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Results 1 - 10 of 29 for Rahman syndrome
  1. ... Toribe Y, Shimojima K, Yamamoto T. Tatton-Brown-Rahman syndrome due to 2p23 microdeletion. Am J Med Genet ... PubMed Ostrowski PJ, Tatton-Brown K. Tatton-Brown-Rahman Syndrome. 2022 Jun 30. In: Adam MP, Feldman J, ...
  2. ... on PubMed Central Tatton-Brown K, Cole TRP, Rahman N. Sotos Syndrome. 2004 Dec 17 [updated 2022 Dec 1]. In: ... D, Turkmen S, Cormier-Daire V, Irrthum A, Rahman N; Childhood Overgrowth Collaboration. Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations. ...
  3. ... Houlston R, Stiller C, Stratton MR, Douglas J, Rahman N. DICER1 syndrome: clarifying the diagnosis, clinical features and management implications ...
  4. ... MTATP6 NCBI Gene ClinVar Ball M, Thorburn DR, Rahman S. Mitochondrial DNA-Associated Leigh Syndrome Spectrum. 2003 Oct 30 [updated 2024 May 9]. ...
  5. ... Tolmie J, Turnpenny PD, Wright M, Douglas J, Rahman N. Mutations in CEP57 cause mosaic variegated aneuploidy syndrome. Nat Genet. 2011 Jun;43(6):527-9. ...
  6. ... KI, Cole T; Childhood Overgrowth Collaboration; Douglas J, Rahman N. Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height. Oncotarget. 2011 Dec;2( ...
  7. ... SJ, van Osch MH, Bos FL, Hanks S, Rahman N, Kops GJ. Molecular causes for BUBR1 dysfunction in the human cancer predisposition syndrome mosaic variegated aneuploidy. Cancer Res. 2010 Jun 15; ...
  8. ... PubMed Morris CA, Mervis CB, Paciorkowski AP, Abdul-Rahman O, Dugan SL, Rope AF, Bader P, Hendon LG, Velleman SL, Klein-Tasman BP, Osborne LR. 7q11.23 Duplication syndrome: Physical characteristics and natural history. Am J Med ...
  9. ... 003. Epub 2011 Feb 15. Citation on PubMed Rahman S, Blok RB, Dahl HH, Danks DM, Kirby DM, Chow CW, Christodoulou J, Thorburn DR. Leigh syndrome: clinical features and biochemical and DNA abnormalities. Ann ...
  10. ... ACUTE MYELOID; AML LYSINE ACETYLTRANSFERASE 6B; KAT6B MYELODYSPLASTIC SYNDROME; MDS NCBI Gene ClinVar Campeau PM, Kim JC, Lu JT, Schwartzentruber JA, Abdul-Rahman OA, Schlaubitz S, Murdock DM, Jiang MM, Lammer ...
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