genome sequencing reveals high diagnostic yield in children with severe sporadic developmental language disorder

Original title: “Genome sequencing reveals high diagnostic yield in children with severe sporadic developmental language disorder.”

autoantibodies neutralizing type i interferons underlie a third of cases of chikungunya virus encephalitis or myelitis

Original title: “Autoantibodies neutralizing type I interferons underlie a third of cases of Chikungunya virus encephalitis or myelitis.”

functional analysis of 11 cyp21a2 variants reveals greater loss of enzyme activity in cis variants and improves genotype phenotype correlation in 21 hydroxylase deficiency

Original title: “Functional analysis of 11 CYP21A2 variants reveals greater loss of enzyme activity in cis variants and improves genotype-phenotype correlation in 21-hydroxylase deficiency.”

special clue for identifying primary immunodeficiency eosinophilia

Original title: “[Special clue for identifying primary immunodeficiency eosinophilia].”

dimensionality reduction enables mrd visualization in single sample flow cytometric analysis in acute leukemia

Original title: “Dimensionality reduction enables MRD visualization in single-sample flow cytometric analysis in acute leukemia.”

sequential anti cd20 monoclonal antibody and daratumumab for refractory nephrotic syndrome in 2 children

Original title: “[Sequential anti-CD20 monoclonal antibody and daratumumab for refractory nephrotic syndrome in 2 children].”

pediatric rhabdomyosarcoma in the head and neck an overview

Original title: “Pediatric Rhabdomyosarcoma in the Head and Neck: An Overview.”

sexaturn sexual function of patients with turner syndrome compared to that of women with premature ovarian insufficiency

Original title: “SEXATURN: sexual function of patients with Turner syndrome compared to that of women with premature ovarian insufficiency.”

metastatic testicular cancer complicated by myelodysplastic syndrome

Original title: “Metastatic Testicular Cancer Complicated by Myelodysplastic Syndrome.”

chronic myeloid leukaemia developing during long term alectinib therapy successfully managed with concomitant nilotinib a case report

Original title: “Chronic Myeloid Leukaemia Developing During Long-Term Alectinib Therapy Successfully Managed With Concomitant Nilotinib: A Case Report.”

critical care based decision making and timing of pregnancy termination in hypertriglyceridemia induced acute pancreatitis complicated by diabetic ketoacidosis and intrauterine fetal demise a case report

Original title: “Critical Care-Based Decision-Making and Timing of Pregnancy Termination in Hypertriglyceridemia-Induced Acute Pancreatitis Complicated by Diabetic Ketoacidosis and Intrauterine Fetal Demise: A Case Report.”

italian cartography of vexas related thrombosis

Original title: “An Italian cartography of VEXAS-related thrombosis.”

restricted tcr diversity and expansion of cd177 cd8 and tlr4 cd4 t cell subsets in septic shock associated immunosuppression a single cell multi omics study

Original title: “Restricted TCR Diversity and Expansion of CD177(+)CD8(+) and TLR4(+)CD4(+)T Cell Subsets in Septic Shock-Associated Immunosuppression: A Single-Cell Multi-Omics Study.”

gastroblastoma with multiorgan metastasis and recurrence in a child

Original title: “Gastroblastoma With Multiorgan Metastasis and Recurrence in a Child.”

diagnostic challenge of pediatric gaucher disease in a low resource south asian setting a case report

Original title: “Diagnostic Challenge of Pediatric Gaucher Disease in a Low-Resource South Asian Setting: A Case Report.”

solar retinopathy clinical diagnosis and course retrospective analysis at a german university eye clinic

Original title: “[Solar retinopathy: clinical diagnosis and course : Retrospective analysis at a German university eye clinic].”

long term outcomes of renal transplantation in patients with cystinosis

Original title: “Long-Term Outcomes of Renal Transplantation in Patients with Cystinosis.”

complete metabolic remission on pet ct following glucocorticoids monotherapy in giant cell arteritis related large vessel involvement

Original title: “Complete Metabolic Remission on PET/CT Following Glucocorticoids Monotherapy in Giant Cell Arteritis-related Large-Vessel Involvement.”