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all in the family a population scale perspective on genetic networks of autoimmune disease
Original title: “All in the family: a population-scale perspective on genetic networks of autoimmune disease.”
essential oral single nutritional therapy products for inherited metabolic diseases evidence and consensus assessment using a modified delphi method
Original title: “Essential Oral Single Nutritional Therapy Products for Inherited Metabolic Diseases: Evidence and Consensus Assessment Using a Modified Delphi Method.”
psc dm a validated clinical diagnostic model for distinguishing primary from secondary sclerosing cholangitis
Original title: “PSC-DM: A Validated Clinical Diagnostic Model for Distinguishing Primary From Secondary Sclerosing Cholangitis.”
identification of prognostic factors and regulatory pathways in porto sinusoidal vascular disorder
Original title: “Identification of Prognostic Factors and Regulatory Pathways in Porto-Sinusoidal Vascular Disorder.”
rituximab with or without chemotherapy for anti mag neuropathy a retrospective multicenter real world study
Original title: “Rituximab With or Without Chemotherapy for Anti-MAG Neuropathy: A Retrospective Multicenter Real-World Study.”
chinese expert consensus on the clinical application of lung biopsy in interstitial lung disease
Original title: “[Chinese expert consensus on the clinical application of lung biopsy in interstitial lung disease].”
biallelic pigb variants cause motor neuropathy with conduction blocks and peripheral nerve hyperexcitability
Original title: “Biallelic PIGB Variants Cause Motor Neuropathy with Conduction Blocks and Peripheral Nerve Hyperexcitability.”
cryopreservation disrupts trim21 mediated akap3 ubiquitination and triggers stress granule formation in human sperm
Original title: “Cryopreservation Disrupts TRIM21-Mediated AKAP3 Ubiquitination and Triggers Stress Granule Formation in Human Sperm.”
cervicothoracic dumbbell ganglioneuroblastoma with spinal canal involvement and bone marrow metastasis a case report and systematic review
Original title: “Cervicothoracic dumbbell ganglioneuroblastoma with spinal canal involvement and bone marrow metastasis: a case report and systematic review.”
mc1r variants in four chinese children with red hair and hypopigmentation
Original title: “MC1R variants in four Chinese children with red hair and hypopigmentation.”
personalized drug discovery from rare diseases to cancer
Original title: “Personalized drug discovery from rare diseases to cancer.”
correction risk factors for early poor outcomes in in hospital intracranial hemorrhage a retrospective cohort study
Original title: “Correction: Risk Factors for Early Poor Outcomes in In-hospital Intracranial Hemorrhage: A Retrospective Cohort Study.”
thalamic tuberculoma presenting as isolated gait disturbance without systemic or meningeal symptoms in a 2 year old child a case report
Original title: “Thalamic Tuberculoma Presenting as Isolated Gait Disturbance Without Systemic or Meningeal Symptoms in a 2-Year-Old Child: A Case Report.”
strengthening rare disease data readiness a semantic approach to cross registry interoperability
Original title: “Strengthening Rare Disease Data Readiness: a semantic approach to cross-registry interoperability.”
saprochaete pneumonia presenting as septic shock in an elderly patient with poorly controlled diabetes mellitus
Original title: “Saprochaete pneumonia presenting as septic shock in an elderly patient with poorly controlled diabetes mellitus.”
unsupervised clustering of undifferentiated systemic autoinflammatory diseases usaid
Original title: “Unsupervised clustering of undifferentiated systemic autoinflammatory diseases (USAID).”
from delayed recognition to long term disease control eltrombopag in severe myh9 related disease
Original title: “From delayed recognition to long-term disease control: Eltrombopag in severe MYH9-related disease.”
long term clinical and biomarker observations following rituximab exposure in two siblings with csf1r related leukoencephalopathy a preliminary familial case series
Original title: “Long-term clinical and biomarker observations following rituximab exposure in two siblings with CSF1R-related leukoencephalopathy: a preliminary familial case series.”
lung as an autoimmune organ from mucosal tolerance breach to ai enabled interception
Original title: “The lung as an autoimmune organ: From mucosal tolerance breach to AI-enabled interception.”
international recommendations for child to adult care transition in rare neurological diseases a scoping review and delphi consensus study
Original title: “International recommendations for child to adult care transition in rare neurological diseases: A scoping review and Delphi consensus study.”