Chrzanowska K - Search Results

1

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. Among authors: chrzanowska k. 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

2

Phenotype variability in the Miller acrofacial dysostosis syndrome. Report of two further patients.

Chrzanowska KH, Fryns JP, Krajewska-Walasek M, Wisniewski L, Van den Berghe H. Chrzanowska KH, et al. Clin Genet. 1989 Feb;35(2):157-60. doi: 10.1111/j.1399-0004.1989.tb02922.x. Clin Genet. 1989. PMID: 2721025

3

Skeletal dysplasia syndrome with progeroid appearance, characteristic facial and limb anomalies, multiple synostoses, and distinct skeletal changes: a variant example of the Lenz-Majewski syndrome.

Chrzanowska KH, Fryns JP, Krajewska-Walasek M, Van den Berghe H, Wisniewski L. Chrzanowska KH, et al. Am J Med Genet. 1989 Apr;32(4):470-4. doi: 10.1002/ajmg.1320320407. Am J Med Genet. 1989. PMID: 2773987

4

The Dubowitz syndrome--one more case.

Chrzanowska KH, Krajewska-Walasek M. Chrzanowska KH, et al. Klin Padiatr. 1987 Sep-Oct;199(5):370-2. doi: 10.1055/s-2008-1026822. Klin Padiatr. 1987. PMID: 3316825 Review.

5

[The diagnosis of Cohen's syndrome].

Krajewska-Walasek M, Chrzanowska K, Rump Z. Krajewska-Walasek M, et al. Among authors: chrzanowska k. Wiad Lek. 1986 Sep 15;39(18):1270-7. Wiad Lek. 1986. PMID: 3564466 Polish. No abstract available.

6

Eleven Polish patients with microcephaly, immunodeficiency, and chromosomal instability: the Nijmegen breakage syndrome.

Chrzanowska KH, Kleijer WJ, Krajewska-Walasek M, Białecka M, Gutkowska A, Goryluk-Kozakiewicz B, Michałkiewicz J, Stachowski J, Gregorek H, Lysón-Wojciechowska G, et al. Chrzanowska KH, et al. Am J Med Genet. 1995 Jul 3;57(3):462-71. doi: 10.1002/ajmg.1320570321. Am J Med Genet. 1995. PMID: 7545870 Review.

7

A further report of Brachmann-de Lange syndrome in two sibs with normal parents.

Krajewska-Walasek M, Chrzanowska K, Tylki-Szymańska A, Białecka M. Krajewska-Walasek M, et al. Among authors: chrzanowska k. Clin Genet. 1995 Jun;47(6):324-7. doi: 10.1111/j.1399-0004.1995.tb03974.x. Clin Genet. 1995. PMID: 7554368 Review.

8

The cardio-facio-cutaneous (CFC) syndrome--two possible new cases and review of the literature.

Krajewska-Walasek M, Chrzanowska K, Jastrzbska M. Krajewska-Walasek M, et al. Among authors: chrzanowska k. Clin Dysmorphol. 1996 Jan;5(1):65-72. doi: 10.1097/00019605-199601000-00010. Clin Dysmorphol. 1996. PMID: 8867662

9

A new case of Beckwith-Wiedemann syndrome with an 11p15 duplication of paternal origin [46,XY,-21,+der(21), t(11;21)(p15.2;q22.3)pat].

Krajewska-Walasek M, Gutkowska A, Mospinek-Krasnopolska M, Chrzanowska K. Krajewska-Walasek M, et al. Among authors: chrzanowska k. Acta Genet Med Gemellol (Roma). 1996;45(1-2):245-50. doi: 10.1017/s0001566000001392. Acta Genet Med Gemellol (Roma). 1996. PMID: 8872040

10

Kabuki (Niikawa-Kuroki) syndrome associated with immunodeficiency.

Chrzanowska KH, Krajewska-Walasek M, Kuś J, Michałkiewicz J, Maziarka D, Wolski JK, Brecevic L, Madaliński K. Chrzanowska KH, et al. Clin Genet. 1998 Apr;53(4):308-12. doi: 10.1111/j.1399-0004.1998.tb02702.x. Clin Genet. 1998. PMID: 9650771

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