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kcnv2 e151x mouse captures hallmarks of kcnv2 associated retinal dystrophy
Original title: “Kcnv2 E151X Mouse Captures Hallmarks of KCNV2-Associated Retinal Dystrophy.”
immune checkpoint inhibitor induced pancreatitis
Original title: “Immune Checkpoint Inhibitor-Induced Pancreatitis.”
focal nodular hyperplasia a rare benign liver tumour in early childhood without predisposing factors
Original title: “Focal nodular hyperplasia: a rare benign liver tumour in early childhood without predisposing factors.”
spleen stiffness measurement rules out high risk varices in patients with chronic portal vein thrombosis without cirrhosis
Original title: “Spleen stiffness measurement rules out high-risk varices in patients with chronic portal vein thrombosis without cirrhosis.”
european consortium for lipodystrophies consensus definition and classification framework for monogenic lipodystrophy
Original title: “European Consortium for Lipodystrophies consensus definition and classification framework for monogenic lipodystrophy.”
eosinophilia and hypereosinophilia a practical approach to navigating a broad differential diagnosis
Original title: “Eosinophilia and Hypereosinophilia: A Practical Approach to Navigating a Broad Differential Diagnosis.”
association of pcsk9 and ccl22 gene polymorphisms with myocardial infarction in a south indian population
Original title: “Association of PCSK9 and CCL22 gene polymorphisms with myocardial infarction in a South Indian population.”
molecular characterisation of treacher collins syndrome in a south african cohort novel disease causing variants in tcof1 and polr1d
Original title: “Molecular Characterisation of Treacher Collins Syndrome in a South African Cohort: Novel Disease-Causing Variants in TCOF1 and POLR1D.”
mitochondrial diabetes mellitus real world insights from the genomit registry a multinational longitudinal cohort study
Original title: “Mitochondrial diabetes mellitus: real world insights from the GENOMIT registry-a multinational, longitudinal cohort study.”
high dose corticosteroids in chronic histiocytic intervillositis allowing prolongation of pregnancy a case report
Original title: “High Dose Corticosteroids in Chronic Histiocytic Intervillositis Allowing Prolongation of Pregnancy: A Case Report.”
cross species single cell atlas of the striatum defines cell type and subregion disease vulnerabilities
Original title: “Cross-species single-cell atlas of the striatum defines cell-type and subregion disease vulnerabilities.”
retrograde percutaneous coronary intervention to acute left main occlusion after transcatheter aortic valve replacement
Original title: “Retrograde Percutaneous Coronary Intervention to Acute Left Main Occlusion After Transcatheter Aortic Valve Replacement.”
abdominal pain as the first manifestation of rare hematological diseases a case series
Original title: “[Abdominal Pain as the First Manifestation of Rare Hematological Diseases: A Case Series].”
new paradigms in the management of castleman disease
Original title: “New Paradigms in the Management of Castleman Disease.”
results from a phase 2 open label study evaluating the safety tolerability and effect on ataxia of glm101 in three adult patients with pmm2 cdg
Original title: “Results From a Phase 2, Open-Label Study Evaluating the Safety, Tolerability, and Effect on Ataxia of GLM101 in Three Adult Patients With PMM2-CDG.”
post transplant trajectories of the crp to albumin ratio identify a late emerging high risk phenotype in interstitial lung disease
Original title: “Post-transplant trajectories of the CRP-to-albumin ratio identify a late-emerging high-risk phenotype in interstitial lung disease.”
dissemination of bla kpc 3 harbouring klebsiella pneumoniae across st48 and st628 in multiple healthcare facilities in the republic of korea
Original title: “Dissemination of bla(KPC-3)-harbouring Klebsiella pneumoniae across ST48 and ST628 in multiple healthcare facilities in the Republic of Korea.”
low grade serous carcinoma in association with endosalpingiosis in a cervical lymph node a case report and literature review
Original title: “Low-Grade Serous Carcinoma in Association With Endosalpingiosis in a Cervical Lymph Node: A Case Report and Literature Review.”
tracking gad specific t cell expansions in type 1 diabetes by intradermal gad alum challenge
Original title: “Tracking GAD-specific T-cell expansions in Type 1 diabetes by intradermal GAD-Alum challenge.”
immune checkpoint inhibitors in relapsed refractory anaplastic large cell lymphoma alcl a case report and review of the literature
Original title: “Immune Checkpoint Inhibitors in Relapsed/Refractory Anaplastic Large Cell Lymphoma (ALCL): A Case Report and Review of the Literature.”