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22 results
  1. ... gov Catalog of Genes and Diseases from OMIM NIJMEGEN BREAKAGE SYNDROME; NBS Scientific Articles on PubMed PubMed References Dembowska-Baginska B, Perek D, Brozyna A, Wakulinska ...
  2. ... may contain more recent information. — ED. Table A. Nijmegen Breakage Syndrome: Genes and ... from the following standard references: gene from HGNC ; chromosome locus from OMIM ; protein ...
  3. ... NBN Gene and Variant Databases NCBI Gene ClinVar References Bogdanova N, Feshchenko S, Schurmann P, Waltes R, Wieland B, Hillemanns P, Rogov YI, Dammann O, Bremer M, Karstens JH, Sohn C, Varon R, Dork T. Nijmegen Breakage Syndrome mutations and risk of breast cancer. Int J ...
  4. ... T Fresno , a phenotype that combines features of Nijmegen breakage syndrome (NBS) and classic A-T [ Curry et al ... with one of the four disorders: A-T, Nijmegen breakage syndrome, Mre11 deficiency, or RAD50 deficiency; the mechanism is ...
  5. ... patients with DNA repair syndromes, including ataxia-telangiectasia, Nijmegen breakage syndrome, and constitutional mismatch repair deficiency.[ 10 ] Previous neoplasm: ...
  6. ... topic><topic ><url >https://medlineplus.gov/genetics/condition/nijmegen-breakage-syndrome</url><title >Nijmegen breakage syndrome</title><other_names >< ...
  7. ... increased chromosome breakage in response to diepoxybutane (DEB). Nijmegen breakage syndrome (NBS), characterized by short stature, progressive microcephaly with ...
  8. ... breakage 2 Progressive bone marrow failure w/pancytopenia Nijmegen breakage syndrome NBN AR Microcephaly, progressive IUGR w/postnatal short ... click here . National Library of Medicine Genetics Home Reference Warsaw breakage syndrome American Society for Deaf Children (ASDC) 800 Florida ...
  9. ... Neoplasms, Hereditary Nonpolyposis Fanconi Anemia Li-Fraumeni Syndrome Nijmegen Breakage Syndrome Rothmund-Thomson Syndrome Severe Combined Immunodeficiency Werner Syndrome ...
  10. ... 520 Li-Fraumeni Syndrome C18.452.284.600 Nijmegen Breakage Syndrome C18.452.284.760 Rothmund-Thomson Syndrome C18. ...
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