Bal J - Search Results

1

Clinical characteristics of carriers of a GAG deletion in the DYT1 gene amongst Polish patients with primary dystonia.

Szczaluba K, Jurek M, Milewski M, Friedman A, Kadziolka B, Szolna A, Bal J, Mazurczak T. Szczaluba K, et al. Among authors: bal j. Eur J Neurol. 2007 Jun;14(6):659-62. doi: 10.1111/j.1468-1331.2007.01811.x. Eur J Neurol. 2007. PMID: 17539945

2

A family with paroxysmal nonkinesigenic dyskinesia: genetic and treatment issues.

Szczałuba K, Jurek M, Szczepanik E, Friedman A, Milewski M, Bal J, Mazurczak T. Szczałuba K, et al. Among authors: bal j. Pediatr Neurol. 2009 Aug;41(2):135-8. doi: 10.1016/j.pediatrneurol.2009.02.013. Pediatr Neurol. 2009. PMID: 19589464

3

Genotype-phenotype associations for ARX gene duplication in X-linked mental retardation.

Szczaluba K, Nawara M, Poirier K, Pilch J, Gajdulewicz M, Spodar K, Chelly J, Bal J, Mazurczak T. Szczaluba K, et al. Among authors: bal j. Neurology. 2006 Dec 12;67(11):2073-5. doi: 10.1212/01.wnl.0000247833.29314.5b. Epub 2006 Nov 2. Neurology. 2006. PMID: 17082467

4

The ARX mutations: a frequent cause of X-linked mental retardation.

Nawara M, Szczaluba K, Poirier K, Chrzanowska K, Pilch J, Bal J, Chelly J, Mazurczak T. Nawara M, et al. Among authors: bal j. Am J Med Genet A. 2006 Apr 1;140(7):727-32. doi: 10.1002/ajmg.a.31151. Am J Med Genet A. 2006. PMID: 16523516

5

Intrafamilial variability of the primary dystonia DYT6 phenotype caused by p.Cys5Trp mutation in THAP1 gene.

Jurek M, Hoffman-Zacharska D, Koziorowski D, Mądry J, Friedman A, Bal J. Jurek M, et al. Among authors: bal j. Neurol Neurochir Pol. 2014;48(4):254-7. doi: 10.1016/j.pjnns.2014.07.003. Epub 2014 Jul 29. Neurol Neurochir Pol. 2014. PMID: 25168324

6

Frequency of Fra X syndrome among institutionalized mentally retarded males in Poland.

Mazurczak T, Bocian E, Milewski M, Obersztyn E, Stańczak H, Bal J, Szamotulska K, Karwacki MW. Mazurczak T, et al. Among authors: bal j. Am J Med Genet. 1996 Jul 12;64(1):184-6. doi: 10.1002/(SICI)1096-8628(19960712)64:1<184::AID-AJMG32>3.0.CO;2-H. Am J Med Genet. 1996. PMID: 8826472

7

Analysis of unstable DNA sequence in FMR1 gene in Polish families with fragile X syndrome.

Milewski M, Zygulska M, Bal J, Deelen WH, Obersztyn E, Bocian E, Halley DJ, Horst J, Mazurczak T. Milewski M, et al. Among authors: bal j. Acta Biochim Pol. 1996;43(2):383-8. Acta Biochim Pol. 1996. PMID: 8862184

8

The frequency of mutations in exon 11 of the CF gene in Polish cystic fibrosis patients.

Bal J, Mazurczak T, Reiss J. Bal J, et al. Acta Biochim Pol. 1992;39(3):245-9. Acta Biochim Pol. 1992. PMID: 1485486

9

[Molecular pathogenesis of fragile X syndrome].

Sielska D, Milewski M, Bal J. Sielska D, et al. Among authors: bal j. Med Wieku Rozwoj. 2002 Oct-Dec;6(4):295-308. Med Wieku Rozwoj. 2002. PMID: 12810982 Review. Polish.

10

Molecular analysis of defects in the CFTR gene and AZF locus of the Y chromosome in male infertility.

Sobczyńska-Tomaszewska A, Bak D, Wolski JK, Bablok L, Nawara M, Mazurczak T, Bal J. Sobczyńska-Tomaszewska A, et al. Among authors: bal j. J Reprod Med. 2006 Feb;51(2):120-7. J Reprod Med. 2006. PMID: 16572913

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