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

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.

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].

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

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

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

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

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.

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

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

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.

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

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.

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

Expanding the clinical and immunological phenotypes of COPB1 deficiency.

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

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

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.

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

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

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.

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

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

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

Parkinsonism-dystonia syndrome due to a PARK7 gene mutation.

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

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.

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.

Intrapartum recognition and management of fetal inflammation.

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

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

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

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.

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

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

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.

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.

Clinical and molecular spectrum of mucopolysaccharidosis IVA in Iraqi children: Allele-specific genotype-phenotype trends and novel GALNS variants.

An Out-of-Place Etiology: Recognizing FMR1 Premutation in the Memory Clinic.

Highly sensitive early-onset Alzheimer's disease: a case report.

Novel HCK-associated mutation causing autoinflammatory disorder with pulmonary manifestations in a pediatric patient.

Hereditary diffuse gastric cancer: a case report.

Surgical management of progressive spinal deformities in FKBP14-associated Ehlers-Danlos syndrome: a case report and literature review.

Further evidence for a wide phenotypic and mutational spectrum of Cohen syndrome: case report and literature review.

Research Progress on the Relationship Between Serum Uric Acid Levels and Coagulation Dysfunction in Preeclampsia.

Early onset scoliosis: Can Best Practice Guidelines Be Provided in Europe?

Early-onset gastrointestinal amyloid A amyloidosis without renal involvement in a patient with RA-pSpA overlap: A case report.

Significant progress in hereditary gastrointestinal cancer research presented at the meeting of the International Society for Gastrointestinal Hereditary Tumors (InSiGHT) 10th meeting of InSiGHT, June 19th -22nd, 2024, Barcelona, Spain.

Monogenic Mimics of Neuroinflammatory Phenotypes in Children and Young Adults: An Evolving Landscape.

Novel variant in PNPLA6 gene causes Oliver-McFarlane syndrome in a Chinese family: 13 years follow-up.

Senior-Løken syndrome with IQCB1/NPHP5 mutation in an adult: a case report.

Increased Prevalence of Insulin Resistance and Metabolic Syndrome in Men With Early-Onset Androgenetic Alopecia: A Case-Control Study.

Case Report: Compound heterozygous KCTD7 variants in two siblings presenting with myoclonic epilepsy and ataxia.

Kufor-Rakeb Syndrome in a Guatemalan Patient With an ATP13A2 Gene Pathogenic Variant: A Case Report.

A Rare Case of Wolfram Syndrome in a 27-Year-Old Male From Nepal.

Rare Genetic Variants Underlying Primary Immunodeficiency: Clinical, Pulmonary, and Genetic Insights from Two Pediatric Cases.

Clinical Findings and Molecular Genetics of USH1C-Associated Usher Syndrome.

Clinical presentation and outcomes of patients with biallelic SCN5A variants: A systematic review.

Tocilizumab as a treatment tool for ROSAH syndrome: a case report.

Fulminant necrotizing fasciitis secondary to Aeromonas dhakensis infection: a case report.

Epidermolysis Bullosa Related to the KLHL24 Gene: A Rare Pediatric Manifestation of Arrhythmogenic Cardiomyopathy.

Alström syndrome in China: epidemiologic trends, geographic distribution, and clinical-socioeconomic profiles under innovative care models.

CHARGE Syndrome and Scoliosis: A Multicenter Study Highlighting Elevated Surgical Complications.

Characteristics of Secondary Malignancy Among Children With Primary Immunodeficiency Disorders in Saudi Arabia.

A review on clinical implications of S100 proteins in lung diseases.

Efficacy and safety of vigabatrin as preventive therapy for children with tuberous sclerosis complex: A systematic review and meta-analysis.

PERIGENOMED-CLINICS 1-the first study on feasibility, acceptability and psychosocial impact of PERIGENOMED: a pilot project aimed at providing initial concrete evidence on the relevance of panel-based genome sequencing for newborn screening (NBS) in France.

Apathy and cognitive decline as the first presentation of SLE-associated vascular dementia: a case report.

Clinical, biochemical, and molecular characterization of a cohort of Egyptian patients with Sanfilippo B syndrome (MPS IIIB): Bayesian Gaussian mixture model.

Novel OFD1 Mutation Results in Unusually Early-Onset Polycystic Kidney Disease.

Young-Onset Central Retinal Vein Occlusion with Antiphospholipid Syndrome and Hypophysitis.

Early-onset Sulzberger-Garbe dermatosis: a rare pediatric case report.

A Review of Syndromic Forms of Obesity: Genetic Etiology, Clinical Features, and Molecular Diagnosis.

Case Report: Biallelic variants in MRPS36, encoding a component of the 2-oxoglutarate dehydrogenase complex, cause leigh syndrome.

Mesenchymal stem cells: opening a new chapter in the treatment of gynecological diseases.

Multimodal neuroimaging in a case of familial (G114V) juvenile Creutzfeldt-Jakob disease presenting with parkinsonism.

Gut Microbiome-Mediated Genetic and Epigenetic Alterations in Colorectal Cancer: Population-Specific Insights.

Spinocerebellar ataxias masquerading as movement disorders: clinical and genetic characterization.

Diabetes mellitus and pregnancy in Wolfram syndrome type 1: a case report with review of clinical and pathophysiological aspects.

PI31 expression is neuroprotective in a mouse model of early-onset parkinsonism.

The Role of Galectin-3 as a Biomarker in the Cardio-Renal-Metabolic Pathology Axis.

Case Series and Literature Review on Phenotypic Variants of Restless Legs Syndrome (RLS): A Unique Phase of Typical RLS?

Developmental progression of respiratory dysfunction in a mouse model of Dravet syndrome.

Advancing Pediatric Hypertension: Mechanism Insights, Clinical Trials and Innovation.

Novel WT1 and ACTN4 co-mutations in a patient with Denys-Drash syndrome and an atypical, potentially attenuated presentation of nephropathy: a case report.

Pericardial Calcification Following Acute Myopericarditis After Initial CHOP Treatment for Mantle Cell Lymphoma: A Case Report.

Pediatric Sneddon syndrome presenting with early-onset liver fibrosis: a rare case report.

Clinical, biochemical, and molecular characteristics of Sanfilippo a syndrome (MPS IIIA) in a cohort of Egyptian patients.

Case Report: Parsonage-Turner syndrome due to SEPTIN9 mutation: report of an Italian family with childhood onset and review of the literature.

Clinical and genetic analysis of ERCC8-Related cockayne syndrome: hepatic dysfunction as a biomarker, anhidrosis as a rare feature, and rehabilitation outcomes for ankle contractures.

WFS1 gene mutation associated with pediatric diabetes mellitus and congenital deafness: A case report.

Juvenile idiopathic arthritis or skeletal dysplasia: first case report of camptodactyly-arthropathy-coxa vara-pericarditis from Iran.

Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy: report of two cases.

Outcomes of Growth-Friendly Surgery and Posterior Spinal Fusion in Children With Rett Syndrome and Early Onset Scoliosis.

Retinal Degeneration Diagnosed at 12 and 13 Months and Sensorineural Hearing Loss in Two Unrelated Female Infants With PRS Deficiency.

Case Report of Nephrogenic Diabetes Insipidus with a Novel Mutation in the AQP2 Gene.

Case Report: Novel ATP13A2 pathogenic variants associated with early-onset parkinsonism and a mini-review.

Severe clinical manifestation of mitochondrial disease due to the m.3243A>T variant: a case report of early-onset, multi-organ involvement and premature death.

Fulminant Primary Biliary Cholangitis-Autoimmune Hepatitis (PBC-AIH) Overlap Syndrome in a 27-Year-Old Woman With Childhood-Onset AIH: Steroid-Refractory Decompensation Necessitating Urgent Transplant Evaluation.

Venovenous extracorporeal membrane oxygenation catheter related superior vena cava syndrome without pre-existing stenosis in an adult patient: a case report.

Genome-wide DNA methylation profiles of colorectal tumors in Lynch syndrome and familial adenomatous polyposis.

Recurrent Hemorrhagic Stroke and Microcephaly in a Newborn with Aicardi-Goutières Syndrome Caused by a Homozygous Intronic RNASEH2B Variant.

Cognitive Decline in Parkinsonism: From Clinical Phenotypes to the Genetic Background.

Genetic Landscape of Obesity in Children: Research Advances and Prospects.

A murine model lacking Lyst recapitulates Chediak-Higashi syndrome with an earlier-onset neurodegenerative phenotype.

Clinicopathological characterization of vacuolar tauopathy associated with VCP D395G.

Uveitis in Parry-Romberg syndrome: A case report and review of literature.

Rapid contraction of the anterior capsule after phacoemulsification in uveitis: A case report.

Molecular and cellular processes disrupted in the early postnatal Down syndrome prefrontal cortex.

Neuroinflammation and amyloid load in different age groups of individuals with Down syndrome: A PET imaging study.

[A rare clinical presentation of a patient with Blau syndrome confirmed by genetic analysis].

A novel TIMM8A mutation in Mohr-Tranebjaerg syndrome without hearing loss and with basal ganglia iron deposition.

Validation of criteria for frontotemporal dementia with right anterior temporal lobe predominance.

Multiple intraplacental hematomas preceding clinical deterioration in preeclampsia with severe features: A case report.

Novel missense variants in CFL2 affect F-actin depolymerisation and expand the disease spectrum of CFL2-related myopathy.

Variant Ataxia-Telangiectasia Presenting as Tremor-Dystonia Syndrome in a Bulgarian Religious Minority.

TSC2/PKD1 Contiguous Gene Deletion Syndrome: A Case Series.

Severe Early-Onset Pulmonary Hypertension in a Six-Month-Old With Down Syndrome and Isolated Secundum Atrial Septal Defect.

Post-Transplant Pain and Paralysis: Neurologic Amyotrophy as an Atypical Cause of Shoulder Dysfunction Following Hematopoietic Stem Cell Transplant.

Familial Idiopathic Glomerular Disease due to a Unique Renal-Predominant Phenotype of MYH9-Related Disease: A Case Report.

The neural basis of frontotemporal dementia (FTD): insights from ALE meta-analyses of four FTD subtypes encompassing 8,057 patients.

Early-Onset Movement Disorder Syndrome Caused by Biallelic Variants in PDE1B Encoding Phosphodiesterase 1B.

A case of a young patient with progressive vision loss: An atypical presentation of the rare Wolfram Syndrome in a Middle Eastern individual.

Monogenic diabetes: An evidence-based clinical approach.

Integrated muti-omics data and machine learning reveal CD151 as a key biomarker inducing chemoresistance in metabolic syndrome-related early-onset left-sided colorectal cancer.

Modelling fragile X-associated neuropsychiatric disorders in young inducible 90CGG premutation mice.

Delineating the mechanisms of cerebellar degeneration in paediatric and adult primary mitochondrial disease.

Cumulative Effects of Genetic Variants Detected in a Child with Early-Onset Non-Syndromic Obesity Due to SIM-1 Gene Mutation.

Exploring neurodevelopment in CDKL5 deficiency disorder: Current insights and future directions.

A Novel TAF1C Missense Variant Causes Neurodevelopmental Regression via Disrupted Nucleolar Localization and Nucleoplasmic Aggregation.

Mitochondrial Dysfunction in Genetic and Non-Genetic Parkinson's Disease.

Novel biallelic NUP107 variants affect the nuclear pore complex and expand the clinical spectrum to include brain malformations.

A case of early epileptic encephalopathy caused by new mutation at W218C in KCNQ2 and review literature.

Biallelic variants in the RFC4 gene cause a rapidly progressive congenital myopathy with severe hypotonia and axial weakness.

Mouse NR2E3R296Q Mutation Disrupts Photoreceptor Developmental Paradigm and Leads to Early-Onset Progressive Retinal Degeneration by Suppressing RXRG Signaling.

Gonadal function in males with WFS1 spectrum disorder (Wolfram syndrome)-A European cohort perspective.

Shilla Growth Guidance Surgery for Early Onset Scoliosis: Predictors of Optimal Versus Suboptimal Performers.

Identification of a large homozygous RNF216 deletion in a Chinese patient with gordon holmes syndrome.

Early-onset Colorectal Cancer in a Patient with Li-Fraumeni Syndrome: A Case Series and Literature Review.

Correlation Between the Peak of Skin Thickness Progression Rate and Onset of Cardiopulmonary Involvement in Thai Systemic Sclerosis Patients.

Longitudinal Evolution of Posterior Cortical Atrophy: Diagnostic Delays, Overlapping Phenotypes, and Clinical Outcomes.

Biallelic Variants in EPG5 Gene Are Associated with Parkinson's Disease.

The wide phenotypic spectrum of thiamine metabolism dysfunction syndrome 5 and its treatment.

Microsatellite Stable Colorectal Tumours in Patients with Lynch Syndrome: A Case Report and Systematic Review Analysing Clinical Features and Implications for Immunotherapy.

Exploring genotype-phenotype correlation in nucleoporin nephropathy.

Kearns-Sayre syndrome presenting with progressive external ophthalmoplegia and third-degree atrioventricular block diagnostic challenge in resource-limited settings: a case report.

Identification of heart failure subtypes using transformer-based deep learning modelling: a population-based study of 379,108 individuals.

[Clinical Manifestations of Early-Onset Capillary Leak Syndrome in Patients With Multiple Organ Failure Due to Severe Acute Pancreatitis].

Ras-MAPK pathway in patients with lupus nephritis.

A Rare Vitreoretinal Degenerative Disorder: Goldmann-Favre Syndrome Complicated with Choroidal Neovascularization in a Pediatric Patient.

A systematic review of high-grade glioma associated with Li-Fraumeni syndrome.

Natural history of patients with autosomal dominant WFS1 pathogenic variants associated with sensorineural hearing loss and optic atrophy.

Semantic variant primary progressive aphasia with ANXA11 p.D40G.

GLP-1 receptor agonists-another promising therapy for Alport syndrome?

The synergistic effect of c-Myb hyperactivation and Pu.1 deficiency induces Pelger-Huët anomaly and promotes sAML.

Lurcher Mouse as a Model of Cerebellar Syndromes.

Intracranial Hemorrhage During Pregnancy: An Interdisciplinary Literature Review and a Rare Case Report of Early-Onset Eclampsia with Intracranial Hemorrhage and HELLP Syndrome.

Prevalence and Clinical Characteristics of OTOGL-Associated Hearing Loss Identified in a Cohort of 7065 Japanese Patients with Hearing Loss.

Secondary prevention of preeclampsia.

Polyamine biosynthesis dysregulation in Alzheimer's disease and Down syndrome cellular models.

Unusual hypertrophic cardiomyopathy: case report of an early onset wild-type ATTR amyloidosis accompanied by a chromosomal duplication involving the MYH6 and MYH7 gene.

Genetic risk variants implicate impaired maintenance and repair of periodontal tissues as causal for periodontitis-A synthesis of recent findings.

[Aicardi-Goutieres syndrome type 6 associated with a compound heterozygous variant in ADAR: a first case report in the Russian population].

A Knockin Model with the Mouse Equivalent to the c.2299delG Mutation in Usherin Exhibits Early-Onset Hearing Loss and Progressive Retinal Degeneration.

Pediatric Granulomatosis With Polyangiitis: A Case Report Compared to a Case Review in the Last 10 Years.

A Novel Variant in TUBB4B Causes Progressive Cone-Rod Dystrophy and Early Onset Sensorineural Hearing Loss.

19-Year Follow-up on Patients with Axenfeld-Rieger Anomaly or Syndrome and Fuchs' Endothelial Dystrophy Including the 6th Generation in a Pedigree.

Current practices in MRI screening in early onset scoliosis.

Fibrillin-1 Deficiency Perturbs Aortic Cholinergic Relaxation and Adrenergic Contraction in a Mouse Model of Early Onset Progressively Severe Marfan Syndrome.

Multi-omics analyses of early-onset familial Alzheimer's disease and Sanfilippo syndrome zebrafish models reveal commonalities in disease mechanisms.

COPA Syndrome-From Pathogenesis to Treatment.

Expanding the Clinical Spectrum of CEP290 Variants: A Case Report on Non-Syndromic Retinal Dystrophy with a Mild Phenotype.

Notch2 Inhibition and Kidney Cyst Growth in Autosomal Dominant Polycystic Kidney Disease.

[A case of rare hereditary Siddiqi syndrome with novel neuropsychiatric signs].

Infantile Hemangioma With Aggressive, Early-Onset Ulceration, and Kasabach-Merritt-Like Phenomenon in a Newborn.

RORA-neurodevelopmental disorder: A unique triad of developmental disabilities, cerebellar anomalies, and myoclonic seizures.

Two novel variants in GRN: the relevance of CNV analysis and genetic screening in FTLD patients with a negative family history.

Dysphagia in progressive supranuclear palsy: A scoping review.

Unveiling the Clinical and Imaging Signatures of Intravascular Lymphoma of the Central Nervous System: A Multicentric Cohort Study.

An Extended Phenotype of PPP1R13L Cardiocutaneous Syndrome.

WDR45-related encephalopathy mimicking Leigh syndrome associated with complex I deficiency: a case report.

Cone-Rod Dystrophy and Progressive Visual Loss as the First Manifestation of Neuronal Ceroid Lipofuscinosis Type 7: A Case Report.

Leigh Syndrome Caused by Compound Heterozygous Variants c.1162A_C and c.1138G_C in the NDUFV1 Gene: A Case Report.