Disease: FG syndrome
- <em>MED12</em>-Related (Neuro)Developmental Disorders: A Question of Causality
- <em>MED12</em>-Related Disorders
- A de novo variant in CASK gene causing intellectual disability and brain hypoplasia: a case report and literature review
- 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 missense variant in the CASK gene causes intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia
- Apolipoprotein B compared with low-density lipoprotein cholesterol in the atherosclerotic cardiovascular diseases risk assessment
- De novo loss-of-function variants in X-linked MED12 are associated with Hardikar syndrome in females
- Directly and ultrasensitivity detecting SARS-CoV-2 spike protein in pharyngeal swab solution by using SERS-based biosensor
- Early Onset Metastatic Colorectal Cancer: Current Insights and Clinical Management of a Rising Condition
- Effectiveness of multiple disease-modifying therapies in relapsing-remitting multiple sclerosis: causal inference to emulate a multiarm randomised trial
- Emerging role of non-coding RNA in health and disease
- Evaluation of Intra-Abdominal Hypertension Parameters in Patients with Acute Pancreatitis
- 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
- Identification of Pathogenic Mutations in Primary Microcephaly- (MCPH-) Related Three Genes <em>CENPJ</em>, <em>CASK</em>, and <em>MCPH1</em> in Consanguineous Pakistani Families
- Intellectual Disability in Two Brothers Caused by De Novo Novel Unbalanced Translocation (13;18) (q34,q23) and De Novo Microdeletion 6q25 Syndrome
- Long-term efficacy analysis of laparoscopic-assisted anorectoplasty for high and middle imperforate anus
- Management of obstructive sleep apnea syndrome type 1 in children and adolescents - A French consensus
- 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
- Monitoring, prophylaxis, and treatment of infections in patients with MM receiving bispecific antibody therapy: consensus recommendations from an expert panel
- Novel characterization of <em>CASK</em> variant <em>c.1963 A>G (p.Asn655Asp)</em> through whole-exome sequencing in a monochorionic diamniotic twin fetus with significant brain anomalies: A case report
- 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
- Rapid, ultrasensitive and highly specific diagnosis of <em>Mycoplasma pneumoniae</em> by a CRISPR-based detection platform
- Ross Syndrome in a 37-Year-Old Woman
- SARS-CoV-2 uses CD4 to infect T helper lymphocytes
- Single-cell multi-omics defines the cell-type-specific impact of splicing aberrations in human hematopoietic clonal outgrowths
- Surveillance of the small-bowel by capsule endoscopy in Lynch syndrome - A systematic review with meta-analysis
- The clinically relevant CHK1 inhibitor MK-8776 induces the degradation of the oncogenic protein PML-RARα and overcomes ATRA resistance in acute promyelocytic leukemia cells