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recommendations for the use of clinical outcome assessments in rare disease drug development
Original title: “Recommendations for the use of clinical outcome assessments in rare disease drug development.”
pseudokeratoconus in geleophysic dysplasia a diagnostic pitfall
Original title: “Pseudokeratoconus in geleophysic dysplasia: a diagnostic pitfall.”
spontaneous rupture of renal calyx in pregnancy
Original title: “Spontaneous rupture of renal calyx in pregnancy.”
salmonella induced adnexal abscess superimposed on ovarian endometrioma and adenomyosis
Original title: “Salmonella-induced adnexal abscess superimposed on ovarian endometrioma and adenomyosis.”
clinical and pathologic findings of splenic tumours in four horses a case series
Original title: “Clinical and pathologic findings of splenic tumours in four horses: a case series.”
sexual and reproductive life in adolescents and young adults with phenylketonuria a cross sectional study
Original title: “Sexual and reproductive life in adolescents and young adults with phenylketonuria: a cross-sectional study.”
correction a rare missense variant impacting nek1 kinase function is associated with als
Original title: “Correction: A rare missense variant impacting NEK1 kinase function is associated with ALS.”
prevalence spatial distribution and economic impact of bovine cysticercosis in slaughtered animals under federal inspection in minas gerais brazil 2021 2022
Original title: “Prevalence, spatial distribution, and economic impact of bovine cysticercosis in slaughtered animals under federal inspection in Minas Gerais, Brazil (2021-2022).”
challenge of innovation in lupus between abstraction and reality
Original title: “The challenge of innovation in lupus between abstraction and reality.”
medication adherence in beh et s syndrome real world data from a tertiary referral cohort
Original title: “Medication adherence in Behçet's syndrome: real-world data from a tertiary referral cohort.”
delineation and phenotypic expansion of top3a related mitochondrial disease in childhood
Original title: “Delineation and Phenotypic Expansion of TOP3A-Related Mitochondrial Disease in Childhood.”
estimation of the genetic susceptibility prevalence of primary ciliary dyskinesia via the gnomad v4 1 0 database
Original title: “Estimation of the genetic susceptibility prevalence of primary ciliary dyskinesia via the gnomAD v4.1.0 database.”
whole genome profiling of antimicrobial resistance and virulence determinants in extensively drug resistant pseudomonas aeruginosa isolates causing ventilator associated pneumonia in egypt
Original title: “Whole-genome profiling of antimicrobial resistance and virulence determinants in extensively-drug resistant Pseudomonas aeruginosa isolates causing ventilator associated pneumonia in Egypt.”
hierarchical prototype graph with optimal transport matching for few shot rice disease recognition
Original title: “A hierarchical prototype-graph with optimal-transport matching for few-shot rice disease recognition.”
unraveling missing variants through target capture based long read sequencing in autosomal recessive disorders
Original title: “Unraveling missing variants through target capture-based long-read sequencing in autosomal recessive disorders.”
identifying patient profiles to personalize care and improve quality of life in egpa patients a national cross sectional survey
Original title: “Identifying patient profiles to personalize care and improve quality of life in EGPA patients: a national cross-sectional survey.”
substantia nigra susceptibility to volume ratio derived from qsm as a marker for discrimination of progressive supranuclear palsy from parkinson s disease and multiple system atrophy
Original title: “Substantia Nigra Susceptibility-To-Volume Ratio Derived From QSM as a Marker for Discrimination of Progressive Supranuclear Palsy From Parkinson's Disease and Multiple System Atrophy.”
4 phenylbutyric acid loaded mesoporous silica nanoparticles alleviate endoplasmic reticulum stress and reduce intraocular pressure in glaucoma model
Original title: “4-phenylbutyric acid-loaded mesoporous silica nanoparticles alleviate endoplasmic reticulum stress and reduce intraocular pressure in glaucoma model.”
diagnostic discovery of structural variants causing foveal hypoplasia using svrare and long read nanopore sequencing
Original title: “Diagnostic discovery of structural variants causing foveal hypoplasia using SVRare and long-read nanopore sequencing.”
guillain barr syndrome and its variants during covid 19 pandemic a retrospective study in iran
Original title: “Guillain-Barré syndrome and its variants during COVID-19 pandemic: a retrospective study in Iran.”