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Results 1 - 10 of 1,510 for N syndrome
  1. Sotos syndrome 
    ... on PubMed Tatton-Brown K, Cole TRP, Rahman N. Sotos Syndrome. 2004 Dec 17 [updated 2022 Dec 1]. In: ... article on PubMed Central Tatton-Brown K, Rahman N. Clinical features of NSD1-positive Sotos syndrome. Clin Dysmorphol. 2004 Oct;13(4):199-204. ...
    https://medlineplus.gov/genetics/condition/sotos-syndrome - Genetics
  2. Kleefstra syndrome 
    ... article on PubMed Central Kleefstra T, de Leeuw N. Kleefstra Syndrome. 2010 Oct 5 [updated 2023 Jan 26]. In: ... Yntema HG, van Hagen JM, Nieuwint AW, Morrison N, Keijzers-Vloet ST, Hoischen A, ... syndrome due to maternal somatic mosaicism for interstitial 9q34. ...
    https://medlineplus.gov/genetics/condition/kleefstra-syndrome - Genetics
  3. 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
  4. Alström syndrome 
    ... gov ALSTROM SYNDROME; ALMS PubMed Girard D, Petrovsky N. Alstrom syndrome: insights into the pathogenesis of metabolic disorders. Nat ... CM, Hoeltzenbein M, Pozzan GB, Hopkinson I, Sicolo N, Naggert JK, Nishina PM. New Alstrom syndrome phenotypes based on the evaluation of 182 cases. ...
    https://medlineplus.gov/genetics/condition/alstrom-syndrome - Genetics
  5. Noonan syndrome 
    ... Male Turner syndrome Noonan's syndrome Noonan-Ehmke syndrome NS Pseudo-Ullrich-Turner syndrome Turner phenotype with normal karyotype Turner syndrome in ...
    https://medlineplus.gov/genetics/condition/noonan-syndrome - Genetics
  6. Rubella (World Health Organization)  
    Rubella/Start Here ... Rubella ... World Health Organization ... WHO fact sheet on rubella: includes key facts, definition, symptoms, congenital rubella syndrome, vaccination, ...
    https://www.who.int/en/news-room/fact-sheets/detail/rubella - External Health Links
  7. Autosomal dominant hyper-IgE syndrome 
    ... Grimbacher B. STAT3 mutations in the hyper-IgE syndrome. N Engl J Med. 2007 Oct 18;357(16): ... mutation in the original patient with Job's syndrome. N Engl J Med. 2007 Oct 18;357(16): ...
    https://medlineplus.gov/.../autosomal-dominant-hyper-ige-syndrome - Genetics
  8. Weaver syndrome 
    ... Cole T, Seal S; Childhood Overgrowth Consortium; Rahman N. Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype. Am ... 8. Citation on PubMed Tatton-Brown K, Rahman N. The NSD1 and EZH2 overgrowth ... PubMed or Free article on PubMed Central
    https://medlineplus.gov/genetics/condition/weaver-syndrome - Genetics
  9. 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
  10. Nakajo-Nishimura syndrome 
    ... PubMed or Free article on PubMed Central Kanazawa N. Nakajo-Nishimura syndrome: an autoinflammatory disorder showing pernio-like rashes and ... Central Kitano Y, Matsunaga E, Morimoto T, Okada N, Sano S. A syndrome with nodular erythema, elongated and thickened fingers, and ...
    https://medlineplus.gov/genetics/condition/nakajo-nishimura-syndrome - Genetics
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