• A novel transmembrane CXCR4 variant that expands the WHIM genotype-phenotype paradigm
• A pathogenic UFSP2 variant in an autosomal recessive form of pediatric neurodevelopmental anomalies and epilepsy
• Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy
• Clinical subtypes of premenstrual syndrome and responses to sertraline treatment
• Complex management of a patient with a contiguous Xp11.4 gene deletion involving ornithine transcarbamylase: a role for detailed molecular analysis in complex presentations of classical diseases
• De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke
• Domperidone-induced QT prolongation: add another drug to the list
• EGFR mutations cause a lethal syndrome of epithelial dysfunction with progeroid features
• G-quadruplex-mediated reduction of a pathogenic mitochondrial heteroplasmy
• Improving outcomes through collaboration
• Leucine-rich pentatricopeptide-repeat containing protein regulates mitochondrial transcription
• Mutation in the mitochondrial tRNA(Val) causes mitochondrial encephalopathy, lactic acidosis and stroke-like episodes
• Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy
• Reversal of Stroke-Like Episodes With L-Arginine and Meticulous Perioperative Management of Renal Transplantation in a Patient With Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke-Like Episodes (MELAS) Syndrome. Case Report
• Rod bipolar cell dysfunction in POLG retinopathy
• Time to relapse after short- or long-term treatment of severe premenstrual syndrome with sertraline
• Towards a consensus on diagnostic criteria, measurement and trial design of the premenstrual disorders: the ISPMD Montreal consensus