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genome sequencing for the diagnosis of rare disorders the brazilian rare genomes project
Original title: “Genome Sequencing for the Diagnosis of Rare Disorders: The Brazilian Rare Genomes Project.”
framework to infer de novo exonic variants when parental genotypes are missing enhances association studies of autism
Original title: “A framework to infer de novo exonic variants when parental genotypes are missing enhances association studies of autism.”
complicated intra abdominal fibromatosis masked by a perforated jejunal diverticulitis
Original title: “Complicated intra-abdominal fibromatosis masked by a perforated jejunal diverticulitis.”
x linked septin6 related congenital neutropenia and b cell deficiency
Original title: “X-linked SEPTIN6-related congenital neutropenia and B cell deficiency.”
analysing outbreak signals 2013 2024 the amsterdam umc centre for tropical medicine and travel medicine epi alert programme an observational study
Original title: “Analysing outbreak signals, 2013-2024: The amsterdam UMC centre for Tropical Medicine and Travel Medicine Epi Alert programme - an observational study.”
roadmap for supporting the development of advanced therapy medicinal products in a european framework
Original title: “A roadmap for supporting the development of advanced therapy medicinal products in a European framework.”
prospective gait analysis in patients from the french registry of glycogen storage disease type iii implications for clinical trials
Original title: “Prospective gait analysis in patients from the French registry of glycogen storage disease type III: implications for clinical trials.”
calling for diversity improving transfusion safety through high throughput blood group microarray genotyping
Original title: “Calling for Diversity: Improving Transfusion Safety Through High-Throughput Blood Group Microarray Genotyping.”
case report of a child with kidney disease consideration of the risk of a single apol1 g2 allele with a protective n264k variant on the g0 parental chromosome
Original title: “Case report of a child with kidney disease: consideration of the risk of a single APOL1 G2 allele with a protective N264K variant on the G0 parental chromosome.”
regional features in the treatment of parkinson s disease in the baltic states compared to germany
Original title: “Regional features in the treatment of Parkinson's disease in the Baltic States compared to Germany.”
ureidopropionase deficiency mimicking leigh syndrome associated with methylmalonic aciduria
Original title: “β-ureidopropionase deficiency mimicking Leigh syndrome associated with methylmalonic aciduria.”
primary lymphoma of the acromion presenting with isolated shoulder pain
Original title: “Primary lymphoma of the acromion presenting with isolated shoulder pain.”
recurrence rate and survival in 260 patients with oncocytic thyroid cancer according to response to initial treatment a single institution experience
Original title: “Recurrence Rate and Survival in 260 Patients With Oncocytic Thyroid Cancer According to Response to Initial Treatment - A Single-Institution Experience.”
diagnostic challenges in internal carotid artery fenestration a 78 year old woman presenting with transient ischemic attack a case report
Original title: “Diagnostic challenges in internal carotid artery fenestration: a 78-year-old woman presenting with transient ischemic attack-a case report.”
express longitudinal comparison of serum pancreatic lipase activity and pancreatic lipase immunoreactivity with clinical signs in cats with suspicion of pancreatitis
Original title: “EXPRESS: Longitudinal comparison of serum pancreatic lipase activity and pancreatic lipase immunoreactivity with clinical signs in cats with suspicion of pancreatitis.”
bridging the funding gap in drug development for amyotrophic lateral sclerosis
Original title: “Bridging the Funding Gap in Drug Development for Amyotrophic Lateral Sclerosis.”
immune metabolic trajectories delineate subgroups in paediatric long covid
Original title: “Immune-metabolic trajectories delineate subgroups in paediatric long COVID.”
peripheral eosinophilia in amyopathic dermatomyositis an atypical presentation with diagnostic and therapeutic implications
Original title: “Peripheral eosinophilia in amyopathic dermatomyositis: an atypical presentation with diagnostic and therapeutic implications.”
defining features of gabriele de vries syndrome in adults a case report and literature review
Original title: “Defining Features of Gabriele-de Vries Syndrome in Adults: A Case Report and Literature Review.”
navigating the diagnostic and clinical spectrum of thrombocytopenia and thrombocytopathy lessons from a case series
Original title: “Navigating the Diagnostic and Clinical Spectrum of Thrombocytopenia and Thrombocytopathy: Lessons from a Case Series.”