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A case of multisystem Erdheim-Chester disease with pericardial effusion as the first symptom: Imaging findings
Published 2023-05-01Subjects: Get full text
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Carriers of POLG1 variants require investigations for multisystem disease and for mtDNA variations
Published 2022-07-01Subjects: Get full text
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Multisystem Langerhans Cell Histiocytosis in an infant
Published 2021-07-01Subjects: Get full text
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Young woman with hypophosphatasia: A case report
Published 2022-03-01Subjects: Get full text
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Integrated imaging of systemic Langerhans cell histiocytosis in an infant
Published 2022-08-01Subjects: Get full text
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MicroRNAs are inappropriate for characterising hearing impairment in mitochondrial disorders
Published 2018-05-01Subjects: Get full text
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Mitochondrial multiorgan disorder syndrome score generated from definite mitochondrial disorders
Published 2017-10-01Subjects: “…multisystem disease…”
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Novel Phenotypic Elements of Type IV Collagenopathy Revealed by the <i>Drosophila</i> Model
Published 2019-05-01Subjects: Get full text
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Brachydactylia As A Phenotypic Feature of Mitochondrial Disorder
Published 2012-12-01Subjects: Get full text
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Brachydactylia As A Phenotypic Feature of Mitochondrial Disorder
Published 2012-12-01Subjects: Get full text
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Myotonic dystrophy-2: Unusual phenotype due to a small CCTG-expansion
Published 2018-12-01Subjects: Get full text
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Mechanisms of Impaired Lung Development and Ciliation in Mannosidase-1-Alpha-2 (Man1a2) Mutants
Published 2021-07-01Subjects: Get full text
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Exploring atypical manifestations and multisystem involvement of Epstein-Barr virus infection in hospitalized pediatric patients from Mexico: insights from a tertiary hospital (201...
Published 2024-01-01Subjects: “…Tertiary-level hospital. Multisystem disease. Atypical manifestations.…”
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Advances in management of metabolic dysfunction-associated steatotic liver disease: from mechanisms to therapeutics
Published 2024-04-01Subjects: Get full text
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Dyskeratosis congenita: natural history of the disease through the study of a cohort of patients diagnosed in childhood
Published 2023-08-01Subjects: Get full text
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KEARNS-SAYRE SYNDROME MIGHT BE MIXED UP WITH CPEO PLUS
Published 2019-01-01Subjects: Get full text
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Steinert's disease, from assumption to certainty in neurological practice
Published 2022-09-01Subjects: Get full text
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