Krawczyński MR - Search Results

1

Apparent X-linked primary ciliary dyskinesia associated with retinitis pigmentosa and a hearing loss.

Krawczyński MR, Dmeńska H, Witt M. Krawczyński MR, et al. J Appl Genet. 2004;45(1):107-10. J Appl Genet. 2004. PMID: 14960774

2

[Genetic heterogeneity of retinitis pigmentosa].

Krawczyński MR, Pecold K. Krawczyński MR, et al. Klin Oczna. 1994 Jan;96(1):24-9. Klin Oczna. 1994. PMID: 8078270 Review. Polish.

3

A new case of DOOR syndrome.

Wiśniewska M, Siwińska Z, Felczak M, Wielkoszyński T, Krawczyński M, Latos-Bieleńska A. Wiśniewska M, et al. J Appl Genet. 2008;49(1):101-3. doi: 10.1007/BF03195254. J Appl Genet. 2008. PMID: 18263975

4

A novel GJA1 missense mutation in a Polish child with oculodentodigital dysplasia.

Jamsheer A, Wisniewska M, Szpak A, Bugaj G, Krawczynski MR, Budny B, Wawrocka A, Latos-Bieleńska A. Jamsheer A, et al. Among authors: krawczynski mr. J Appl Genet. 2009;50(3):297-9. doi: 10.1007/BF03195687. J Appl Genet. 2009. PMID: 19638688

5

Severe manifestation of Leber's hereditary optic neuropathy due to 11778G>A mtDNA mutation in a female with hypoestrogenism due to Perrault syndrome.

Badura-Stronka M, Wawrocka A, Zawieja K, Silska S, Krawczyński MR. Badura-Stronka M, et al. Among authors: krawczynski mr. Mitochondrion. 2013 Nov;13(6):831-4. doi: 10.1016/j.mito.2013.05.011. Epub 2013 Jun 6. Mitochondrion. 2013. PMID: 23748049

6

Co-occurrence of Jalili syndrome and muscular overgrowth.

Wawrocka A, Walczak-Sztulpa J, Badura-Stronka M, Owecki M, Kopczynski P, Mrukwa-Kominek E, Skorczyk-Werner A, Gasperowicz P, Ploski R, Krawczynski MR. Wawrocka A, et al. Among authors: krawczynski mr. Am J Med Genet A. 2017 Aug;173(8):2280-2283. doi: 10.1002/ajmg.a.38318. Epub 2017 Jun 6. Am J Med Genet A. 2017. PMID: 28586144

7

Four novel RS1 gene mutations in Polish patients with X-linked juvenile retinoschisis.

Skorczyk A, Krawczyński MR. Skorczyk A, et al. Among authors: krawczynski mr. Mol Vis. 2012;18:3004-12. Epub 2012 Dec 13. Mol Vis. 2012. PMID: 23288992 Free PMC article.

8

The genetics of aniridia - simple things become complicated.

Wawrocka A, Krawczynski MR. Wawrocka A, et al. Among authors: krawczynski mr. J Appl Genet. 2018 May;59(2):151-159. doi: 10.1007/s13353-017-0426-1. Epub 2018 Feb 19. J Appl Genet. 2018. PMID: 29460221 Free PMC article. Review.

9

Fundus albipunctatus: review of the literature and report of a novel RDH5 gene mutation affecting the invariant tyrosine (p.Tyr175Phe).

Skorczyk-Werner A, Pawłowski P, Michalczuk M, Warowicka A, Wawrocka A, Wicher K, Bakunowicz-Łazarczyk A, Krawczyński MR. Skorczyk-Werner A, et al. Among authors: krawczynski mr. J Appl Genet. 2015 Aug;56(3):317-27. doi: 10.1007/s13353-015-0281-x. Epub 2015 Mar 28. J Appl Genet. 2015. PMID: 25820994 Free PMC article. Review.

10

11p13 deletions can be more frequent than the PAX6 gene point mutations in Polish patients with aniridia.

Wawrocka A, Sikora A, Kuszel L, Krawczynski MR. Wawrocka A, et al. Among authors: krawczynski mr. J Appl Genet. 2013 Aug;54(3):345-51. doi: 10.1007/s13353-013-0154-0. Epub 2013 Jun 13. J Appl Genet. 2013. PMID: 23761016 Free PMC article.

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