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A girl with duplication 9q34 syndrome.
Gawlik-Kuklinska K, Iliszko M, Wozniak A, Debiec-Rychter M, Kardas I, Wierzba J, Limon J. Gawlik-Kuklinska K, et al. Among authors: limon j. Am J Med Genet A. 2007 Sep 1;143A(17):2019-23. doi: 10.1002/ajmg.a.31847. Am J Med Genet A. 2007. PMID: 17663474
Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction.
Braunholz D, Hullings M, Gil-Rodríguez MC, Fincher CT, Mallozzi MB, Loy E, Albrecht M, Kaur M, Limon J, Rampuria A, Clark D, Kline A, Dalski A, Eckhold J, Tzschach A, Hennekam R, Gillessen-Kaesbach G, Wierzba J, Krantz ID, Deardorff MA, Kaiser FJ. Braunholz D, et al. Among authors: limon j. Eur J Hum Genet. 2012 Mar;20(3):271-6. doi: 10.1038/ejhg.2011.175. Epub 2011 Sep 21. Eur J Hum Genet. 2012. PMID: 21934712 Free PMC article.
Periventricular heterotopia in a boy with interstitial deletion of chromosome 4p.
Gawlik-Kuklinska K, Wierzba J, Wozniak A, Iliszko M, Debiec-Rychter M, Dubaniewicz-Wybieralska M, Limon J. Gawlik-Kuklinska K, et al. Among authors: limon j. Eur J Med Genet. 2008 Mar-Apr;51(2):165-71. doi: 10.1016/j.ejmg.2007.12.001. Epub 2007 Dec 23. Eur J Med Genet. 2008. PMID: 18243084
Partial trisomy of distal 5q and partial monosomy of Xp as a result of mating between two translocation carriers: a female with a balanced translocation t(X;5)(p11;q31) and a male with a der(13;14)(q10;q10)--a case report and a family study.
Wysocka B, Brozek I, Wierzba J, Kardaś I, Woźniak A, Kowalczyk J, Balcerska A, Limon J. Wysocka B, et al. Among authors: limon j. Ann Genet. 2002 Jul-Sep;45(3):143-6. doi: 10.1016/s0003-3995(02)01124-3. Ann Genet. 2002. PMID: 12381446
296 results