial myopathy and ataxia syndrome: Case series and literature review.

Ultra-deep duplex sequencing reveals unique features of somatic evolution in the normal tissues of a family with Li-Fraumeni syndrome.

CSF1R-related leukoencephalopathy presenting with early apathy, hypoactivity, and cognitive flattening: a case report of a diagnostic challenge.

Germline genomic profiling of patients with early-onset colorectal cancer.

Fatal Ultra-Early-Onset Rhino-Cerebral Mucormycosis Caused by Rhizomucor miehei Following Umbilical Cord Blood Transplantation and Review of Published Literature.

Early-onset kidney failure in a girl with autosomal dominant tubulointerstitial kidney disease due to a de novo UMOD variant.

The role of genetics and molecular mechanisms in early onset scoliosis.

Early-onset preeclampsia: gestational age threshold of potential benefits.

From Synovial Fluid to Musculoskeletal Ultrasound: A Portrayal of Joint Involvement in Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome: A Case Series.

The Ketogenic Diet in the Neonatal Intensive Care Setting: The Case of a Preterm Newborn With Mitochondrial DNA Depletion Syndrome Type 13 (MTDPS13).

Syndrome of the Month: Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia Type 2.

Risk factors for pulmonary hemorrhage of very low birth weight infants: a meta-analysis.

Integrated Prediction System for Individualized Ovarian Stimulation and Ovarian Hyperstimulation Syndrome Prevention: Algorithm Development and Validation.

Expanding the Genetic Landscape of ATXN2 Variants: Insights From a Biallelic Trinucleotide Repeat Expansion in an Acadian Family.

Novel KIF5A variant in a patient with early-onset levodopa-responsive Parkinson's syndrome.

From Misdiagnosis to Genetic Confirmation: A Brazilian Familial Report of Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome-A Case-Based Review.

Case Report: Post-transplant lymphoproliferative disorder after kidney transplantation in a child with schimke immuno-osseous dysplasia.

Developmental and Epileptic Encephalopathy due to Cyclin-Dependent Kinase-Like 5 Deficiency: A Single-Center Experience Across Sex Differences.

Expanding the phenotypic spectrum of MECOM-associated syndrome: rare variants are associated with syndromic pulmonary arterial hypertension.

Prenatal diagnosis of Neu-Laxova syndrome with compound heterozygous variants in PHGDH in a fetus presenting increased nuchal translucency and severe early-onset fetal growth restriction in a dichorionic diamniotic twin pregnancy.

A novel heterozygous WFS1 variant of uncertain significance in a patient with early-onset diabetes: a case report.

Infantile Epsilon-Sarcoglycan (SGCE) Myoclonus-Dystonia: Diagnostic Pitfalls and Poor Response to Pharmacologic Treatment.

Sporadic Diffuse Palmoplantar Keratoderma in a Pediatric Patient With Early Onset: A Case Report.

DYRK1A Expression and Thyroid Dysfunction in Subjects With Down Syndrome.

Bardet-Biedl syndrome presenting with early-onset infantile obesity.

Age-Related Germline Landscape of Endometrial Cancer: Focus on Early-Onset Cases.

Risk factors for hemodynamically significant patent ductus arteriosus and ibuprofen treatment failure in premature twins: a retrospective case-control study.

Potential benefits of JAK inhibitor therapy in Blau syndrome: a case report.

Atypical Histopathological Findings in an Epilepsy Surgery Case of Sturge-Weber Syndrome With Coexisting Developmental Venous Anomaly.

Prenatal Diagnosis of Peters-Plus Syndrome: A Case Report.

The genetics of autosomal recessive ALS: a review of the common forms and their phenotypes.

Mouse model of atypical DAT deficiency syndrome uncovers dopamine dysfunction associated with parkinsonism and ADHD.

A Case-Based Literature Review of RELA Associated Inflammatory Diseases.

Cohen syndrome with novel VPS13B variants presenting as early-onset diabetes: a case report.

Case Report: Clinical application of an in vitro prenylation assay in the diagnosis of an early-onset case of mevalonate kinase deficiency harbouring a novel MVK variant.

[Types of Preeclampsia According to Placental Single Cell RNA Sequencing, Type 1 and Type 2 Levels - Insights and Clinical Implications].

Early-onset colorectal cancer is associated with metabolic disorders: a systematic review and meta-analysis.

Parkinsonism-dystonia syndrome due to a PARK7 gene mutation.

Diverse NF2 alterations in cranial schwannomas: a two-case series of germline whole-gene deletion and somatic in-frame deletion.

Ambulatory Patients With Early Onset Scoliosis Have Similar Complication Profiles Following MCGR Treatment Across All Classification Etiologies.

TAVI-in-TAVI in a patient with morquio syndrome: a case report.

The impact of congenital heart disease on the timing of Alzheimer's disease in Down syndrome.

Clinical and genotypic characteristics of 19 children with STXBP1-encephalopathy.

Early-onset Palmijihwang-hwan treatment modulates phospholipid metabolism and gut microbiota for healthy aging: reducing adipose inflammation and oxidative stress.

Reduction in mucosal phosphorylated STAT3 under therapy with JAK inhibitor in STAT3 gain of function mutation - a case study.

Retinal Degeneration and Visual Outcomes in Patients With Bardet-Biedl Syndrome: Genotypic Influences From a Caribbean Cohort.

Recurrent uterine adenofibroma revealed to be hyperparathyroidism-jaw tumor syndrome: Case report.

Re-evaluating higher age as a risk factor for diabetes in the Indian population: the emergence of young-onset type 2 diabetes.

Clinical Presentation of a Child With a Novel ALMS1 Variant Associated With Alström Syndrome and Favorable Response to GLP-1 Receptor Agonist Therapy.

Newborn Respiratory Distress: Evaluation and Management.

Pharmacotherapeutic Controversies During Temperature Control After Out-of-Hospital Cardiac Arrest: A Semi-Structured Literature Review.

Supraventricular tachycardias in ion channel diseases.

Intrapartum recognition and management of fetal inflammation.

ATP6V1C1 deficiency impairs auditory and vestibular hair cell function and leads to sensorineural hearing loss in humans and mice.

Paediatric Presentations of Early-Onset Glaucoma and Stickler Syndrome: A Case Series.

Novel frameshift variant in the β subunit of epithelial sodium channels uncovers Liddle syndrome in a young patient with metabolic syndrome: a case report with review of literature.

De Novo Germline L858R EGFR Variants and Generalized Acanthosis Nigricans.

Monogenic and SLE-like disorders in the pediatric population: insights from a Northern Israel cohort.

Diagnosis and Management of Spontaneous Twin Anemia Polycythemia Sequence during Early Second Trimester: A Case Report.

Craniofacial features associated with Hutchinson - Gilford progeria syndrome - A case report.

Mutational Landscape of Colorectal Tumors From Individuals With Unexplained Adenomatous or Serrated Colorectal Polyposis.

Identifying a Recurrent BRCA1 Variant in the Qatari Population With Unique Genotype-Phenotype Correlations.

Hereditary renal cell carcinoma surveillance protocols: a review of the literature and proposed recommendations.

Prolonged Corrected QT Interval as an Early Electrocardiographic Marker of Cyclophosphamide-Induced Cardiotoxicity in Pediatric Hematology and Oncology Patients.

Prenatal Diagnosis of Bloom Syndrome Associated With Biallelic BLM RecQ-Like Helicase Variants Presenting With Severe Fetal Growth Restriction.

The Changing Landscape of Hereditary Diffuse Gastric Cancer.

Are Estrogens Involved in the Earlier Onset of Psoriasis in Girls? Comment on Cassalia et al. How Hormonal Balance Changes Lives in Women with Psoriasis. J. Clin. Med. 2025, 14, 582.

Novel SIM1 Variants Expanding the Spectrum of SIM1-Related Obesity.

Coexistence of Alport Syndrome and Fabry Disease in a Female with R112H Variant: Early Progression of Fabry Nephropathy.

The CTDP1 Founder Variant in CCFDN: Insights into Pathogenesis, Phenotypic Spectrum and Therapeutic Approaches.

Spinal Pathologies Associated With Loeys-Dietz Syndrome: A Systematic Review.

Dystonia-deafness syndrome 1 caused by ACTB p.(Arg183Trp) de novo variant: one novel case extending the phenotypic spectrum.

A case of early-onset ovarian cancer following bariatric surgery: Highlighting the need for caution in genetically predisposed obese patients.

Microplastic Exposure and Its Dual Impact on Metabolic Syndrome and Pathways of Colorectal Carcinogenesis: A Systematic Review of Epidemiological, Experimental, and Mechanistic Evidence.

Multiple myeloma risk linked to DNA damage response genes.

Congenital nephrotic syndrome in a newborn with glycogen storage disease and Wilms tumor 1 (WT1) mutation.

Diabetic Cardiovascular Complications in Women and Young Adults.

The Age of Definitive Fusion Surgery for Early Onset Scoliosis Has Remained Constant Over the Past 2 Decades.

A case report: Guillain-Barré syndrome probably associated with TNF inhibitor in Blau syndrome.

Incomplete Kawasaki disease associated with acute icteric hepatitis and Torque teno virus infection: a case report and literature review.

Immune Checkpoint Inhibitor-Associated Myocarditis With Myositis/Myasthenia Gravis Overlap Syndrome: Two Case Reports Highlighting Early Onset, Diagnostic Uncertainty, and Management Considerations.

Late-onset intracerebral hemorrhage associated with COL4A1 variants: clinical and genetic perspectives.

The p53 R181C mutation accumulates through impaired deacetylation by Sirt1 and facilitates tumor development.

Preface: 13th International Workshop Reunion Island Reproductive Immunology, immunological tolerance and immunology of preeclampsia; 9-12 December 2024.

Unmasking familial follicular cell-derived thyroid neoplasms associated with syndromes: DICER1 and PTEN-hamartoma tumor syndromes.

Metabolic syndrome and colorectal cancer: Mechanisms, epidemiological evidence, and clinical implications.

Exome Sequencing Identifies Variants in MLH1 and ERBB2 as Potential Cancer-Predisposing Factors in Familial Early-Onset Colorectal Cancer.

Unveiling the vestibular system's role in anxiety and the promise of electrical vestibular stimulation (VeNS) therapy.

A De Novo Splicing Mutation of SRP72 in Bone Marrow Failure Syndrome Type 1: Case Report and Review of the Literature.

Infantile Spasms (West Syndrome): Integrating Genetic, Neurotrophic, and Hormonal Mechanisms Toward Precision Therapy.

Phenotypic expansion of CALM1/2-associated disorders to include neurologic phenotypes without arrhythmia.

"CANDLE syndrome: A closer look at a rare autoinflammatory disorder".

Alström syndrome: a cross-sectional and follow-up study of 127 patients in China, highlighting genetic variant spectrum and cardiac features.

Marinesco-Sjögren Syndrome: A Novel SIL1 Variant with In Silico Analysis and Review of the Literature.

Longitudinal Multimodal Assessment of Structure and Function in INPP5E-Related Retinopathy.

Differences in Inflammatory Genetic Profiles in Periodontitis Associated with Genetic and Immunological Disorders: A Systematic Review.

Unveiling the dual nature of late-onset systemic lupus erythematosus: A cross-sectional study.

Re: Aktas et al: Outcomes of gonioscopy-assisted transluminal trabeculotomy in children with early-onset glaucoma secondary to Sturge-Weber syndrome (Ophthalmology Glaucoma. 2025;8:407-413).

Targeted Next-Generation Sequencing of the Leptin-Melanocortin Pathway in Severe Obesity.

WHIM syndrome: from mechanism to targeted therapy - advances shaping clinical care.

Comparison between germline and somatic loss-of-function RNF43 mutations reveals different genotype-phenotype associations and provides insights into the genetic mechanisms of colorectal tumourigenesis.

Precision Care for Hereditary Urologic Cancers: Genetic Testing, Counseling, Surveillance, and Therapeutic Implications.

Early onset Arboleda-Tham syndrome due to KAT6A variants: Case report.

HELLP syndrome as a major contributor to adverse maternal and neonatal outcomes among preeclamptic women: findings from a multicenter retrospective cohort study.