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Results 1 - 10 of 550 for N syndrome
  1. NSD1 gene 
    ... PubMed Central Tatton-Brown K, Cole TRP, Rahman N. Sotos Syndrome. 2004 Dec 17 [updated 2022 Dec 1]. In: ... 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. ...
    https://medlineplus.gov/genetics/gene/nsd1 - Genetics
  2. STAT3 gene 
    ... Grimbacher B. STAT3 mutations in the hyper-IgE syndrome. N Engl J Med. 2007 Oct 18;357(16): ... Loomis CA. STAT3 signaling and the hyper-IgE syndrome. N Engl J Med. 2007 Oct 18;357(16): ...
    https://medlineplus.gov/genetics/gene/stat3 - Genetics
  3. BLM gene 
    ... on PubMed Central Langer K, Cunniff CM, Kucine N. Bloom Syndrome. 2006 Mar 22 [updated 2023 Oct 12]. In: ...
    https://medlineplus.gov/genetics/gene/blm - Genetics
  4. HNRNPK gene 
    ... Epub 2018 Nov 17. Citation on PubMed Okamoto N. Okamoto syndrome has features overlapping with Au-Kline syndrome and ...
    https://medlineplus.gov/genetics/gene/hnrnpk - Genetics
  5. DICER1 gene 
    ... R, Stiller C, Stratton MR, Douglas J, Rahman N. DICER1 syndrome: clarifying the diagnosis, clinical features and management implications ...
    https://medlineplus.gov/genetics/gene/dicer1 - Genetics
  6. CYLD gene 
    ... Free article on PubMed Central Dubois A, Rajan N. CYLD Cutaneous Syndrome. 2020 Apr 16. In: Adam MP, Feldman J, ... PubMed Dubois A, Wilson V, Bourn D, Rajan N. CYLD GeneticTesting for Brooke-Spiegler Syndrome, Familial Cylindromatosis and Multiple Familial Trichoepitheliomas. PLoS Curr. ...
    https://medlineplus.gov/genetics/gene/cyld - Genetics
  7. PANK2 gene 
    ... Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome. N Engl J Med. 2003 Jan 2;348(1):33-40. doi: 10.1056/NEJMoa020817. Citation on PubMed Hayflick SJ. Pantothenate kinase-associated neurodegeneration (formerly Hallervorden-Spatz syndrome). J Neurol Sci. 2003 Mar 15;207(1- ...
    https://medlineplus.gov/genetics/gene/pank2 - Genetics
  8. HPS1 gene 
    ... with a form of oculocutaneous albinism (Hermansky-Pudlak syndrome). N Engl J Med. 1998 Apr 30;338(18): ... PubMed Ito S, Suzuki T, Inagaki K, Suzuki N, Takamori K, Yamada ... of Hermansky-Pudlak syndrome type 1 (HPS1) among Japanese albinism patients and ...
    https://medlineplus.gov/genetics/gene/hps1 - Genetics
  9. CDKN1B gene 
    ... Oct 27. Citation on PubMed Molatore S, Pellegata NS. The MENX syndrome and p27: relationships with multiple endocrine neoplasia. Prog ... 6123(10)82013-8. Citation on PubMed Pellegata NS, ... a multiple endocrine neoplasia syndrome in rats and humans. Proc Natl Acad Sci ...
    https://medlineplus.gov/genetics/gene/cdkn1b - Genetics
  10. ARMC5 gene 
    ... mutations in macronodular adrenal hyperplasia with Cushing's syndrome. N Engl J Med. 2013 Nov 28;369(22): ... Molecular and clinical evidence for an ARMC5 tumor syndrome: concurrent ... MB, Szarek E, Trivellin G, Sinaii N, Berthon A, Libe R, Assie G, Espiard S, ...
    https://medlineplus.gov/genetics/gene/armc5 - Genetics
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