• <em>MED12</em>-Related (Neuro)Developmental Disorders: A Question of Causality
• <em>MED12</em>-Related Disorders
• A MicroRNA Signature in Acute Coronary Syndrome Patients and Modulation by Colchicine
• A novel MED12 pathogenic variant in a female fetus with facial cleft and cardiac defects identified in the first trimester
• Achalasia: Outcome in children
• Altered FXR signalling is associated with bile acid dysmetabolism in short bowel syndrome-associated liver disease
• Aortic coarctation and carotid artery aneurysm in a patient with Hardikar syndrome: Cardiovascular implications for affected individuals
• Association between markers of obesity and progression from Barrett's esophagus to esophageal adenocarcinoma
• Bilateral anterior compartment syndrome after routine coronary artery bypass surgery and severe hypothyroidism
• Cell-mediated rejection results in allograft loss after liver cell transplantation
• Characterization of a mouse model of ICF syndrome reveals enhanced CD19 activation in inducing hypogammaglobulinemia
• De novo loss-of-function variants in X-linked MED12 are associated with Hardikar syndrome in females
• Dysregulation of endocytic machinery and ACE2 in small airways of smokers and COPD patients can augment their susceptibility to SARS-CoV-2 (COVID-19) infections
• Efficacy and safety of maralixibat treatment in patients with Alagille syndrome and cholestatic pruritus (ICONIC): a randomised phase 2 study
• Endothelial to mesenchymal transition: a precursor to post-COVID-19 interstitial pulmonary fibrosis and vascular obliteration?
• ERCC1 mutations impede DNA damage repair and cause liver and kidney dysfunction in patients
• Functional evaluation of patient after arthroscopic repair of rotator cuff tear
• Genes for jaundice
• Hardikar syndrome
• Hardikar syndrome: a case requiring liver transplantation
• Hardikar syndrome: a new syndrome with cleft lip/palate, pigmentary retinopathy and cholestasis
• Hardikar syndrome: long term outcome of a rare genetic disorder
• Hardikar syndrome: new features
• Hyperandrogenism and Metabolic Syndrome Are Associated With Changes in Serum-Derived microRNAs in Women With Polycystic Ovary Syndrome
• Intestinal Failure and Transplant: The Australian Experience (2009 to 2014)
• Is Hardikar syndrome distinct from Kabuki (Niikawa-Kuroki) syndrome?
• Levels of circulating insulin cell-free DNA in women with polycystic ovary syndrome - a longitudinal cohort study
• Long-term outcome of autoimmune hepatitis in children
• Maffucci's syndrome--case report
• MED12 variants associated with X-linked recessive partial epilepsy without intellectual disability
• MED12-related Hardikar syndrome: Two additional cases and novel phenotypic features
• Metabolic dysfunction and obesity-related cancer: Beyond obesity and metabolic syndrome
• Metabolic dysfunction and obesity-related cancer: Results from the cross-sectional National Health and Nutrition Examination Survey
• Metabolic obesity phenotypes and obesity-related cancer risk in the National Health and Nutrition Examination Survey
• MicroRNAs as Prognostic Markers in Acute Coronary Syndrome Patients-A Systematic Review
• Multimodal Retinal Imaging Findings in Hardikar Syndrome
• Multiplatform Urinary Metabolomics Profiling to Discriminate Cachectic from Non-Cachectic Colorectal Cancer Patients: Pilot Results from the ColoCare Study
• Multisystem obstruction with cholestasis, pigmentary retinopathy, and cleft palate: a new syndrome?
• Natural history of liver disease in a large international cohort of children with Alagille syndrome: Results from the GALA study
• NOTCH2 mutations in Alagille syndrome
• Novel Anastomotic Technique for Uterine Transplant Using Utero-ovarian Veins for Venous Drainage and Internal Iliac Arteries for Perfusion in Two Laparoscopically Harvested Uteri
• Novel insights into the phenotypic spectrum and pathogenesis of Hardikar syndrome
• Physical activity and the risk of colorectal cancer in Lynch syndrome
• Structural basis of specific DNA binding by the transcription factor ZBTB24
• Successful stenting for Budd-Chiari syndrome after pediatric liver transplantation: a case series and review of the literature
• Successful treatment of cytomegalovirus-associated haemophagocytic syndrome following paediatric orthotopic liver transplantation
• The ZBTB24-CDCA7 axis regulates HELLS enrichment at centromeric satellite repeats to facilitate DNA methylation
• Transient low levels of antibodies at initial presentation of primary anti-phospholipid syndrome
• Type 2 diabetes mellitus, blood cholesterol, triglyceride and colorectal cancer risk in Lynch syndrome
• Use of daytime phototherapy for Crigler-Najjar disease