Associated Papers
A case of acid sphingomyelinase deficiency type B with prominent histiocytes with engulfed nucleated cells and compound heterozygosity.
Gedallovich J et al.
Journal of Hematopathology, 2025
Genetic determinants of global developmental delay and intellectual disability in Ukrainian children.
Shchubelka K et al.
Journal of Neurodevelopmental Disorders, 2024
38539105 (PubMed )
Supplement: 11689_2024_9528_MOESM2_ESM.xlsx › Diagnosed
Evolutionary history of adenomas to colorectal cancer in FAP families.
Yang C et al.
Frontiers in Genetics, 2024
39021676 (PubMed )
Supplement: DataSheet1.ZIP › Somatic › 18R12365.xls › SNVIndel
Long-Term Evaluation of Biomarkers in the Czech Cohort of Gaucher Patients.
Malinová V et al.
International Journal of Molecular Sciences, 2023
Whole-exome sequencing identified recurrent and novel variants in benzene-induced leukemia.
Lin D et al.
Bmc Medical Genomics, 2023
36703207 (PubMed )
Supplement: 12920_2023_1442_MOESM3_ESM.xlsx › Sheet1
Evaluation of Circulating Chitotriosidase Activity in Children with Obesity.
Țaranu I et al.
Journal of Clinical Medicine, 2022
Primary ciliated muconodular papillary tumor: A rare pulmonary disease and literature review of 65 cases.
Wang Y et al.
Thoracic Cancer, 2021
Genetic analysis of sinonasal undifferentiated carcinoma discovers recurrent SWI/SNF alterations and a novel PGAP3-SRPK1 fusion gene.
Heft Neal ME et al.
Bmc Cancer, 2021
34051734 (PubMed )
Supplement: 12885_2021_8370_MOESM16_ESM.xlsx › Sheet1
Chitotriosidase as biomarker for early stage amyotrophic lateral sclerosis: a multicenter study.
Steinacker P et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2021
CSF biomarkers of neuroinflammation in distinct forms and subtypes of neurodegenerative dementia.
Abu-Rumeileh S et al.
Alzheimer's Research & Therapy, 2019
Different neuroinflammatory profile in amyotrophic lateral sclerosis and frontotemporal dementia is linked to the clinical phase.
Oeckl P et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2019
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