• 20q11.2 microdeletion syndrome: a phenotypic spectrum expansion. Case report
• A Japanese patient with Teebi hypertelorism syndrome and a novel CDH11 EC1 domain variant
• A new genetic diagnosis strategy for paroxysmal kinesigenic dyskinesia: Targeted high-throughput detection of PRRT2 gene c.649 locus
• A novel homozygous synonymous splicing variant in SELENOI gene causes spastic paraplegia 81
• A novel missense variant located within the zinc finger domain of the GLI3 gene was identified in a Vietnamese pedigree with index finger polydactyly
• 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
• Association of copy number variation in X chromosome-linked PNPLA4 with heterotaxy and congenital heart disease
• Biodistribution of lentiviral transduced adipose-derived stem cells for "ex-vivo" regional gene therapy for bone repair
• Chordoma Genetic Aberrations and Targeted Therapies Panorama: A Systematic Literature Review
• 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
• Exploring the clinical utility of exome sequencing/Mono, Duo, Trio in prenatal testing: a retrospective study in a tertiary care centre in South India
• Genetics and pathophysiology of mitral valve prolapse
• Genome-wide epigenetic signatures facilitated the variant classification of PURA gene and uncovered the pathomechanism of PURA-related neurodevelopmental disorders
• 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
• Identification of two novel heterozygous variants of SMC3 with Cornelia de Lange syndrome
• 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
• MMP2 and MMP9 are associated with the pathogenesis of recurrent pregnancy loss through protein expression rather than genetic polymorphism
• Molecular analysis of 31 cases with fetal skeletal dysplasia
• 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
• Novel biallelic ZNF335 variant causing primary microcephaly: A case report and radiological review
• 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
• Relationship of thyroid function with genetic subtypes and treatment with growth hormone in Prader-Willi syndrome
• Role of <em>TBX20</em> Truncating Variants in Dilated Cardiomyopathy and Left Ventricular Noncompaction
• Seminological, Hormonal and Ultrasonographic Features of Male Factor Infertility Due to Genetic Causes: Results from a Large Monocentric Retrospective Study
• Severe Neonatal Presentation of Progressive Familial Intrahepatic Cholestasis Type 4 in an Omani Infant
• Surgical Management of Diabetic Macular Edema
• Targeted next-generation sequencing reveals the genetic mechanism of Chinese Marfan syndrome cohort with ocular manifestation
• 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