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Results 1 - 10 of 34 for Kleefstra syndrome 2
  1. Kleefstra syndrome 
    ... syndrome. Am J Hum Genet. 2006 Aug;79(2):370-7. doi: 10.1086/505693. Epub 2006 Jun 13. Citation on PubMed or Free article on PubMed Central Kleefstra T, de Leeuw N. Kleefstra Syndrome. 2010 Oct 5 [updated 2023 Jan 26]. In: ...
    https://medlineplus.gov/genetics/condition/kleefstra-syndrome - Genetics
  2. EHMT1 gene 
    ... transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome. Am J Hum Genet. 2006 Aug;79(2):370-7. doi: 10.1086/505693. Epub 2006 Jun 13. Citation on PubMed or Free article on PubMed Central Kleefstra T, Smidt M, Banning MJ, Oudakker AR, Van ...
    https://medlineplus.gov/genetics/gene/ehmt1 - Genetics
  3. PQBP1 gene 
    ... 80. doi: 10.1016/s0361-9230(01)00579-2. Citation on PubMed Stevenson RE, Bennett CW, Abidi F, Kleefstra T, Porteous M, Simensen RJ, Lubs HA, Hamel BC, Schwartz CE. Renpenning syndrome comes into focus. Am J Med Genet A. ...
    https://medlineplus.gov/genetics/gene/pqbp1 - Genetics
  4. ANKRD11 gene 
    ... mutations in humans and mice related to KBG syndrome. Hum Genet. 2015 ... Bokhoven H, Kleefstra T. Identification of ANKRD11 and ZNF778 as candidate ...
    https://medlineplus.gov/genetics/gene/ankrd11 - Genetics
  5. Snijders Blok-Campeau syndrome 
    ... Faivre L, Thevenon J, Assoum M, Shriberg L, Kleefstra T, Brunner HG, Wade PA, ... doi: 10.1038/s41467-019-08800-2. Nat Commun. 2019 May 2;10(1):2079. ...
    https://medlineplus.gov/.../condition/snijders-blok-campeau-syndrome - Genetics
  6. CHD3 gene 
    ... Faivre L, Thevenon J, Assoum M, Shriberg L, Kleefstra T, Brunner HG, Wade PA, ... doi: 10.1038/s41467-019-08800-2. Nat Commun. 2019 May 2;10(1):2079. ...
    https://medlineplus.gov/genetics/gene/chd3 - Genetics
  7. ACTG1 gene 
    ... Fry AE, Fryns JP, Gripp KW, Kempers M, Kleefstra T, Mancini GM, Nowaczyk MJ, ... 2012 Feb 26;44(4):440-4, S1-2. doi: 10.1038/ng.1091. Citation on PubMed ...
    https://medlineplus.gov/genetics/gene/actg1 - Genetics
  8. Baraitser-Winter syndrome 
    ... Fry AE, Fryns JP, Gripp KW, Kempers M, Kleefstra T, Mancini GM, Nowaczyk MJ, ... 2012 Feb 26;44(4):440-4, S1-2. doi: 10.1038/ng.1091. Citation on PubMed ...
    https://medlineplus.gov/genetics/condition/baraitser-winter-syndrome - Genetics
  9. Chromosome 9 
    ... A, Brunner HG, Tolmie J, Kleefstra T. Familial Kleefstra syndrome due to ... Clin Pract Urol. 2005 Oct;2(10):502-10. doi: 10.1038/ncpuro0318. Citation ...
    https://medlineplus.gov/genetics/chromosome/9 - Genetics
  10. ACTB gene 
    ... Fry AE, Fryns JP, Gripp KW, Kempers M, Kleefstra T, Mancini GM, Nowaczyk MJ, ... 2012 Feb 26;44(4):440-4, S1-2. doi: 10.1038/ng.1091. Citation on PubMed ...
    https://medlineplus.gov/genetics/gene/actb - Genetics
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