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Page 1
Spectrum of JAG1 gene mutations in Polish patients with Alagille syndrome.
Jurkiewicz D, Gliwicz D, Ciara E, Gerfen J, Pelc M, Piekutowska-Abramczuk D, Kugaudo M, Chrzanowska K, Spinner NB, Krajewska-Walasek M. Jurkiewicz D, et al. J Appl Genet. 2014 Aug;55(3):329-36. doi: 10.1007/s13353-014-0212-2. Epub 2014 Apr 20. J Appl Genet. 2014. PMID: 24748328 Free PMC article.
Four novel RSK2 mutations in females with Coffin-Lowry syndrome.
Jurkiewicz D, Jezela-Stanek A, Ciara E, Piekutowska-Abramczuk D, Kugaudo M, Gajdulewicz M, Chrzanowska K, Popowska E, Krajewska-Walasek M. Jurkiewicz D, et al. Eur J Med Genet. 2010 Sep-Oct;53(5):268-73. doi: 10.1016/j.ejmg.2010.07.006. Epub 2010 Jul 15. Eur J Med Genet. 2010. PMID: 20637903
Additional data on the clinical phenotype of Helsmoortel-Van der Aa syndrome associated with a novel truncating mutation in ADNP gene.
Krajewska-Walasek M, Jurkiewicz D, Piekutowska-Abramczuk D, Kucharczyk M, Chrzanowska KH, Jezela-Stanek A, Ciara E. Krajewska-Walasek M, et al. Among authors: jurkiewicz d. Am J Med Genet A. 2016 Jun;170(6):1647-50. doi: 10.1002/ajmg.a.37641. Epub 2016 Mar 31. Am J Med Genet A. 2016. PMID: 27031564 No abstract available.
Anthropometric characteristics of X-linked hypophosphatemia.
Pronicka E, Popowska E, Rowińska E, Arasimowicz E, Syczewska M, Jurkiewicz D, Lebiedowski M. Pronicka E, et al. Among authors: jurkiewicz d. Am J Med Genet A. 2004 Apr 15;126A(2):141-9. doi: 10.1002/ajmg.a.20572. Am J Med Genet A. 2004. PMID: 15057978
Malan syndrome (Sotos syndrome 2) in two patients with 19p13.2 deletion encompassing NFIX gene and novel NFIX sequence variant.
Jezela-Stanek A, Kucharczyk M, Falana K, Jurkiewicz D, Mlynek M, Wicher D, Rydzanicz M, Kugaudo M, Cieslikowska A, Ciara E, Ploski R, Krajewska-Walasek M. Jezela-Stanek A, et al. Among authors: jurkiewicz d. Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2016 Mar;160(1):161-7. doi: 10.5507/bp.2016.006. Epub 2016 Feb 29. Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2016. PMID: 26927468 Free article. Review.
216 results