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co existing charcot marie tooth disease type ii and parkinson s disease linked to a novel dnajb2 pathogenic variant
Original title: “Co-Existing Charcot-Marie-Tooth Disease Type II and Parkinson's Disease Linked to a Novel DNAjB2 Pathogenic Variant.”
electrochemotherapy in the treatment of maxillary multilobular bone tumor in a dog clinical histopathological and tomographic findings
Original title: “Electrochemotherapy in the treatment of maxillary multilobular bone tumor in a dog: clinical, histopathological, and tomographic findings.”
generation of the human induced pluripotent stem cell hipsc line aumci015 a from a heterozygous carrier of the lmna p q493x rare pathogenic variant
Original title: “Generation of the human induced pluripotent stem cell (hiPSC) line AUMCi015-A from a heterozygous carrier of the LMNA p.Q493X rare pathogenic variant.”
complete congenital agenesis of major salivary glands case report and systematic review of the literature
Original title: “Complete congenital agenesis of major salivary glands: case report and systematic review of the literature.”
clinical and molecular characterization of clear cell adenocarcinoma of the urinary tract a multi institutional study
Original title: “Clinical and Molecular Characterization of Clear Cell Adenocarcinoma of the Urinary Tract: A Multi-Institutional Study.”
heterozygous x linked alport syndrome in a pregnant woman a case report
Original title: “Heterozygous X-linked Alport syndrome in a pregnant woman: A case report.”
application of droplet digital pcr in sputum samples in myasthenia gravis patients with pneumonia
Original title: “Application of Droplet Digital PCR in Sputum Samples in Myasthenia Gravis Patients with Pneumonia.”
posterior urethral valve presenting as posterior urethral calculus in adult a rare case scenario
Original title: “Posterior urethral valve presenting as posterior urethral calculus in adult: A rare case scenario.”
current standards and perspectives in proteomics for cardiac amyloidosis
Original title: “Current Standards and Perspectives in Proteomics for Cardiac Amyloidosis.”
car t cell therapy for treatment refractory rheumatic autoimmune diseases a systematic review of clinical outcomes and safety profiles
Original title: “CAR-T cell therapy for treatment-refractory rheumatic autoimmune diseases: a systematic review of clinical outcomes and safety profiles.”
confidence based artificial intelligence pathology model for diagnosis of intrahepatic cholangiocarcinoma
Original title: “A confidence-based, artificial intelligence pathology model for diagnosis of intrahepatic cholangiocarcinoma.”
prognostic value of microrna profiles in septic patients with rare hereditary anemias insights from a longitudinal cohort study
Original title: “Prognostic Value of MicroRNA Profiles in Septic Patients with Rare Hereditary Anemias: Insights from a Longitudinal Cohort Study.”
prevalence spatial and temporal distribution of tungiasis in the kilifi health and demographic surveillance system khdss in kenya
Original title: “Prevalence, spatial and temporal distribution of tungiasis in the Kilifi Health and Demographic Surveillance System (KHDSS) in Kenya.”
surgical treatment for spinal scoliosis in patient with mitochondrial disease after heart transplantation a case report and literature review
Original title: “Surgical Treatment for Spinal Scoliosis in Patient With Mitochondrial Disease After Heart Transplantation: A Case Report and Literature Review.”
peripheral t cell lymphoma nos presenting with cavitary lung lesions mimicking invasive aspergillosis
Original title: “Peripheral T-cell lymphoma-NOS presenting with cavitary lung lesions mimicking invasive aspergillosis.”
patients with symmetric parkinson s disease do poorly with subthalamic stimulation
Original title: “Patients with symmetric Parkinson's disease do poorly with subthalamic stimulation.”
nivolumab for unresectable cutaneous epithelial malignancies an open label single arm multi centre phase ii trial nmsc pd1
Original title: “Nivolumab for unresectable cutaneous epithelial malignancies: an open-label, single-arm, multi-centre, phase II trial (NMSC-PD1).”
genotype phenotype correlation of hereditary plasminogen deficiency molecular mechanisms from 18 patients with cerebral infarction
Original title: “Genotype-Phenotype Correlation of Hereditary Plasminogen Deficiency: Molecular Mechanisms From 18 Patients With Cerebral Infarction.”
factors influencing sport induced bleeding in patients with haemophilia without inhibitors a single centre retrospective study of people born in the 2000s
Original title: “Factors Influencing Sport-Induced Bleeding in Patients With Haemophilia Without Inhibitors: A Single Centre Retrospective Study of People Born in the 2000s.”
high risk chronic lymphocytic leukemia in a young adult treated with reduced dosage fixed duration ibrutinib and venetoclax
Original title: “High-Risk Chronic Lymphocytic Leukemia in a Young Adult Treated With Reduced-Dosage, Fixed-Duration Ibrutinib and Venetoclax.”