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325 results
  1. Barth Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK247162
    ... ClinVar TAFAZZIN Xq28 Tafazzin TAZbase: Mutation registry for Barth syndrome Human Tafazzin Gene Variants Database TAZ database TAFAZZIN TAFAZZIN Data are compiled from the following standard references: gene from HGNC ; chromosome locus from OMIM ; protein ...
  2. OPA1 gene 
    https://medlineplus.gov/genetics/gene/opa1
    ... Gueguen N, Desquiret-Dumas V, N'Guyen S, Barth M, Zanlonghi X, Rio M, Desguerre I, Barnerias C, Momtchilova M, Rodriguez D, Slama A, Lenaers G, Procaccio V, Amati-Bonneau P, Reynier P. Early-onset Behr syndrome due to compound heterozygous mutations in OPA1. Brain. ...
  3. TSEN54 Pontocerebellar Hypoplasia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK9673
    ... posted live 1 May 2009 (fb) Original submission ... J. The syndrome of autosomal recessive pontocerebellar hypoplasia, microcephaly and extrapyramidal ...
  4. Costeff Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1473
    ... in an individual of non-Iraqi Jewish origin ... [ PubMed : 11668429 ] Barth PG, Valianpour F, Bowen VM, Lam J, Duran ...
  5. NLM Digital Collections - Index-catalogue of the Library of the Surgeon General's Office, United States Army (Series 4, ... 
    Publication: Washington : U.S. G.P.O., 1936-1948
    resource.nlm.nih.gov/8104688X7
    ... I. S. Trauma and the nervous system, with special reference to head injuries and a ... Barth, H. Die Begutachtung des Kopftraumas in der Ohrenheilkunde. ...
  6. Mitochondrial Diseases 
    https://medlineplus.gov/mitochondrialdiseases.html
    ... Disease? (United Mitochondrial Disease Foundation) Specifics Overview of Barth Syndrome (Barth Syndrome Foundation) Genetics 2-hydroxyglutaric aciduria: MedlinePlus ...
  7. pdf2017MeshTreesWithChangesShown.pdf 
    https://www.nlm.nih.gov/.../2017MeshTreesWithChangesShown.pdf
    ... Alagille Syndrome Aortic Coarctation Arrhythmogenic Right Ventricular Dysplasia Barth Syndrome Cor Triatriatum Coronary Vessel Anomalies Bland White Garland ...
  8. 2019New_Mesh_Tree_Hierarchy.txt 
    https://www.nlm.nih.gov/.../download/2019New_Mesh_Tree_Hierarchy.txt
    ... Arrhythmogenic Right Ventricular Dysplasia C14.240.400.172 Barth Syndrome C14.240.400.200 Cor Triatriatum C14.240. ... Arrhythmogenic Right Ventricular Dysplasia C14.280.400.172 Barth Syndrome C14.280.400.200 Cor Triatriatum TREE_NUMBER ...
  9. pdf2016MeshTree.pdf 
    https://www.nlm.nih.gov/mesh/2016/download/2016MeshTree.pdf
    ... Arrhythmogenic Right Ventricular Dysplasia C14.240.400.172...........................................Barth Syndrome C14.240.400.200...........................................Cor Triatriatum C14.240. ...
  10. xmlmplus_topics_2025-04-05.xml 
    https://medlineplus.gov/xml/mplus_topics_2025-04-05.xml
    ... site><site ><information-category >Specifics</information-category><organization >Barth Syndrome Foundation</organization></site><site ><information-category >Genetics</information- ...
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