• A Case of Lateral Meningocele Syndrome without Lateral Meningoceles
• A functional genomics pipeline identifies pleiotropy and cross-tissue effects within obesity-associated GWAS loci
• A Novel Missense Variant in PHF6 Gene Causing Borjeson-Forssman-Lehman Syndrome
• Achenbach syndrome as a rare cause of painful, blue finger
• Allelic variation in class I HLA determines CD8⁺ T cell repertoire shape and cross-reactive memory responses to SARS-CoV-2
• An antibody to Notch3 reverses the skeletal phenotype of lateral meningocele syndrome in male mice
• Antisense oligonucleotides targeting a NOTCH3 mutation in male mice ameliorate the cortical osteopenia of lateral meningocele syndrome
• Antiviral activity of aframomum melegueta against severe acute respiratory syndrome coronaviruses type 1 and 2
• Apolipoprotein B, Residual Cardiovascular Risk After Acute Coronary Syndrome, and Effects of Alirocumab
• Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment
• Can leaky splicing and evasion of premature termination codon surveillance contribute to the phenotypic variability in Alkuraya-Kucinskas syndrome?
• Can tandem alternative splicing and evasion of premature termination codon surveillance contribute to attenuated Peutz-Jeghers syndrome?
• Care management in a French cohort with Down syndrome from the AnDDI-Rares/CNSA study
• Clinical Characteristics of Patients with Gait Instability after MR-Guided Focused Ultrasound Thalamotomy
• Comparison of nucleocapsid and spike antibody ELISAs for determining SARS-CoV-2 seropositivity in Kenyan women and infants
• Comparison of Stroke Risk Factors between Symptomatic and Asymptomatic Patients in a North American Moyamoya Disease Cohort
• Contextualising adverse events of special interest to characterise the baseline incidence rates in 24 million patients with COVID-19 across 26 databases: a multinational retrospective cohort study
• Craniosynostosis of the Metopic Suture in a Patient With CADASIL/Lehman Syndrome
• Cutaneous involvement in VEXAS syndrome: clinical and histopathologic findings
• Delivering a new diagnosis of Down syndrome: Parent experience
• Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type compared to other heritable connective tissue disorders
• Does Routine Subspecialty Consultation Before High-Risk Pediatric Spine Surgery Decrease the Incidence of Complications?
• Dominant negative variants in <em>IKZF2</em> cause ICHAD syndrome, a new disorder characterised by immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay
• Downregulation of the GHRH/GH/IGF1 axis in a mouse model of Borjeson-Forssman-Lehman syndrome
• Early diagnosis of lateral meningocele syndrome in an infant without neurological symptoms based on genomic analysis
• Efficacy and Safety of Elamipretide in Individuals With Primary Mitochondrial Myopathy: The MMPOWER-3 Randomized Clinical Trial
• Efficacy of the mRNA-1273 SARS-CoV-2 Vaccine at Completion of Blinded Phase
• Elevated binding and functional antibody responses to SARS-CoV-2 in infants versus mothers
• Elevated binding and functional antibody responses to SARS-CoV-2 in infants versus mothers
• Evaluation of the Effectiveness of Therapy for Anxiety in Williams Beuren Syndrome Using a Smartphone App: Protocol for a Single-Case Experiment
• Examining relationships between state and trait psychotic symptoms and quality of life in schizophrenia spectrum disorders
• Expansion of the phenotype of lateral meningocele syndrome
• Extracellular vesicles released by human retinal pigment epithelium mediate increased polarised secretion of drusen proteins in response to AMD stressors
• First reports of primary ciliary dyskinesia caused by a shared DNAH11 allele in Canadian Inuit
• Genetic obesity syndromes
• Getting back to normal? Identity and role disruptions among adults with Long COVID
• Griffithsin and Carrageenan Combination Results in Antiviral Synergy against SARS-CoV-1 and 2 in a Pseudoviral Model
• Hdac1 and Hdac2 positively regulate Notch1 gain-of-function pathogenic signaling in committed osteoblasts of male mice
• Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism
• Household Transmission of Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) Alpha Variant-United States, 2021
• Hypertension after multisystem inflammatory syndrome in children (MIS-C)
• In vivo imaging of the GnRH pulse generator reveals a temporal order of neuronal activation and synchronization during each pulse
• Increase in Colorado Tick Fever Virus Disease Cases and Effect of COVID-19 Pandemic on Behaviors and Testing Practices, Montana, 2020
• Increased Ca²⁺ Transient Underlies RyR2-Related Left Ventricular Noncompaction
• Induction of a NOTCH3 Lehman syndrome mutation in osteocytes causes osteopenia in male C57BL/6J mice
• Infantile Presentation of Lehman Syndrome with Multiple Lateral Meningoceles, Dural Ectasias, and Herniation of Conus: A Rare Case Report
• International Prevalence and Mechanisms of SARS-CoV-2 in Childhood Arterial Ischemic Stroke During the COVID-19 Pandemic
• Intraepithelial autoimmune blistering dermatoses: Clinical features and diagnosis
• Intraepithelial autoimmune bullous dermatoses disease activity assessment and therapy
• Laboratory Medicine and Pathology Education During the COVID-19 Pandemic-Lessons Learned
• Late diagnosis of lateral meningocele syndrome in a 55-year-old woman with symptoms of joint instability and chronic musculoskeletal pain
• LATERAL ENCEPHALOCELE
• Lateral meningocele (Lehman) syndrome: A child with a novel NOTCH3 mutation
• Lateral meningocele syndrome and Hajdu-Cheney syndrome: different disorders with overlapping phenotypes
• Lateral meningocele syndrome: additional report and further evidence supporting a connective tissue basis
• Lateral meningocele syndrome: vertical transmission and expansion of the phenotype
• Left hand extensor tenosynovitis due to <em>Histoplasma capsulatum</em> complicated by immune reconstitution inflammatory syndrome
• Lehman syndrome: a new syndrome for pierre robin sequence
• Lipoprotein(a) and Benefit of PCSK9 Inhibition in Patients With Nominally Controlled LDL Cholesterol
• Macrocytosis in Mitochondrial DNA Deletion Syndromes
• Management of lateral meningocele syndrome in a child without neurological symptoms and literature review
• Mastocytosis and melanoma: a case series
• Metabolomic Fingerprint of Mecp2-Deficient Mouse Cortex: Evidence for a Pronounced Multi-Facetted Metabolic Component in Rett Syndrome
• Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes
• Mitochondrial Proteome Changes in Rett Syndrome
• MOMO Syndrome with Holoprosencephaly and Cryptorchidism: Expanding the Spectrum of the New Obesity Syndrome
• Neurosurgical management in lateral meningocele syndrome: case report
• Neurosurgical Management of Lateral Meningocele Syndrome: A Clinical Update for the Pediatric Neurosurgeon
• Notch Pathway and Inherited Diseases: Challenge and Promise
• NOTCH1 loss of the TAD and PEST domain: An antimorph?
• Novel CIC variants identified in individuals with neurodevelopmental phenotypes
• Novel findings and expansion of phenotype in a mosaic RASopathy caused by somatic KRAS variants
• Nucleic acid biomarkers of immune response and cell and tissue damage in children with COVID-19 and MIS-C
• Obesity-induced vena cava compression syndrome: a case report of a rare precipitant of a type 2 myocardial infarction in a patient with critical aortic stenosis
• Pediatric Moyamoya Syndrome Secondary to Tuberculous Meningitis: A Case Report
• Pharmacological resources, diagnostic approach and coordination of care in joint hypermobility-related disorders
• PHF6 interacts with the nucleosome remodeling and deacetylation (NuRD) complex
• Practical guidance for the diagnosis and management of secondary hypogammaglobulinemia: A Work Group Report of the AAAAI Primary Immunodeficiency and Altered Immune Response Committees
• Precise detection of a murine germline mutation of the <em>Notch3</em> gene associated with kyphosis and developmental disorders
• Prenatal Androgen Exposure Alters KNDy Neurons and Their Afferent Network in a Model of Polycystic Ovarian Syndrome
• Prenatal androgen treatment impairs the suprachiasmatic nucleus arginine-vasopressin to kisspeptin neuron circuit in female mice
• Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders
• Rare disorders have many faces: in silico characterization of rare disorder spectrum
• Relation of Lipoprotein(a) Levels to Incident Type 2 Diabetes and Modification by Alirocumab Treatment
• Respiratory Infections in Patients with Primary Immunodeficiency
• Study protocol of a randomized controlled trial comparing two linkage models for HIV prevention and treatment in justice-involved persons
• Syndromes, disorders and maternal risk factors associated with neural tube defects (II)
• The Borjeson-Forssman-Lehman syndrome (BFLS, MIM #301900)
• The developmental biology of genetic Notch disorders
• The lateral meningocele syndrome mutation causes marked osteopenia in mice
• The Phenomenology of Tics and Tic-Like Behavior in TikTok
• The Pro-Inflammatory Chemokines CXCL9, CXCL10 and CXCL11 Are Upregulated Following SARS-CoV-2 Infection in an AKT-Dependent Manner
• The Skeleton of Lateral Meningocele Syndrome
• Titration of Ventilator Settings to Target Driving Pressure and Mechanical Power
• Troponin elevation pattern and subsequent cardiac and non-cardiac outcomes: Implementing the Fourth Universal Definition of Myocardial Infarction and high-sensitivity troponin at a population level
• Truncating mutations in the last exon of NOTCH3 cause lateral meningocele syndrome
• Twelve-Month Outcomes of Patients With Myocardial Injury not Due to Type-1 Myocardial Infarction
• Use of antisense oligonucleotides to target Notch3 in skeletal cells
• Vessel wall imaging features of Moyamoya disease in a North American population: patterns of negative remodelling, contrast enhancement, wall thickening, and stenosis
• What Radiographic and Clinical Factors Ultimately Necessitate a C2-Sacrum Instrumented Posterior Spinal Fusion?