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Results 1 - 10 of 82 for Nelson syndrome
  1. Shwachman-Diamond syndrome 
    ... 6. Epub 2019 Dec 23. Citation on PubMed Nelson A, Myers K. Shwachman-Diamond Syndrome. 2008 Jul 17 [updated 2024 Sep 19]. In: ...
    https://medlineplus.gov/.../condition/shwachman-diamond-syndrome - Genetics
  2. Episodic ataxia 
    ... on PubMed Kerber KA, Jen JC, Lee H, Nelson SF, Baloh RW. A new episodic ataxia syndrome with linkage to chromosome 19q13. Arch Neurol. 2007 ...
    https://medlineplus.gov/genetics/condition/episodic-ataxia - Genetics
  3. KBG syndrome 
    ... Tegay D, Ward K, Maughan A, Maughan G, Nelson L, Wang K, Robison R, Lyon GJ. KBG syndrome involving a single-nucleotide duplication in ANKRD11. Cold ...
    https://medlineplus.gov/genetics/condition/kbg-syndrome - Genetics
  4. Lowe syndrome 
    ... Attree O, Olivos IM, Okabe I, Bailey LC, Nelson DL, Lewis RA, McInnes RR, Nussbaum RL. The Lowe's oculocerebrorenal syndrome gene encodes a protein highly homologous to inositol ...
    https://medlineplus.gov/genetics/condition/lowe-syndrome - Genetics
  5. OCRL gene 
    ... Attree O, Olivos IM, Okabe I, Bailey LC, Nelson DL, Lewis RA, McInnes RR, Nussbaum RL. The Lowe's oculocerebrorenal syndrome gene encodes a protein highly homologous to inositol ...
    https://medlineplus.gov/genetics/gene/ocrl - Genetics
  6. X-linked thrombocytopenia 
    ... Mella P, Gandellini F, Stewart DM, Zhu Q, Nelson DL, Notarangelo LD, Ochs HD. Mutations of the Wiskott-Aldrich Syndrome Protein (WASP): hotspots, effect on transcription, and translation ...
    https://medlineplus.gov/genetics/condition/x-linked-thrombocytopenia - Genetics
  7. Autosomal dominant hyper-IgE syndrome 
    ... Allergy Clin Immunol. 2014 Apr;133(4):1232. Nelson, Celeste G [added]. Citation on PubMed or Free article on PubMed Central
    https://medlineplus.gov/.../autosomal-dominant-hyper-ige-syndrome - Genetics
  8. SCNN1B gene 
    ... on PubMed Shimkets RA, Warnock DG, Bositis CM, Nelson-Williams C, Hansson JH, Schambelan M, Gill JR Jr, Ulick S, Milora RV, Findling JW, et al. Liddle's syndrome: heritable human hypertension caused by mutations in the ...
    https://medlineplus.gov/genetics/gene/scnn1b - Genetics
  9. Floating-Harbor syndrome 
    ... 61. doi: 10.1007/BF02079072. Citation on PubMed Nelson RA, McNamara M, Ellis W, Stein-Wexler R, Moghaddam B, Zwerdling T. Floating-Harbor syndrome and intramedullary spinal cord ganglioglioma: case report and ...
    https://medlineplus.gov/genetics/condition/floating-harbor-syndrome - Genetics
  10. Liddle syndrome 
    ... Lu Y, Wilson TA, Gautschi I, Shimkets R, Nelson-Williams C, Rossier BC, Lifton RP. A de novo missense mutation of the beta subunit of the epithelial sodium channel causes hypertension and Liddle syndrome, identifying a proline-rich segment critical for regulation ...
    https://medlineplus.gov/genetics/condition/liddle-syndrome - Genetics
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