plasma proteomic trajectories before the onset of neurodegenerative diseases

Original title: “Plasma proteomic trajectories before the onset of neurodegenerative diseases.”

hydroxyl radical footprinting modification reveals an intradomain communication pathway in efl1 disrupted by a shwachman diamond syndrome associated mutation

Original title: “Hydroxyl radical footprinting modification reveals an intradomain communication pathway in EFL1 disrupted by a Shwachman-Diamond syndrome-associated mutation.”

New program will develop, validate and standardize research tools to develop more sophisticated and relevant models of disease. 

Original title: “NIH invests $150 million in human-based research to reduce use of animal models ”

reclassification of a brca2 variant c 8487g a p gln2829gln located at 3 end of exon 19 from uncertain significance to likely pathogenic based on splicing alteration a case report

Original title: “Reclassification of a BRCA2 variant, c.8487G > a (p.Gln2829Gln) located at 3' end of exon 19, from uncertain significance to likely pathogenic based on splicing alteration: a case report.”

intellectual disability causing mutations in kif11 impair microtubule dynamics and dendritic arborization

Original title: “Intellectual disability-causing mutations in KIF11 impair microtubule dynamics and dendritic arborization.”

optic atrophy associated with a mitochondrial g8363a mutation in a family

Original title: “Optic Atrophy Associated With a Mitochondrial G8363A Mutation in a Family.”

predictive atlas of disease onset from retinal fundus photographs a modelling study using data from population based cohorts

Original title: “A predictive atlas of disease onset from retinal fundus photographs: a modelling study using data from population-based cohorts.”

extra carotid arterial webs a single center series and systematic review

Original title: “Extra-Carotid Arterial Webs: A Single-Center Series and Systematic Review.”

social media listening in congenital ichthyosis quantitative and qualitative findings

Original title: “Social Media Listening in Congenital Ichthyosis: Quantitative and Qualitative Findings.”

impact of etiological shifts and the rising burden of non b non c hepatocellular carcinoma on surveillance and prognosis insights from a 20 year retrospective observational study

Original title: “Impact of Etiological Shifts and the Rising Burden of Non-B Non-C Hepatocellular Carcinoma on Surveillance and Prognosis: Insights From a 20-Year Retrospective Observational Study.”

practical consensus recommendations for polytherapy involving stiripentol in dravet syndrome a nominal group approach

Original title: “Practical consensus recommendations for polytherapy involving stiripentol in Dravet syndrome: A nominal group approach.”

germline and somatic genetic drivers of adrenocortical tumours

Original title: “Germline and somatic genetic drivers of adrenocortical tumours.”

ultrasonographic appearance of gallbladder diverticula a pictorial essay

Original title: “Ultrasonographic appearance of gallbladder diverticula: a pictorial essay.”

at the extreme limits of l dopa therapy probable dopamine dysregulation and psychiatric complications in parkinson s disease

Original title: “At the extreme limits of L-DOPA therapy: probable dopamine dysregulation and psychiatric complications in Parkinson's disease.”

adverse perinatal outcomes indicative of rhd mediated hemolytic disease of the fetus and newborn in eastern ethiopia evidence of maternal health inequity in a multicenter cohort study

Original title: “Adverse perinatal outcomes indicative of RhD-mediated hemolytic disease of the fetus and newborn in Eastern Ethiopia: evidence of maternal health inequity in a multicenter cohort study.”

immunogenetic architecture of chronic lymphocytic leukemia at early stage insights from the o cll1 cohort

Original title: “Immunogenetic Architecture of Chronic Lymphocytic Leukemia at Early Stage: Insights from the O-CLL1 Cohort.”