Disease: CHARGE syndrome
- <em>In silico</em> and <em>in vitro</em> assessment of an optimized QbD-guided myoinositol and metformin-loaded mucus-penetrating particle-based gel for the amelioration of PCOS
- "Idiopathic" minimal change nephrotic syndrome: a podocyte mystery nears the end
- A feasible molecular diagnostic strategy for rare genetic disorders within resource-constrained environments
- A Mechanistic Understanding of the Modes of Ca<sup>2+</sup> Ion Binding to the SARS-CoV-1 Fusion Peptide and Their Role in the Dynamics of Host Membrane Penetration
- A nationwide survey of facial onset sensory and motor neuronopathy in Japan
- AI-based diagnosis in mandibulofacial dysostosis with microcephaly using external ear shapes
- Allogeneic Hematopoietic Cell Transplantation for Juvenile Myelomonocytic Leukemia with a Busulfan, Fludarabine, and Melphalan Regimen: JPLSG JMML-11
- Alternative routes of surfactant application - An update
- An efficient eco-friendly, simple, and green synthesis of some new spiro-N-(4-sulfamoyl-phenyl)-1,3,4-thiadiazole-2-carboxamide derivatives as potential inhibitors of SARS-CoV-2 proteases: drug-likeness, pharmacophore, molecular docking, and DFT explorati
- Anesthetic management in a Tessier cleft child with CHARGE syndrome: A new association?
- Antenatal ultrasound findings in choanal atresia: A case report and review of the literature
- Anti-infectious and anti-inflammatory effect of amniopatch in the treatment of spontaneous previable rupture of membranes
- Approche de la douleur chronique au poignet chez les adultes: Revue des pathologies courantes à l'intention des praticiens des soins primaires
- Assessing the Impact of Comorbid Hypercalcemia on Inpatient Outcomes of Patients With Diffuse Large B-cell Lymphoma During Admission for Chemotherapy
- Associated anomalies in anophthalmia and microphthalmia
- Asymmetric Schottky Barrier-Generated MoS<sub>2</sub>/WTe<sub>2</sub> FET Biosensor Based on a Rectified Signal
- Bottom-up Assembled Synthetic SARS-CoV-2 Miniviruses Reveal Lipid Membrane Affinity of Omicron Variant Spike Glycoprotein
- BRCA1/2 alterations and reversion mutations in the area of PARP inhibitors in high grade ovarian cancer: state of the art and forthcoming challenges
- Case report of scrub typhus complicated by hypokalemia and multiple organ dysfunction syndrome
- Changes in total charge on spike protein of SARS-CoV-2 in emerging lineages
- CHARGE syndrome and congenital heart diseases: systematic review of literature
- CHARGE syndrome with early fetal ear abnormalities: A case report
- CHD7 and SOX2 act in a common gene regulatory network during mammalian semicircular canal and cochlear development
- CHD7 regulates craniofacial cartilage development via controlling HTR2B expression
- CHD7 variants associated with hearing loss and enlargement of the vestibular aqueduct
- Clinical Management of Choanal Atresia
- Co-Delivery of Novel Synthetic TLR4 and TLR7/8 Ligands Adsorbed to Aluminum Salts Promotes Th1-Mediated Immunity against Poorly Immunogenic SARS-CoV-2 RBD
- Correlation of thermal burn hepatic dysfunction with outcomes
- Cortico-basal syndrome and cortico-basal degeneration: From the clinical diagnosis to the lesional substrate for an adapted care
- Deletion of the <em>chd7</em> Hinders Oligodendrocyte Progenitor Cell Development and Myelination in Zebrafish
- Dementia : current guidelines for clinical management
- Detailed analysis of inner ear malformations in CHARGE syndrome patients - correlation with audiological results and proposal for computed tomography scans evaluation methodology
- Diagnosis challenges in CHARGE syndrome: A novel variant and clinical description
- Diagnostic et prise en charge du syndrome des ovaires polykystiques
- Digenic <em>CHD7</em> and <em>SMCHD1</em> inheritance Unveils phenotypic variability in a family mainly presenting with hypogonadotropic hypogonadism
- Directive clinique n° 444 : Hirsutisme : Évaluation et traitement
- e-MUST Registry - Evaluation of prehospital medical management of STEMI in Île-de-France
- Effect of the dietary supplement PERMEAPROTECT+ TOLERANCE© on gut permeability in a human co-culture epithelial and immune cells model
- Effects of 4 Testing Arena Sizes and 11 Types of Embryo Media on Sensorimotor Behaviors in Wild-Type and <em>chd7</em> Mutant Zebrafish Larvae
- Emergency management of a young patient with ponytail syndrome
- Executive Functions in a Population of Individuals with CHARGE Syndrome: Findings from Performance-Based and Rating Scale Measures According to a 3-Factor Model
- Femoral Nailing in a Porcine Model Causes Bone Marrow Emboli in the Lungs and Systemic Emboli in the Heart and Brain
- Fetal phenotype of CHARGE syndrome with a molecular confirmation: a series of 13 cases
- French National Diagnostic and Care Protocol for antiphospholipid syndrome in adults and children
- Generation and characterization of Chd7-iCreERT2-tdTomato mice
- Giving Voice to Cardiovocal Syndrome: A 26-Year-Old Woman With Hypophonia and Dysphagia
- Goldilocks Energy Minimum: Peptide-Based Reversible Aggregation and Biosensing
- Health Behavior Adherence in a Metropolitan-Based Metabolic Syndrome Management Program during the COVID-19 Pandemic
- High seroprevalence of severe acute respiratory syndrome coronavirus 2 among healthcare workers in Yaounde, Cameroon after the first wave of Covid-19 pandemic and associated factors
- HIV/AIDS knowledge level, awareness of public health centers and related factors: a cross-sectional study among Brazilians in Japan
- Identification of key gene expression associated with quality of life after recovery from COVID-19
- In situ management of late thrombosis of a renal graft vein in a patient with Cockett syndrome
- Incidence and Predictors of Tuberculosis-associated IRIS in People With HIV Treated for Tuberculosis: Findings From Reflate TB2 Randomized Trial
- Interface-Based Design of High-Affinity Affibody Ligands for the Purification of RBD from Spike Proteins
- International survey on complications of religious fasting after metabolic and bariatric surgery
- KMT2D Deficiency Causes Sensorineural Hearing Loss in Mice and Humans
- Laser fetoscopy ablation for twin-twin transfusion syndrome may reduce the risk of ROP
- Local Net Charge State of Collagen Triple Helix Is a Determinant of FKBP22 Binding to Collagen III
- Long COVID, diagnosis and management : a survey among general practitioners in the Bas Rhin in France
- Management of an amnesic patient
- Management of heart failure at the CHU the National Reference of Ndjamena/Chad
- Mannosylated polyethylenimine-cholesterol-based nanoparticles for targeted delivery of minicircle DNA vaccine against COVID-19 to antigen-presenting cells
- Maternal CHD7 gonosomal mosaicism in a fetus with CHARGE syndrome
- Maternal Deaths due to hypertensive disorders in France, 2016-2018
- Mitigating healthcare worker risk during the COVID-19 pandemic - experience from a large tertiary maternity centre in the United Arab Emirates
- Mixed connective tissue disease and its management
- Mixed-Linkage Donor-Acceptor Covalent Organic Framework as a Turn-On Fluorescent Sensor for Aliphatic Amines
- Molecular Insights into the Variability in Infection and Immune Evasion Capabilities of SARS-CoV-2 Variants: A Sequence and Structural Investigation of the RBD Domain
- Monodactyly in a patient with CHARGE syndrome: An additional case report
- Multi-omics Investigations in Endocrine Systems and Their Clinical Implications
- Non-conditioned cord blood transplantation for infection control in athymic CHARGE syndrome
- Ocular manifestations of CHARGE syndrome in a pediatric cohort with genotype/phenotype analysis
- Persistent Trigeminal Subtype of Internal Carotid Artery Agenesis in CHARGE Syndrome
- Pharmacotherapies for insomnia
- Place of tomodensitometry in the management of acute intestinal occlusions in Dakar
- Point-of-care and traditional erythrocyte sedimentation rate, point-of-care rheometry, and cell-free DNA concentration in dogs with or without systemic inflammation
- Polyaniline/Titania Nanotube-Based Biosensor Strip for Sensitive and Specific Electrochemical Detection of SARS-CoV-2
- Polyethylenimine mediated recovery of SARS-CoV-2 and total viral RNA: Impact of aqueous conditions on behaviour and recovery
- Prediction Model for Postoperative Pressure Injury in Patients with Acute Type A Aortic Dissection
- Premenstrual dysphoric disorder (PMDD): Drug and psychotherapeutique management, a literature review
- Prenatal Diagnosis of Crossed Pulmonary Arteries with a Postnatal Diagnosis of CHARGE Syndrome
- Prenatal diagnosis of fetal digestive system malformations and pregnancy outcomes at a tertiary referral center in Fujian, China: A retrospective study
- Profound Changes in Functional Structure and Dynamics of Serum Albumin in Children with Nephrotic Syndrome: An Exploratory Research Study
- Recent Advances in Nanomaterials for the Treatment of Acute Kidney Injury
- Recent advances in the application of clay-containing hydrogels for hemostasis and wound healing
- SERS-active immunoassay kit for SARS-CoV‑2 mediated by the cooperative chemical and electromagnetic effects of MXene modified with gold nanowires
- Sexuality in Women with Fibromyalgia Syndrome: A Metasynthesis of Qualitative Studies
- SFCE harmonization workshops: Neonatal acute myeloid leukemia
- Spontaneous pneumothorax: new concepts and current management
- Studying the Effects of Dissolved Noble Gases and High Hydrostatic Pressure on the Spherical DOPC Bilayer Using Molecular Dynamic Simulations
- Support algorithm for lateral elbow pain syndrome in adults
- Syndromic Hearing Loss in Children
- The Action Potential Clamp Technique as a Tool for Risk Stratification of Sinus Bradycardia Due to Loss-of-Function Mutations in HCN4: An In Silico Exploration Based on In Vitro and In Vivo Data
- The assessment and diagnosis of intellectual disability when development is atypical. A Norwegian population study of individuals with CHARGE syndrome
- The Brain Endothelial Cell Glycocalyx Plays a Crucial Role in the Development of Enlarged Perivascular Spaces in Obesity, Metabolic Syndrome, and Type 2 Diabetes Mellitus
- The CHD family chromatin remodeling enzyme, Kismet, promotes both clathrin-mediated and activity-dependent bulk endocytosis
- The Tuberculosis Sentinel Research Network (TB-SRN) of the International epidemiology Databases to Evaluate AIDS (IeDEA): protocol for a prospective cohort study in Africa, Southeast Asia and Latin America
- Time-resolved quantitative proteomic analysis of the developing <em>Xenopus</em> otic vesicle reveals putative congenital hearing loss candidates
- Using a novel structure/function approach to select diverse swine major histocompatibility complex 1 alleles to predict epitopes for vaccine development
- Ventilatory management of SARS-CoV-2 acute respiratory failure