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  • Harmonization and standardization of nucleus pulposus cell extraction and culture methods
  • Nab3 nuclear granule accumulation is driven by respiratory capacity
  • Cardiovascular risk score associations with frailty in men and women with or at risk for HIV
  • Microstructural white matter abnormalities in Lesch-Nyhan disease
  • NetAct: a computational platform to construct core transcription factor regulatory networks using gene activity
  • Autism spectrum disorder symptom expression in individuals with 3q29 deletion syndrome
  • Improved correction of F508del-CFTR biogenesis with a folding facilitator and an inhibitor of protein ubiquitination
  • Health issues in women and girls affected by haemophilia with a focus on nomenclature, heavy menstrual bleeding, and musculoskeletal issues
  • Adult-Onset Type 1 Diabetes: Current Understanding and Challenges
  • Positive allosteric modulators that target NMDA receptors rectify loss-of-function GRIN variants associated with neurological and neuropsychiatric disorders
  • Oromandibular Dystonia: A Clinical Examination of 2,020 Cases
  • Clinical outcomes after 4.5 years of eliglustat therapy for Gaucher disease type 1: Phase 3 ENGAGE trial final results
  • Combined LXR and RXR Agonist Therapy Increases ABCA1 Protein Expression and Enhances ApoAI-Mediated Cholesterol Efflux in Cultured Endothelial Cells
  • A new hemophilia carrier nomenclature to define hemophilia in women and girls: Communication from the SSC of the ISTH
  • TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study
  • Lesch-Nyhan disease causes impaired energy metabolism and reduced developmental potential in midbrain dopaminergic cells
  • Vaccination reshapes the virus-specific T cell repertoire in unexposed adults
  • 1q21.1 distal copy number variants are associated with cerebral and cognitive alterations in humans
  • Family experiences and attitudes about receiving the diagnosis of sex chromosome aneuploidy in a child
  • Safety, immunological effects and clinical response in a phase I trial of umbilical cord mesenchymal stromal cells in patients with treatment refractory SLE
  • B cell reconstitution following alemtuzumab induction under a belatacept-based maintenance regimen
  • Construction of a Frailty Index as a Novel Health Measure in Systemic Lupus Erythematosus
  • Delta-secretase triggers Alzheimer's disease pathologies in wild-type hAPP/hMAPT double transgenic mice
  • Single-cell RNA-seq identifies unique transcriptional landscapes of human nucleus pulposus and annulus fibrosus cells
  • Food insecurity and frailty among women with and without HIV in the United States: a cross-sectional analysis
  • Diabetes affects endothelial cell function and alters fibrin clot formation in a microvascular flow model: A pilot study
  • CRISPR-mediated gene correction links the ATP7A M1311V mutations with amyotrophic lateral sclerosis pathogenesis in one individual
  • Non-obstructive vas deferens and epididymis loss in cystic fibrosis rats
  • Prevalence and 1-year incidence of frailty among women with and without HIV in the Women's Interagency HIV Study
  • Thymidylate synthase maintains the de-differentiated state of triple negative breast cancers
  • Hepcidin-ferroportin axis controls toll-like receptor 4 dependent macrophage inflammatory responses in human atherosclerotic plaques
  • Macrophage polarization in the maculae of age-related macular degeneration: A pilot study
  • Correlates of ADL difficulty in a large hemodialysis cohort
  • Cryptic residual GALT activity is a potential modifier of scholastic outcome in school age children with classic galactosemia
  • Epidermal growth factor receptor overexpression is a marker for adverse pathologic features in papillary thyroid carcinoma
  • Brain magnetic resonance imaging findings in 49,XXXXY syndrome
  • Myofibroblast proliferation and heterogeneity are supported by macrophages during skin repair
  • IDH1-R132H acts as a tumor suppressor in glioma via epigenetic up-regulation of the DNA damage response
  • Impact of CYP2D6 Polymorphisms on Clinical Efficacy and Tolerability of Metoprolol Tartrate
  • HCV adaptations to altered CD8(+) T-cell immunity during pregnancy
  • Metabolomic Profiling Reveals Potential Markers and Bioprocesses Altered in Bladder Cancer Progression
  • Genomic Characterization of Prenatally Detected Chromosomal Structural Abnormalities Using Oligonucleotide Array Comparative Genomic Hybridization
  • Altered gastrointestinal motility in an animal model of Lesch-Nyhan disease
  • Red blood cell minor antigen mismatches during chronic transfusion therapy for sickle cell anemia
  • Facial Curvature Detects and Explicates Ethnic Differences in Effects of Prenatal Alcohol Exposure
  • GWAS reveals loci associated with velopharyngeal dysfunction
  • The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat
  • Study protocol for The Emory 3q29 Project: evaluation of neurodevelopmental, psychiatric, and medical symptoms in 3q29 deletion syndrome
  • Further Development of a Neurobehavioral Profile of Fetal Alcohol Spectrum Disorders
  • A novel and simple method for generation of human dendritic cells from unfractionated peripheral blood mononuclear cells within 2 days: its application for induction of HIV-1-reactive CD4(+) T cells in the hu-PBL SCID mice
  • Metastatic ocular melanoma to the liver exhibits infiltrative and nodular growth patterns
  • Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS
  • NOX4-derived reactive oxygen species limit fibrosis and inhibit proliferation of vascular smooth muscle cells in diabetic atherosclerosis
  • Ellagic Acid Derivatives from Rubus ulmifolius Inhibit Staphylococcus aureus Biofilm Formation and Improve Response to Antibiotics
  • Enhanced down-regulation of ALCAM/CD166 in African-American Breast Cancer
  • Phenotypic Characterization of Juvenile Idiopathic Arthritis in African American Children
  • Correlation between epidermal growth factor receptor and tumor stem cell markers CD44/CD24 and their relationship with prognosis in breast invasive ductal carcinoma
  • Evaluation of disease burden and response to treatment in adults with type 1 gaucher disease using a validated disease severity scoring system (DS3)
  • Rapid video-referenced ratings of reciprocal social behavior in toddlers: a twin study
  • Novel features of 3q29 deletion syndrome: Results from the 3q29 registry