Disease: FG syndrome 2
- <em>MED12</em>-Related (Neuro)Developmental Disorders: A Question of Causality
- A de novo splice site mutation in CASK causes FG syndrome-4 and congenital nystagmus
- A male infant with Xq22.2q22.3 duplication containing PLP1 and MID2
- A novel de novo variant in CASK causes a severe neurodevelopmental disorder that masks the phenotype of a novel de novo variant in EEF2
- A novel MED12 mutation: Evidence for a fourth phenotype
- A novel variant in MED12 gene: Further delineation of phenotype
- A polyaniline functionalized NiFeP nanosheet array-based electrochemical immunosensor using Au/Cu<sub>2</sub>O nanocubes as a signal amplifier for the detection of SARS-CoV-2 nucleocapsid protein
- Algorithm to improve the diagnosis of paraneoplastic neurological syndromes associated with SOX1 antibodies
- An <em>in vitro</em> experimental pipeline to characterize the binding specificity of SARS-CoV-2 neutralizing antibodies
- Blepharophimosis, short humeri, developmental delay and hirschsprung disease: expanding the phenotypic spectrum of MED12 mutations
- De novo loss-of-function variants in X-linked MED12 are associated with Hardikar syndrome in females
- De novo mutations in genes of mediator complex causing syndromic intellectual disability: mediatorpathy or transcriptomopathy?
- Directly and ultrasensitivity detecting SARS-CoV-2 spike protein in pharyngeal swab solution by using SERS-based biosensor
- Emerging role of non-coding RNA in health and disease
- Evaluating mismatch repair deficiency in colorectal cancer biopsy specimens
- Eye and ocular adnexa manifestations of <em>MED12</em>-related disorders
- Fetal Outcomes and Prognostic Factors After Radiofrequency Ablation for the Selective Reduction in Complicated Monochorionic Multiple Pregnancies
- Fruquintinib versus placebo in patients with refractory metastatic colorectal cancer (FRESCO-2): an international, multicentre, randomised, double-blind, phase 3 study
- GRAd-COV2 vaccine provides potent and durable humoral and cellular immunity to SARS-CoV-2 in randomized placebo-controlled phase 2 trial
- High-Performance Graphene-Modified Sensing Chip for SARS-CoV-2 Detection
- Longitudinal associations between vitamin D status and cardiometabolic risk markers among children and adolescents
- Lynch syndrome-related colorectal carcinomas are NTRK-negative
- MED12 missense mutation in a three-generation family. Clinical characterization of MED12-related disorders and literature review
- MED12 Mutation in Two Families with X-Linked Ohdo Syndrome
- Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes
- One master and two servants: One Zr(Ⅳ) with two ligands of TCPP and NH<sub>2</sub>-BDC form the MOF as the electrochemiluminescence emitter for the biosensing application
- SARS-CoV-2 uses CD4 to infect T helper lymphocytes
- Surveillance of the small-bowel by capsule endoscopy in Lynch syndrome - A systematic review with meta-analysis
- The Relationship between the Dietary Inflammatory Index (DII) and Metabolic Syndrome (MetS) in Middle-Aged and Elderly Individuals in the United States
- Two male sibs with severe micrognathia and a missense variant in MED12