Disease: MED 23 gene defect
- A Japanese patient with Teebi hypertelorism syndrome and a novel CDH11 EC1 domain variant
- A novel homozygous synonymous splicing variant in SELENOI gene causes spastic paraplegia 81
- A somatic splice-site variant in PIK3R1 in a patient with vascular overgrowth and low immunoglobulin levels: A case report
- A systematic review regarding the prevalence of malignancy in patients with the hyper-IgE syndrome
- Aberrant HPO Axis Alterations and Autoimmune Abnormalities in PCOS Patients with DOR: A Retrospective Analysis
- Abnormal DNA methylation within genes of the steroidogenesis pathway two years after paediatric critical illness and association with stunted growth in height further in time
- Biodistribution of lentiviral transduced adipose-derived stem cells for "ex-vivo" regional gene therapy for bone repair
- Clinical and genetic characteristics of Chinese patients with Shwachman Diamond syndrome: a literature review of Chinese publication
- Clinical Characteristics and Novel <em>ZEB2</em> Gene Mutation Analysis of Three Chinese Patients with Mowat-Wilson Syndrome
- Clinical Characteristics and Novel ZEB2 Gene Mutation Analysis of Three Chinese Patients with Mowat-Wilson Syndrome
- Clinical report and genetic analysis of a Chinese patient with developmental and epileptic encephalopathy associated with novel biallelic variants in the ST3GAL3 gene
- De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay
- Desmin gene expression is not ubiquitous in all upper airway myofibers and the pattern differs between healthy and sleep apnea subjects
- DISP1 deficiency: monoallelic and biallelic variants cause a spectrum of midline craniofacial malformations
- Documentation and prevalence of prenatal and neonatal outcomes in a cohort of individuals with KBG syndrome
- Early onset critically ill infants with Schaaf-Yang syndrome: a retrospective study from the China neonatal genomes project and literature review
- Electromagnetic fields exposure on fetal and childhood abnormalities: Systematic review and meta-analysis
- Epigenetics Mechanism and Therapeutic Potential of Approved Epi-drugs in Pulmonary Hypertension Disease
- Epilepsy with faint capillary malformation or reticulated telangiectasia associated with mosaic AKT3 pathogenic variants
- Genetics and pathophysiology of mitral valve prolapse
- Genotype-Phenotype Relationship among 785 Unrelated White Women with Inherited Congenital Factor VII Deficiency: A Three-Center Database Study
- Higher sclerostin is associated with pulmonary hypertension in pre-dialysis end-stage kidney disease patients: a cross-sectional prospective observational cohort study
- Inhibition of FGF23 is a therapeutic strategy to target hematopoietic stem cell niche defects in β-thalassemia
- Investigating the shared genetic architecture of post-traumatic stress disorder and gastrointestinal tract disorders: a genome-wide cross-trait analysis
- ITRAQ-based proteomics analysis of human ectopic endometrial stromal cells treated by Maqian essential oil
- Limited impacts of biogenetic messaging on neural correlates of cognitive control and beliefs about depression
- Liver Involvement in Patients with Rare <em>MBOAT7</em> Variants and Intellectual Disability: A Case Report and Literature Review
- Meiotic and mitotic aneuploidies drive arrest of in vitro fertilized human preimplantation embryos
- Molecular crosstalk between insulin-like growth factors and follicle-stimulating hormone in the regulation of granulosa cell function
- Multi-omic analysis in normal colon organoids highlights MSH4 as a novel marker of defective mismatch repair in Lynch syndrome and microsatellite instability
- Mutation in mitral valve prolapse susceptible gene <em>DCHS1</em> causes familial mitral annular disjunction
- NR3C2 microdeletions-an underrecognized cause of pseudohypoaldosteronism type 1A: a case report and literature review
- Ocular Manifestations in Patients Affected by p63-Associated Disorders: Ectrodactyly-Ectodermal Dysplasia-Clefting (EEC) and Ankyloblepharon-Ectodermal Defects-Cleft Lip Palate (AEC) Syndromes
- Pharmacological elevation of sphingosine-1-phosphate by S1P lyase inhibition accelerates bone regeneration after post-traumatic osteomyelitis
- Phenotypic variability to medication management: an update on fragile X syndrome
- Role of <em>TBX20</em> Truncating Variants in Dilated Cardiomyopathy and Left Ventricular Noncompaction
- Severe Neonatal Presentation of Progressive Familial Intrahepatic Cholestasis Type 4 in an Omani Infant
- Surgical Management of Diabetic Macular Edema
- The genetic spectrum of congenital ocular motor apraxia type Cogan: an observational study, continued
- The mechanism of Sanzi Yangqin decoction for asthma treatment based on network pharmacology and experimental verification
- The morphology of angle dysgenesis assessed by ultrasound biomicroscopy and its relationship with glaucoma severity and mutant genes in Axenfeld-Rieger syndrome
- The use of high-resolution SNP arrays to detect congenital cardiac defects
- Uncovering genetic causes of hypophosphatemia
- Understanding recurrent pregnancy loss: recent advances on its etiology, clinical diagnosis, and management
- Williams-Beuren syndrome: a retrospective study of a series of 11 cases at the Mohammed VI University Hospital in Marrakech