Eating Disorder Screening in Adults With Williams Syndrome: A Preliminary Report.

A Tale of Monozygotic Twins With Down Syndrome: Divergent Clinical Paths to Dementia.

The Effect of miR-1273d Between Chronic Childhood Stress and Positive Symptoms in Schizophrenia: A Preliminary Mediation Analysis.

Diets-Jongmans Syndrome due to a Novel KDM3B Variant: The First Molecularly Confirmed Case from Turkey.

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

Identification of common genetic and molecular signatures in migraine and comorbid conditions.

Treatment-related modulation of visuo-vestibular integration in post-earthquake dizziness syndrome: a longitudinal virtual reality-based study.

SHANK3 and beta-synuclein are novel blood-based biomarkers for the Phelan-McDermid Syndrome: a pilot study.

Clinical, psychological and quality of life outcomes up to 12-months following thrombosis with thrombocytopenia syndrome after ChAdOx1-S (AZD1222) vaccination in Australia.

Clinical outcomes of isolated ulnar shortening osteotomy for ulnar impaction syndrome with concomitant distal radioulnar joint instability.

Epidemiology, Comorbidities, and Healthcare Costs of Prader-Willi Syndrome in South Korea Using the Korean National Health Insurance Service Database.

Impact of pediatric gastrointestinal disorders on learning and cognitive development in schoolchildren.

The quality of life of parents of children with disabilities in Saudi Arabia: a systematic review.

Etiological Diagnosis and Disease Course of Birk-Barel Syndrome in an Adult Woman with a KCNK9 Variant.

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

Impact of autoimmune comorbidity on inflammatory activity and disability accumulation in multiple sclerosis.

Emerging disease-modifying therapies for Angelman syndrome: A comprehensive review for pediatric neurologists.

Exercise interventions for physical function, psychological health, and quality of life in patients with myalgic encephalomyelitis/chronic fatigue syndrome and fibromyalgia: A systematic review and network meta-analysis.

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

Combining blood biomarkers and the German version of the Dementia Screening Questionnaire for Individuals with Intellectual Disabilities (DSQIID-G) for diagnosing cognitive decline in Down syndrome.

Global, Regional, and National Burden of Adolescent Polycystic Ovary Syndrome from 1990 to 2021, with Projections of Disease Burden to 2041: A Systematic Analysis Based on the Global Burden of Disease Study 2021.

Postural Orthostatic Tachycardia Syndrome, Myalgic Encephalomyelitis/Chronic Fatigue Syndrome and Long COVID as Neuroimmune Disorders.

Patient- and Family-Centered Care for the Emergency Admission of a Child with Autism Spectrum Disorder.

An Overview of Ischemic Preconditioning as a Potential Therapeutic Target for Chronic Muscle Pain.

Expanding the Phenotypic Spectrum of the Recurrent De Novo FBXO31 p.Asp334Asn Variant: Evidence for a Novel Neurodevelopmental Disorder (Kruer Syndrome).

The R203W substitution drives PACS-1 syndrome by disrupting intramolecular regulation.

Children and adolescents with disorders of gut-brain interaction with comorbid hypermobility and orthostatic intolerance have worse outcomes.

Neonatal hypoxic-ischemic encephalopathy online registry in Shenzhen: protocol for a multicentre, prospective, open, observational cohort study.

Osteoarthritis and cardiometabolic diseases: shared mechanisms, modifiable risk factors, and integrated management strategies.

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

The efficacy and safety of cannabinoids for the treatment of mental disorders and substance use disorders: a systematic review and meta-analysis.

Reframing schizophrenia as a neurodevelopmental syndrome: The scientific and social imperative.

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

Acute isolated traumatic anterior pisiform dislocation in an adult: A case report.

Soft Tissue Surgical Technique for Obligate Dislocation of the Patella.

Putamen Atrophy as a Predictive Factor of Efficacy of GPi-DBS in Dystonia-Dyskinesia Syndrome Secondary to Perinatal Anoxic Encephalopathy.

Post-Intensive Care Consultation in Neuro-Injured Patients: Current Practices and Future Directions.

Contribution of astrocytic calcium signaling to auditory hypersensitivity in a mouse model of fragile X syndrome.

Cardiac rehabilitation against frailty and sarcopenia in older individuals: a literature review.

Rurality and Long-Term Outcomes after Critical Illness.

Case Report: Application of extracorporeal shockwave therapy in medial epicondylitis with concomitant ulnar nerve instability: a case series with long-term follow-up.

Impact of the LCBO strike on Ontario emergency department visits with an alcohol-related chief complaint: a natural experiment in alcohol policy.

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

The disproportionate burden of severe obesity in youth with special needs and the role of metabolic and bariatric surgery.

Precision cardiovascular medicine with big data and AI.

Outcomes of alternative therapy in HLA-B* 13:01 positive leprosy patients without dapsone versus standard MDT in negative patients: A comparative effectiveness study.

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.

Patient and parental outcomes up to 1 year after pediatric critical illness: A single-center prospective cohort study.

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

Neurological immune-related adverse events of immune-checkpoint inhibitors: an updated review.

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

Strengthening Undergraduate Medical Education for Inclusive Health Care for People With Down Syndrome and Intellectual and Developmental Disabilities in Medical Schools: Protocol for a Scoping Review.

Second-Generation and Off-the-Shelf CAR Platforms: Emerging Cardiovascular Implications of Next-Generation Cellular Immunotherapies.

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

Increased dendritic inhibition of dentate gyrus granule cells in a mouse model of Down syndrome.

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

Intensive lipid-lowering therapy-related regression of a vulnerable plaque confirmed by serial optical coherence tomography: a case report.

Influence of comorbidities, geriatric syndromes, and frailty on mortality risk by discharge destination in older adults after acute hospitalization: a nationwide cohort study.

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

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

Narrative Matters: Young people with lived experience discuss I Swear.

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

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

Definitive ileostomy in Total Colonic Aganglionosis: results and considerations from a single-center experience.

Effect of Nociceptors Hypostimulation Versus Nociceptors Hyperstimulation on Electromyography of Cervical Muscles, Myofascial Trigger Points Sensitivity, Pain, and Disability in Patients With Chronic Cervical Pain: A Randomized Double-Blinded Controlled Trial.

Illness perceptions and behavioural responses as mechanisms of change in problem-solving treatment for Veterans with Gulf War Illness.

Post-COVID-19 surge in Guillain-Barré syndrome during the Omicron wave in China with clinical characteristics and potential immune-mediated pathways.

Evaluation of locomotive syndrome in patients with ossification of the posterior longitudinal ligament at cervical spine presenting mild symptoms.

Illustrating neurological disabilities: temporal fictions in public health infographics.

Multisystem manifestations of Sjögren-Larsson syndrome in early childhood and its dental implications.

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

General aspects of rehabilitation in Guillain-Barre syndrome: A literature review.

Repeated Stress Escalates Aggression and Activity in Fronto-Limbic Regions in Cntnap2-/- Mice.

Biosignatures of cognitive basic symptoms mark a distinct neurodevelopmental pathway to schizophrenia.

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

Burden and projections of polycystic ovarian syndrome in the belt and road countries from 1990 to 2021 in the framework of predictive, preventive, and personalised medicine: Analysis based on the global burden of disease.

The Management of Evolving Neuropsychiatric Symptoms in a Female with Fragile X Syndrome: A Case Report.

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

Biallelic Novel SKOR2 Variants in Individuals With Cerebellar Hypoplasia and Intellectual Disability, Expanding the Phenotypic Spectrum of Valence-Farazi Cerebellar Ataxia Syndrome.

Tuberous sclerosis complex.

Proposed Role for Quantitative Podocyturia as a Clinical Marker of Systemic Endothelial Injury: Implications for Cardiovascular Disease and Longevity.

Association between frailty status and pain, balance, and quality of life in patients with lumbar spinal stenosis.

Transcultural Adaptation of the Spanish Version of the ABILHAND Scale for Hand Surgery in a Colombian Population of Patients with Hand Pathologies.

Ageing with Haemophilia: Comorbidities in Focus.

The spatiotemporal dynamic evolution of post-stroke neuroinflammation: energy metabolism mechanisms of acute response and chronic progression.

[Temporal and spatial pathogenesis of myocardial infarction and TCM treatment from perspective of "three-dimensional network system" of collateral disease theory].

Management of long COVID-19 in children and adolescents: from diagnosis to therapeutically approaches.

The efficacy of disease-modifying therapies in patients with clinically isolated syndrome: a systematic review and network meta-analysis.

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

[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].

Distinct Blood and Lung Proteins Drive Pulmonary Capillary Leak in Children With Severe Hypoxemic Respiratory Failure.

A single-armed pilot study to evaluate a psychosocial intervention for young people who have experienced a burn injury: The Wellbeing Study.

[Neurogenic thoracic outlet syndrome: a rare diagnosis in the pediatric population].

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

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

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

Mind and Muscle: A Retrospective Study on the Management of Psychiatric Comorbidities in Patients With Fibromyalgia Treated With Pregabalin Versus Milnacipran.

Stimulation of the medial septum diagonal band of broca rescues learning and memory deficits in Fmr1 KO mice.

Congenital first and second rib fusion causing neurogenic thoracic outlet syndrome in an adolescent.

Functional and radiological outcomes of the all-dorsal technique for scapholunate ligament reconstruction.

Feasibility of an adjunctive INtervention for Debilitating symptom complexes attributed to ticks (FIND): study protocol for a randomised, waitlist-controlled feasibility trial.

Ultrasound-guided selective nerve root blocks and caudal epidural injection in the management of lumbar radicular syndrome: a case series with one-year follow-up.

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

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

Influence of frailty syndrome on disease outcomes in systemic lupus erythematosus: a systematic review and narrative synthesis.

Impaired attention and cognitive deficits associated with pain and autonomic symptoms in hypermobile Ehlers-Danlos syndrome: a pilot study.

Disparities in the Uptake of COVID-19 Vaccination Between Māori and Non-Māori in Aotearoa New Zealand.

Validation of the sibling acceptance questionnaire among typically-developing emerging adult siblings of individuals with disabilities.

Development of an integrative cross-omics approach for conceptual adverse outcome pathway network construction.

Global Burden of Polycystic Ovary Syndrome: Socioeconomic Disparities, Reproductive Impacts, and Projections to 2050.

Expanding the Coffin-Siris syndrome spectrum: genetic, dysmorphic, and endocrine findings in eight cases.

High Metabolic Syndrome Prevalence in Down Syndrome Children: Need for New Guidelines.

[Multicomponent nurse-led intervention for the prevention of delirium in hospitalized frail older patients: PREDELENF study protocol].

Evaluating the Diagnostic Yield of Prenatal Trio Exome Sequencing in Families With a History of Developmental Delay and Intellectual Disability.

Crossing the finish line towards a disease-modifying treatment for Angelman syndrome.

Protocadherin γC4 regulates neuronal survival and dendritic self-avoidance.

Mediating effect of catastrophising in correlation between pain and disability amongst patients with carpal tunnel syndrome.

Dental Implants in Adults With Intellectual Disabilities: A Multicenter Retrospective Study. Part 1: Implant Outcomes.

WDTC1 Haploinsufficiency as a Cause of Neurodevelopmental Phenotypes.

β-Nicotinamide mononucleotide preserves muscle strength in septic male mice.

General Anesthesia for a Child With Sjögren-Larsson Syndrome.

Delayed forebrain excitatory and inhibitory neurogenesis in STRADA-related megalencephaly via mTOR hyperactivity.

Child Neurology: Multiple Genetic Etiologies Causing Dandy-Walker Variant With Microcephaly, Epilepsy, and Global Developmental Delay.

Lamb-Shaffer syndrome in a Chinese adolescent: A case report.

The TBCK-PPP1R21-FERRY3/C12orf4 complex: a RAB5-GAP brake essential for endo-lysosomal homeostasis.

Values of Individuals With Rare Genetic Neurodevelopmental Disorders and Their Family/Caregivers in Healthcare: A Scoping Review to Inform Guideline Development.

High- and Low-Level Laser Therapy for the Treatment of Orthopedic Pain: A Systematic Review.

CTNNB1-related disorders: clinical and radiological contributions from a French cohort.

Case Report: Identification of a de novo missense variant in the N-terminal zinc-finger domain of ZEB2 in a patient presenting with neurodevelopmental delay and recurrent pulmonary infections.

PRPS1 (p.V42L) Mutation in Arts Syndrome Induces Aberrant Neural Stem Cell Development and Neuronal Senescence-Like Phenotype: Rescue by Nicotinamide Mononucleotide Supplementation.

Functional Data Strengthen Clinical Validation of PhenoScore Phenotype-Guided AI for ANKRD11 Missense Variants.

Navigating challenges: a child with Apert syndrome and global developmental delay from a low-income family.

Guillain-Barré syndrome clinical characteristics and outcomes among U.S. active component service members, 2014-2022.

Update on long-term physical disability after critical illness: the burden of post-intensive care syndrome.

Radiographic Sagittal Alignment and Neurological Changes Following Conservative Cervical Structural Rehabilitation After Motor Vehicle Collision in a Patient With Pre-existing Scoliosis: A Case Report.

Clinical Insights and Statistical Analysis of Failed Back Surgery Syndrome: A Multicentric Retrospective Review.

Multiple sclerosis disability progression and predictors: A retrospective cohort study over five decades from a Canadian registry.

Bi-allelic GSPT1 variants are associated with a syndromic neurodevelopmental disorder characterized by intellectual disability and microcephaly.

Performance of the 2024 McDonald diagnostic criteria for multiple sclerosis.

Fatigue in primary and associated Sjögren's disease: similar burden, distinct determinants.

Motion Exposure, Cognitive Impairment, and Risk Factors for Mal de Débarquement Syndrome.

Community walking speed as a new predictor of disability incidence in older adults: A prospective cohort study.

Effectiveness of Modified Ulnar Metaphyseal Wedge Osteotomy in Treating Ulnar Impaction Syndrome: A Comparative Clinical Study.

Charles Bonnet Syndrome: associations between psychosocial measures and visual hallucination characteristics in the visually impaired.

Effects of pain neuroscience education plus resistance training on pain, disability, and sensitization in women with fibromyalgia syndrome: A randomized controlled trial.

Blood biomarkers of inflammation and brain-derived neurotrophic factor can not be used to assess the effectiveness of collagen mesotherapy in chronic cervical myofascial pain syndrome. A pilot single-blind randomized study.

Polydatin in respiratory diseases: multi-target mechanisms and therapeutic potential.

Myhre Syndrome Presenting With Congenital Proximal Radioulnar Synostosis: A Case Report.

Formative evaluation of PREPARE for Autistic Adults: An adult autism training for resident physicians designed with autistic adults and family members.

Fibrous Dysplasia Meets Intramuscular Myxoma: Mazabraud Syndrome-First Documented Case in Pakistan.

Metabolism-corrected propofol exposure intensity and long-term intelligence quotient in pediatric febrile infection-related epilepsy syndrome: a retrospective cohort study.

A novel variant in ARID2 causes Coffin-Siris syndrome 6 with liver cirrhosis.

Optimising SARC-F cut-off for sarcopenia screening: A comparative analysis with muscle strength and physical performance tests.

DNMT3A R882C variant in a patient with a presumed pineal gland tumor, highlighting potential tumor susceptibility in Tatton-Brown-Rahman syndrome.

Uncovering targets and molecular pathways for personalizing treatment in epilepsy.

Black parents' views and understanding of prenatal genetic testing: a cross-sectional survey of attitudes, knowledge and trust in UK healthcare.

Medicaid home and community based services are vital for adults with intellectual and developmental disabilities: A descriptive study of service use among all adult enrollees, 2022.

Transcriptome analysis of patients with loss-of-function POGZ variants in four unrelated Chinese families.

Multiple System Atrophy Combined Outcome Assessment (MuSyCA): process, format, and validation plan.

Finger Joint Releases in the Setting of Complex Regional Pain Syndrome: Worthwhile or Risky?

Identifying post-exertional malaise subtypes: Differentiating physical and mental PEM manifestations.

Dual rare genetic variants: case report of a child with SBIDDS syndrome and citrullinemia type 1.

Advanced, pharmacological and complementary interventions for chronic or recurrent orofacial pain conditions: a systematic evidence map with selective meta-analyses.

Efficacy of bumetanide for cognitive improvement in children and adolescents with Down syndrome: study protocol of a randomised, double-blind, placebo-controlled trial.

Correlations between phenotype and gene region-specific episignatures in Rubinstein-Taybi syndrome and Menke-Hennekam syndrome.

The impact of sex and gender on Fibromyalgia Syndrome: data from the Italian Fibromyalgia Registry.

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

Neuroradiological Phenotype Expansion of the Siddiqi Syndrome: A Case Report.

Normal-Appearing White Matter Injury Mediates Chronic Deep Venous Hypoxia and Disease Progression in Multiple Sclerosis.

Circulating microRNAs as biomarkers in pediatric epilepsy: A longitudinal cohort study.

A Prospective Clinical and Radiological Study of Symptomatic Upper Lumbar Disc Herniation in the Indian Population.

Recurrent Severe Hypothermia as a Manifestation of Central Thermoregulatory Dysfunction in a Patient With Cerebral Palsy and Shaken Baby Syndrome.

Postural Orthostatic Tachycardia Syndrome, Menopause and Hormone Replacement Therapy: Clinical Decisions in Times of Uncertainty.

Neuropathic Pain in Neuromyelitis Optica Spectrum Disorders: Prevalence and Management Strategies-A Systematic Review and Meta-Analysis.

Peripartum Depression as a Heart-Brain-Endocrine-Immune Syndrome: Neuroendocrine, Cardiovascular, and Inflammatory Pathways Underlying Maternal Vulnerability.

Sleep-Disordered Breathing in Chung-Jansen Syndrome.

Reassessing Benign ASXL1 Variants in Bohring-Opitz Syndrome: The Role of Population Databases in Variant Reinterpretation.

Genomics of Complex Neurodevelopmental Disorders with Variable Epilepsy Phenotypes: A Clinical Review of Dup15q Syndrome.

The Clinical Details of MYH9-Related Disease and DFNA17 in a Large Japanese Hearing Loss Cohort.

Foundations of an Ovine Model of Fragile X Syndrome.

Adaptive and Behavioral Phenotype in Pediatric 22q11.2 Deletion Syndrome: Characterizing a High-Risk Neurogenetic Copy Number Variant.

From the Optic Neuritis Treatment Trial to Antibody-Mediated Optic Neuritis: Four Decades of Progress and Unanswered Questions.

Rare Primary Headaches in Children: A Narrative Review.

Neuropsychiatric Phenotype and Treatment Challenges in 47,XYY Syndrome: A Narrative Review with a Case Series of Adolescents.

Assessing Quality of Life in PACS1 Syndrome Using the KidsLife Scale from Mothers' and Fathers' Perspectives.

Cowden Syndrome: Imaging Review and Cancer Surveillance.

Neurocardiogenetics: Exploring the association of rare RYR2 variants with neuropsychiatric disorders in general and disease populations.

Emerging role of KDM5C in X-linked intellectual disability based on human genetic data and zebrafish models.

Ultrasound-Guided Hydrodissection Combined with Acupotomy Release versus Hydrodissection Alone for Deep Gluteal Syndrome: A Retrospective Study on Short-Term Efficacy.

SFTS exerts an underrecognized disease burden and socioeconomic effect in East Asia.

Independent BRAF Fusion Genes Cause Pigmented Nevi in Ring Chromosome 7 Syndrome.

Association between admission high-sensitivity cardiac troponin T levels and clinical outcomes in acute intracerebral hemorrhage: a prospective cohort study.

Clinical Application of Turnover Lengthening of the Palmaris Longus Tendon in Modified Camitz Opponensplasty for Severe Carpal Tunnel Syndrome.

Familial pneumothorax in twins with Tatton-Brown-Rahman DNMT3A overgrowth syndrome.

Orofacial clefting in PHF6-related Börjeson-Forssman-Lehmann syndrome.