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Results 1 - 10 of 34 for Kleefstra syndrome 1
  1. Kleefstra syndrome 
    ... syndrome Chromosome 9q deletion syndrome Genetic Testing Registry: Kleefstra syndrome 1 Kleefstra syndrome National Organization for Rare Disorders (NORD) ...
    https://medlineplus.gov/genetics/condition/kleefstra-syndrome - Genetics
  2. EHMT1 gene 
    ... mutations that disable its function.Most people with Kleefstra syndrome are missing a sequence of about 1 million DNA building blocks (base pairs) on one ...
    https://medlineplus.gov/genetics/gene/ehmt1 - Genetics
  3. Chromosome 9 
    ... A, Brunner HG, Tolmie J, Kleefstra T. Familial Kleefstra syndrome due to maternal somatic mosaicism for interstitial 9q34.3 microdeletions. Clin Genet. 2011 Jul;80(1):31-8. doi: 10.1111/j.1399-0004. ...
    https://medlineplus.gov/genetics/chromosome/9 - Genetics
  4. Renpenning syndrome 
    ... 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. 2005 May 1;134(4):415-21. doi: 10.1002/ajmg. ...
    https://medlineplus.gov/genetics/condition/renpenning-syndrome - Genetics
  5. PQBP1 gene 
    ... 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. 2005 May 1;134(4):415-21. doi: 10.1002/ajmg. ...
    https://medlineplus.gov/genetics/gene/pqbp1 - Genetics
  6. CHD3 gene 
    ... Faivre L, Thevenon J, Assoum M, Shriberg L, Kleefstra T, Brunner HG, Wade PA, Fisher SE, Campeau PM. CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language. Nat Commun. 2018 Nov 5;9(1):4619. doi: 10.1038/s41467-018-06014-6. ...
    https://medlineplus.gov/genetics/gene/chd3 - Genetics
  7. Snijders Blok-Campeau syndrome 
    ... Faivre L, Thevenon J, Assoum M, Shriberg L, Kleefstra T, Brunner HG, Wade PA, Fisher SE, Campeau PM. CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language. Nat Commun. 2018 Nov 5;9(1):4619. doi: 10.1038/s41467-018-06014-6. ...
    https://medlineplus.gov/.../condition/snijders-blok-campeau-syndrome - Genetics
  8. PPP2R5D-related intellectual disability 
    ... for Rare Disorders (NORD) ClinicalTrials.gov HOUGE-JANSSENS SYNDROME 1; HJS1 PubMed Houge G, Haesen D, Vissers LE, Mehta S, Parker MJ, Wright M, Vogt J, McKee S, Tolmie JL, Cordeiro N, Kleefstra T, Willemsen MH, Reijnders MR, Berland S, Hayman ...
    https://medlineplus.gov/.../ppp2r5d-related-intellectual-disability - Genetics
  9. Potocki-Shaffer syndrome 
    ... Ha K, Kjaergaard S, Levin AV, Romeike BF, Kleefstra T, Bartsch O, Elsea SH, Jabs ... Am J Hum Genet. 2012 Jul 13;91(1):56-72. doi: 10.1016/j.ajhg.2012. ...
    https://medlineplus.gov/genetics/condition/potocki-shaffer-syndrome - Genetics
  10. Chromosome 11 
    ... Ha K, Kjaergaard S, Levin AV, Romeike BF, Kleefstra T, Bartsch O, Elsea SH, Jabs ... Am J Hum Genet. 2012 Jul 13;91(1):56-72. doi: 10.1016/j.ajhg.2012. ...
    https://medlineplus.gov/genetics/chromosome/11 - Genetics
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