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Results 1 - 10 of 34 for TB
  1. FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome 
    ... D, Johnson MA, Biagosch CA, Shamseldin HE, Haack TB, Reyes A, Tsukikawa M, Sheldon CA, Srinivasan S, ... C, Distelmaier F, Freisinger P, Graham BH, Haack TB, Hauser N, Hertecant J, Ebrahimi-Fakhari D, Konstantopoulou ...
    https://medlineplus.gov/...thic-mitochondrial-dna-depletion-syndrome - Genetics
  2. Beta-propeller protein-associated neurodegeneration 
    ... nih.gov/books/NBK424403/ Citation on PubMed Haack TB, Hogarth P, Gregory A, Prokisch H, Hayflick SJ. ... PubMed Hayflick SJ, Kruer MC, Gregory A, Haack TB, Kurian MA, Houlden HH, Anderson J, Boddaert N, ...
    https://medlineplus.gov/...ller-protein-associated-neurodegeneration - Genetics
  3. Gaucher disease 
    ... Mignot C, Doummar D, Maire I, De Villemeur TB; French Type 2 Gaucher Disease Study Group. Type ... on PubMed Mignot C, Gelot A, De Villemeur TB. Gaucher disease. Handb Clin Neurol. 2013;113:1709- ...
    https://medlineplus.gov/genetics/condition/gaucher-disease -
  4. Perrault syndrome 
    ... W, Leal SM, Riazuddin S, King MC, Friedman TB, Newman WG. Perrault syndrome is caused by recessive ... Free article on PubMed Central Newman WG, Friedman TB, Conway GS, Demain LAM. Perrault Syndrome. 2014 Sep ...
    https://medlineplus.gov/genetics/condition/perrault-syndrome - Genetics
  5. DLG4-related synaptopathy 
    ... S, Gertler T, Giorgio E, Gruchy N, Haack TB, Haldeman-Englert CR, Haukanes BI, Hoyer J, Hurst ...
    https://medlineplus.gov/genetics/condition/dlg4-related-synaptopathy - Genetics
  6. Cryopyrin-associated periodic syndromes 
    ... Castro C, Muskardin TLW, de Oliveira JB, Niewold TB, Appenzeller S. Novel mutation in the NRLP3 manifesting ...
    https://medlineplus.gov/.../cryopyrin-associated-periodic-syndromes - Genetics
  7. Guanidinoacetate methyltransferase deficiency 
    ... Mahmutoglu S, Ndika J, Kanhai W, de Villemeur TB, Cheillan D, Christensen E, Dorison N, Hannig V, ...
    https://medlineplus.gov/...idinoacetate-methyltransferase-deficiency - Genetics
  8. Autoimmune Addison disease 
    ... infections that damage the adrenal glands, such as tuberculosis, or tumors in the adrenal glands. Addison disease ...
    https://medlineplus.gov/.../condition/autoimmune-addison-disease - Genetics
  9. Autosomal recessive primary microcephaly 
    ... Afenjar A, Alessandri JL, Andria G, de Villemeur TB, Boespflug-Tanguy O, Burglen L, Del Giudice E, ...
    https://medlineplus.gov/.../autosomal-recessive-primary-microcephaly - Genetics
  10. 17q12 deletion syndrome 
    ... B, Thygesen JH, Schwarz AJ, Didriksen M, Stensbol TB, Brammer M, Kapur S, Halldorsson JG, Hreidarsson S, ...
    https://medlineplus.gov/genetics/condition/17q12-deletion-syndrome - Genetics
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