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

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

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

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

Congenital Symptomatic Scaphoid-Trapezium Coalition in a Pediatric Patient With VACTERL Association.

Horns, nails, and leaky kidneys: A rare case of congenital nephrotic syndrome.

Experience with patients presenting with the clinical features of Holt-Oram syndrome: a single center retrospective study.

Association of Cardiovascular-Kidney-Syndrome and Brain Macrostructure and Microstructure Injury: A Prospective Cohort Study.

White matter abnormalities in metabolic syndrome patients with and without mild cognitive impairment: A diffusion tensor imaging study.

Discovery of a Pathogenic NME5 Variant Underlying Acephalic Spermatozoa Syndrome: Unraveling a Novel Genotype-Phenotype Association in Male Infertility.

Successful creation of an arteriovenous fistula and pathological evaluation of the radial artery in an end-stage kidney disease patient with Marfan syndrome: a case report.

Biallelic null RAB3GAP1 variants impair cortical development and autophagy in Warburg Micro syndrome: evidence from fetal brain tissue and patient fibroblasts.

A New Case of Nager Syndrome as a Rare Cause of Acrofacial Dysostosis.

Modeling Mowat-Wilson syndrome with patient iPSCs reveals transcriptional and phenotypic defects in neural progenitors.

Accelerated Tempo of Cortical Neurogenesis in Down Syndrome.

De novo CHD7 variant in a CHARGE syndrome preterm infant initially diagnosed as idiopathic hypogonadotropic hypogonadism: a case report and literature review.

Characterization of brain microstructural changes in children with infantile vitamin B12 deficiency using diffusion tensor imaging.

Peripapillary Retinoschisis: The Expanded Spectrum and New Insights From Multimodal Imaging.

Technical Success of Stent Placement via Transradial Approach for Aberrant Right Subclavian Artery Stenosis.

Unveiling causal relationship between white matter tracts and psychiatric disorders.

Humeroradial Synostosis: An Updated Classification and Differential Diagnosis Based on Genetic Aetiology.

Proteomic profiling of primary cilia in the developing brain uncovers new regulators of cortical development.

Diffusion kurtosis imaging biomarkers associated with amelioration of neuroinflammation, gray matter microstructural abnormalities, and gut dysbiosis by central thalamic deep brain stimulation in autistic -like young rats.

White matter abnormalities of the frontal-striatal-thalamic circuit in individuals with attenuated positive symptom syndromes: a probabilistic tractography study.

A de novo HK1 Variant in a Boy Fulfilling the Diagnostic Criteria for Tuberous Sclerosis Complex: Expanding the Phenotypic Spectrum of NEDVIBA.

A Rare Case of Bilateral Congenital Radial Head Dislocation: A Case Report.

Assessing Accuracy of Chat Generative Pre-Trained Transformer's Responses to Common Patient Questions Regarding Congenital Upper Limb Differences.

Isolated Pectoralis Major and Tricep Atrophy Secondary to Neuralgic Amyotrophy.

Ocular microvascular changes in COVID-19: role of hypoxia, D-dimer, IL-6 and systemic treatment.

Clinical, Electrical, and Mechanical Parameters in Potassium Channel-Mediated Congenital Long QT Syndrome.

Anatomical variation of the superficial branch of the radial nerve and brachioradialis tendon: a case report with embryological and clinical insights.

From Hope to Heartache: A Case Report of Treatment Failure and its Impact on a 1-year-old with Bilateral Radial Aplasia in a Resource-Limited Setting.

Deletion of sf3b4 causes splicing defects and gene dysregulation that disrupt craniofacial development and survival.

The adverse effect of metabolic syndrome on left ventricular global strains and myocardial energetic efficiency in non-ischemic dilated cardiomyopathy patients: a cardiac magnetic resonance study.

Imaging on the painful and compressed nerve: upper extremity.

Diffusion tensor imaging with free-water correction reveals distinctions between severe and attenuated subtypes in Mucopolysaccharidosis type I.

CCDC113 stabilizes sperm axoneme and head-tail coupling apparatus to ensure male fertility.

White matter organization abnormalities in adults with 47,XXX: A 7 Tesla MRI study.

An Algorithm for Management of Radial Longitudinal Deficiency.

A Rare Case of Bilateral Cubital Valgus Secondary to Congenital Anterior Radial Head Dislocation.

Mapping the amplitude and phase of dissolved 129Xe red blood cell signal oscillations with keyhole spectroscopic lung imaging.

Peak width of skeletonized mean diffusivity as a neuroimaging biomarker in first-episode schizophrenia.

Severe Phenotype With RECQL4 Syndrome: A Report of Two Cases.

Associated Anomalies in Radial Ray Deficiency.

CoA synthase plays a critical role in neurodevelopment and neurodegeneration.

RPL26 variants: A rare cause of Diamond-Blackfan anemia syndrome with multiple congenital anomalies at the forefront.

Functional characterization vs in silico prediction for TBX5 missense and splice variants in Holt-Oram syndrome.

Impact of pathogenic variants of the Ras-mitogen-activated protein kinase pathway on major white matter tracts in the human brain.

Diffusion tensor imaging in Behcet's disease with and without neurological involvement patients: evaluation of microstructural white matter abnormality with a tract-based spatial statistical analysis.

Radiological manifestations of nail-patella syndrome in a 56-year-old female: A case report.

Central Tetrapolydactyly With Atrial Septal Defect and Facial Nerve Palsy in a 15-Month-Old Female Child.

A human fetal cerebellar map of the late second trimester reveals developmental molecular characteristics and abnormality in trisomy 21.

The accessory brachioradialis muscle: prevalence of a rare variant with possible clinical implications.

[Advances in genetic research on Non-syndromic congenital joint synostosis].

White matter abnormalities in healthy E200K carriers may serve as an early biomarker for genetic Creutzfeldt-Jakob disease (gCJD).

Effects of Adapted Physical Activity on White Matter Integrity in Patients with Schizophrenia.

Increasing Severity of Radial Longitudinal Deficiency Correlates With the Degree of Proximal Ulnar Hypoplasia.

[Treatment of Congenital Ulnar Impingement Syndrome by Corrective Osteotomy of the Distal Radius - Clinical Results].

Neurophysiological and brain structural insights into cyclin-dependent kinase-like 5 deficiency disorder: Visual and auditory evoked potentials and MRI analysis.

The role of imaging in focal neuropathies.

Cartilage within lipomyelomeningocele and ulnar longitudinal deficiency syndrome as VACTERL association, alliance in SHH/GLI3, and Wnt pathway: illustrative case.

Long-term follow-up for the atypical radial longitudinal deficiency: A case report.

Superficial branch of the radial nerve passing through the supinator canal, emerging between the extensor digitorum and abductor pollicis longus muscles and consequently supplying the second finger and radial portion of the third finger: a case report and clinical implications.

Exploring the intersection of tuberous sclerosis and precocious puberty unveiled by hematocolpos.

Investigating the role connective tissue fibroblasts play in the altered muscle anatomy associated with the limb abnormality, Radial Dysplasia.

An Evaluation of Variations in the Carpal Tunnel Dimensions of Adult Subjects in a Hospital-Based Population: An Ultrasonographic Cross-Sectional Study.

Multidisciplinary approach in diagnosis and treatment of Fong disease.

Brain and cognitive changes in patients with long COVID compared with infection-recovered control subjects.

Prenatal findings in 11 cases with craniofacial microsomia using the Alberta Congenital Anomalies Surveillance System, 1997-2019.

Transcriptomic dysregulation and autistic-like behaviors in Kmt2c haploinsufficient mice rescued by an LSD1 inhibitor.

Widespread White Matter Abnormalities in Concussed Athletes Detected by 7T Diffusion Magnetic Resonance Imaging.

The first presentation of a case of nail-patella syndrome newly diagnosed at the onset of rheumatoid arthritis: a case report.

Sf3b4 mutation in Xenopus tropicalis causes RNA splicing defects followed by massive gene dysregulation that disrupt cranial neural crest development.

Microstructural white matter abnormalities in overactive bladder syndrome evaluation with diffusion kurtosis imaging tract-based spatial statistics analysis.

FEZ1 participates in human embryonic brain development by modulating neuronal progenitor subpopulation specification and migrations.

Identification of CFAP52 as a novel diagnostic target of male infertility with defects of sperm head-tail connection and flagella development.

Problems With Medium-Sized Joints: Wrist Conditions.

Gray Platelet Syndrome in a Neonate With VACTERL Association: A Novel Homozygous Pathogenic Variant c.5257C>T in the NBEAL2 Gene.

Germline PTEN genotype-dependent phenotypic divergence during the early neural developmental process of forebrain organoids.

The microstructural change of the brain and its clinical severity association in pediatric Tourette syndrome patients.

Nonfamilial VACTERL-H Syndrome in a Dizygotic Twin: Prenatal Ultrasound and Postnatal 3D CT Findings.

SALL4 Phenotype in Four Generations of One Family: An Interplay of the Upper Limb, Kidneys, and the Pituitary.

Holt-Oram syndrome: a rare clinical image.

Changes in Density of Peripapillary and Intrapapillary Capillaries on OCT Angiography in Acute Retinal Necrosis Treated by Pharmacotherapy Alone without Surgery.

What lies beneath: White matter microstructure in pediatric myalgic encephalomyelitis/chronic fatigue syndrome using diffusion MRI.

Ulnar Longitudinal Deficiency: A Case Report.

Integrative Role of the SALL4 Gene: From Thalidomide Embryopathy to Genetic Defects of the Upper Limb, Internal Organs, Cerebral Midline, and Pituitary.

Clinical Presentations and Diagnostic Imaging of VACTERL Association.

Readability of Online Patient Education Materials for Congenital Hand Differences.

Craniofacial Microsomia: New Updates in Spinal Anomalies.

Neurologic, Neuropsychologic, and Neuroradiologic Features of EBF3-Related Syndrome.

Congenital Proximal Radioulnar Synostosis in an Elite Athlete-Case Report.

Acute carpal tunnel syndrome from thrombosed persistent median artery in a patient with congenitally absent radial artery.

Clinico-radiological evaluation and management of type II radial ray defect in a young female from rural India: case report.

[Benefit of Arthroscopy in Differential Diagnostics and Therapy of Lateral Epicondylitis].

ATP7A-related copper transport disorders: A systematic review and definition of the clinical subtypes.

Spectrum of fetal limb anomalies.

Two-stage treatment of extremity deformities associated with thrombocytopenia-absent radius syndrome.

Vascular malformation rupture in a patient affected by Costello syndrome.

Clinically diverse and perinatally lethal syndromes with urorectal septum malformation sequence.

A Rare Variant and Unusual Presentation of Holt Oram Syndrome in a Child.

Platelet-rich Plasma in the Treatment of Recurrent Flexor Tenosynovitis of Wrist Complicated with Carpal Tunnel Syndrome in a Patient with Type 2 Diabetes Mellitus: A Case Report.

Epidemiology of Congenital Hand Differences at a Tertiary Hospital in Southern India - Establishment of a New Registry and Assessment Using Both the Swanson/IFSSH and the Oberg, Manske and Tonkin Classifications.

Ultra-high sensitivity cardiac troponin-I concentration and left ventricular structure and function in women with ischemia and no obstructive coronary artery disease.

White matter microstructure and the clinical risk for psychosis: A diffusion tensor imaging study of individuals with basic symptoms and at ultra-high risk.

Peripheral Nerve Innervation in Bilateral Cleft Hand Syndrome Elucidated by Ultrasound.

HGprt deficiency disrupts dopaminergic circuit development in a genetic mouse model of Lesch-Nyhan disease.

Further description of two patients with biallelic variants in NADSYN1 in association with cardiac and vertebral anomalies.

Open-wedge osteotomy for thumb radial angulation in Apert syndrome using a bone-graft substitute.

Novel FGF9 variant contributes to multiple synostoses syndrome 3.

Congenital anomalies of the tubular gastrointestinal tract.

Role of sonography in assessment of upper extremity nerve pathologies: A literature review.

Multimodal imaging of retinal findings in syndactyly, telecanthus, anogenital, and renal malformations (STAR) syndrome.

Consider differentials before diagnosing COVID-19 associated polyradiculitis.

Rhomboencephalosynapsis: Review of the Literature.

Myocardial deformation assessed by CMR in children after multisystem inflammatory syndrome (MIS-C).

Possible autosomal recessive inheritance in a neonate with Nager syndrome: Case report.

Diffusion tensor imaging for the study of early renal dysfunction in patients affected by bardet-biedl syndrome.

Nerve conduction study findings and their predictors in clinically diagnosed patients with carpal tunnel syndrome in a Saudi population.

Chromosomal aberrations after induced pluripotent stem cells reprogramming.

Brain microstructural abnormalities in 22q11.2 deletion syndrome: A systematic review of diffusion tensor imaging studies.

White matter abnormalities in a patient with visual snow syndrome: New evidence from a diffusion tensor imaging study.

Combined clinic and home-based therapeutic approach for the treatment of bilateral radial deficiency for a young child with Holt-Oram syndrome: A case report.

TBX3 and TBX5 duplication: A family with an atypical overlapping Holt-Oram/ulnar-mammary syndrome phenotype.

Immunodeficiency, Centromeric Region Instability, and Facial Anomalies Syndrome (ICF) in a Boy with Variable Clinical and Immunological Presentations.

Excess epicardial fat volume in women is a novel risk marker for microvascular dysfunction, which may be a contributing factor in the atypical chest pain syndrome.

Multiple Osteochondromas Comorbid With Enlarged Parietal Foramina, Elongated Styloid Processes, and Tibiofibular Synostosis.

Investigation of ligament, bone, synovial and plica pathologies accompanied by common extensor tendon in patients with lateral overuse syndrome of the elbow using magnetic resonance imaging.

Angiographic Findings of the Median Artery in Two Patients with Carpal Tunnel Syndrome.

Nager syndrome in patient lacking acrofacial dysostosis: Expanding the phenotypic spectrum of SF3B4-related disease.

Evaluation of Pulmonary Hypoplasia in Various Congenital Anomalies with a Comparison of Two Conventional Methods of Assessment: Radial Alveolar Count (RAC) and Lung Weight: Body Weight Ratio (LBW).

Histopathology of recurrent Steel syndrome in fetuses caused by novel variants of COL27A1 gene.

Chromosome Instability in Fanconi Anemia: From Breaks to Phenotypic Consequences.

Prevalence and risk factors of radial ray deficiencies: A population-based case-control study.

Thrombocytopenia-Absent Radius (TAR): Case report of dental implant and surgical treatment.

Abnormalities in white matter tracts in the fronto-striatal-thalamic circuit are associated with verbal performance in 22q11.2DS.

Systematic Review of the Surgical Outcomes of Elbow Plicae.

Defining Features of Hand Anomalies in Severe Thumb Hypoplasia: A Classification Modification.

Different dose of heparin in preventing radial artery occlusion after transradial coronary angiography: A protocol for systematic review and meta-analysis of randomized controlled trials.

An unusual association of Morning Glory Syndrome with chronic myeloid leukemia-Philadelphia chromosome.

Association of Radial Longitudinal Deficiency and Thumb Hypoplasia: An Update Using the CoULD Registry.

Bilateral anatomical variations in the extensor compartment of forearm and hand.

Juberg-Hayward syndrome and Roberts syndrome are allelic, caused by mutations in ESCO2.

Sensorimotor white matter projections and disease severity in primary Restless Legs Syndrome/Willis-Ekbom disease: a multimodal DTI analysis.

Unusual Triad of Bifid Median Nerve, Persistent Median Artery, and Aberrant Muscle Causing Carpal Tunnel Syndrome: A Case Report.

Disrupted white matter connectivity and organization of brain structural connectomes in tuberous sclerosis complex patients with neuropsychiatric disorders using diffusion tensor imaging.

The Radial Floating Cup radial head prosthesis to treat radial head fractures: functional and radiographic results after more than 12 years of mean follow-up.

Current concepts in the management Radial Longitudinal Deficiency.

Congenital third cranial nerve palsy with prenuclear dysinnervation involving otolithic pathways: Underpinnings of a novel congenital cranial dysinnervation disorder.

Genetic diagnoses and associated anomalies in fetuses prenatally diagnosed with esophageal atresia.

Ligase IV syndrome can present with microcephaly and radial ray anomalies similar to Fanconi anaemia plus fatal kidney malformations.

Prolonged left ventricular contraction duration in apical segments as a marker of arrhythmic risk in patients with long QT syndrome.

Metabolic syndrome and myocardium steatosis in subclinical type 2 diabetes mellitus: a 1H-magnetic resonance spectroscopy study.

A Comprehensive Review of Radiohumeral Synovial Plicae for a Correct Clinical Interpretation in Intractable Lateral Epicondylitis.

Adams Oliver syndrome: A mimicker of familial exudative vitreoretinopathy.

A Rare Cause of Hypophosphatemia: Raine Syndrome Changing Clinical Features with Age.

Corneal Abnormalities Are Novel Clinical Feature in Wolfram Syndrome.

Juberg-Hayward syndrome is a cohesinopathy, caused by mutation in ESCO2.

Functional connectivity and microstructural changes of the brain in primary Sjögren syndrome: the relationship with depression.

Severe Phenotype of APECED (APS1) Increases Risk for Structural Bone Alterations.

Individuals with nonsyndromic orofacial clefts have increased asymmetry of fingerprint patterns.

Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development.

Overlapping Clinical Syndromes in Patients with Glial Fibrillary Acidic Protein IgG.

[Left ventricular deformation in cardiac light-chain amyloidosis and hypereosinophilic syndrome. Results from the MAGYAR-Path Study].

Radial Longitudinal Deficiency: Severity Differences Between U.S. and Japanese Cohorts.

A Syrian patient with Steel syndrome due to compound heterozygous COL27A1 mutations with colobomata of the eye.

Polydactyly a review and update of a common congenital hand difference.

Transcription Factor 4 Safeguards Hippocampal Dentate Gyrus Development by Regulating Neural Progenitor Migration.

1q21.1 deletion and a rare functional polymorphism in siblings with thrombocytopenia-absent radius-like phenotypes.

Growing up with a rare genetic disease: an interpretative phenomenological analysis of living with Holt-Oram syndrome.

TGDS pathogenic variants cause Catel-Manzke syndrome without hyperphalangy.

Oculo-auriculo-vertebral spectrum with radial defects, a bifid condyle and taurodontism: A case report.

Dysmature superficial white matter microstructure in developmental focal epilepsy.

ECG analysis in patients with acute coronary syndrome undergoing invasive management: rationale and design of the electrocardiography sub-study of the MATRIX trial.

[Radial club hand prevalence at Shriners Hospital-Mexico and literature review].

Altered white matter microstructure in 22q11.2 deletion syndrome: a multisite diffusion tensor imaging study.

Retinal findings in pediatric patients with Usher syndrome Type 1 due to mutations in MYO7A gene.

Post-mortem Characterisation of a Case With an ACTG1 Variant, Agenesis of the Corpus Callosum and Neuronal Heterotopia.

Phenotypic Overlap of Roberts and Baller-Gerold Syndromes in Two Patients With Craniosynostosis, Limb Reductions, and ESCO2 Mutations.

Combined navigated drilling and arthroscopy facilitate minimally invasive surgical treatment of ulnar-radial joint dislocation caused by epiphyseal premature closure: A case report.

A novel small deletion of LMX1B in a large Chinese family with nail-patella syndrome.

Quantitative anatomy of the primary ossification center of the radial shaft in human fetuses.

The Noonan Syndrome-linked Raf1L613V mutation drives increased glial number in the mouse cortex and enhanced learning.

A rare disease with a rare presentation: hemi-atrophy caused by fibromuscular dysplasia in a 27 month old girl.

Brain MRI shows white matter sparing in Kennedy's disease and slow-progressing lower motor neuron disease.

Biventricular myocardial strain analysis using cardiac magnetic resonance feature tracking (CMR-FT) in patients with distinct types of right ventricular diseases comparing arrhythmogenic right ventricular cardiomyopathy (ARVC), right ventricular outflow-tract tachycardia (RVOT-VT), and Brugada syndrome (BrS).

Disruption of TCF4 regulatory networks leads to abnormal cortical development and mental disabilities.

Diffusion Tensor Imaging Analysis of Mild Traumatic Brain Injury and Posttraumatic Stress Disorder.

Reversible conduction failure on the deep tendon reflex response recording in early Guillain-Barré syndrome.

Holt-Oram syndrome: clinical and molecular description of 78 patients with TBX5 variants.

GPR126: A novel candidate gene implicated in autosomal recessive intellectual disability.

Associated anomalies in cases with anorectal anomalies.

Dental and Maxillofacial Signs in Leri-Weill Dyschondrosteosis.

FOXG1 Orchestrates Neocortical Organization and Cortico-Cortical Connections.

Morning glory disc anomaly and facial hemangiomas in a girl with moyamoya syndrome.

The teratogenic effects of thalidomide on limbs.

Altered white matter connectivity in patients with schizophrenia: An investigation using public neuroimaging data from SchizConnect.

Ulnar Subluxation of the Extensor Pollicis Longus Tendon as a Cause of Congenital Clasped Thumb: A Case Report.

A rare variation of intrinsic and extrinsic hand muscles represented by a bi-ventered first lumbrical extending into the carpal tunnel combined with bilateral fifth superficial flexor digitorum tendon regression.