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346 results
  1. Barth syndrome: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/barth-syndrome
    ... gov Catalog of Genes and Diseases from OMIM BARTH SYNDROME; BTHS Scientific Articles on PubMed PubMed References Aprikyan AA, Khuchua Z. Advances in the understanding ...
  2. 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 ...
  3. TAFAZZIN gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/tafazzin
    ... TAFAZZIN Gene and Variant Databases NCBI Gene ClinVar References Aprikyan AA, Khuchua Z. Advances in the understanding of Barth syndrome. Br J Haematol. 2013 May;161(3):330- ...
  4. Dilated cardiomyopathy with ataxia syndrome: MedlinePlus Genetics 
    https://medlineplus.gov/...lated-cardiomyopathy-with-ataxia-syndrome
    ... TYPE V; MGCA5 Scientific Articles on PubMed PubMed ... syndrome, a novel autosomal recessive Barth syndrome-like condition. J Med Genet. 2006 May; ...
  5. DNAJC19 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/dnajc19
    ... DNAJC19 Gene and Variant Databases NCBI Gene ... DCMA syndrome, a novel autosomal recessive Barth syndrome-like condition. J Med Genet. 2006 May; ...
  6. 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. ...
  7. 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 ...
  8. Aicardi-Goutières syndrome: MedlinePlus Genetics 
    https://medlineplus.gov/.../condition/aicardi-goutieres-syndrome
    ... AGS6 AICARDI-GOUTIERES SYNDROME 8; AGS8 AICARDI-GOUTIERES SYNDROME ... Bahi-Buisson N, Bailey KM, Barnerias C, Barth M, Battini R, Beresford MW, Bernard G, Bianchi ...
  9. 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 ...
  10. 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. ...
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