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발행년	- (예 : 2010-2015)

Next-generation sequencing reveals novel variants and large deletion in FANCA gene in Polish family with Fanconi anemia

Academic Journal

Repczynska, A.; Julga, K.; Bartoszewska-Kubiak, A.; Lazarczyk, E.; Haus, O.; Skalska-Sadowska, J.; Wachowiak, J.; Kacprzak, M.M.; Loska, D.; Czerska, K.; Drozniewska, M.

In: Orphanet Journal of Rare Diseases. (Orphanet Journal of Rare Diseases, December 2022, 17(1))

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Novel FANCA mutation in the first fully-diagnosed patient with Fanconi anemia in Polish population - Case report

Academic Journal

Repczynska, A.; Haus, O.; Pastorczak, A.; Babol-Pokora, K.; Mlynarski, W.; Skalska-Sadowska, J.; Drozniewska, M.

In: Molecular Cytogenetics. (Molecular Cytogenetics, 10 August 2020, 13(1))

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Second-trimester prenatal diagnosis of Nager syndrome with a deletion including SF3B4 detected by chromosomal microarray

Academic Journal

Drozniewska, M.; Togneri, F.; Reali, L.; Allen, S.; McMullan, D.; Kilby, M.D.; Quinlan-Jones, E.; Vogt, J.

In: Clinical Case Reports. (Clinical Case Reports, 1 March 2020, 8(3):508-511)

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PAX3 gene deletion detected by microarray analysis in a girl with hearing loss

Academic Journal

Drozniewska, M.; Haus, O.

In: Molecular Cytogenetics. (Molecular Cytogenetics, 29 April 2014, 7(1))

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Complex balanced chromosomal translocation t(2;5;13) (p21;p15;q22) in a woman with four reproductive failures

Academic Journal

Lazarczyk, E.; Drozniewska, M.; Pasinska, M.; Haus, O.; Stasiewicz-Jarocka, B.; Midro, A.T.

In: Molecular Cytogenetics. (Molecular Cytogenetics, 2014, 7(1))

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Duplication of the Wolf-Hirschhorn syndrome critical region causes neurodevelopmental delay

Academic Journal

Hannes, F.; Vermeesch, J.R.; Drozniewska, M.; Haus, O.

In: European Journal of Medical Genetics. (European Journal of Medical Genetics, May 2010/June 2010, 53(3):136-140)

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Laryngological problems in children with Down syndrome

Academic Journal

Fra̧ckiewicz, M.; Garstecka, A.; Chmielik, M.; Drozniewska, M.

In: New Medicine. (New Medicine, October 2007, 11(4):108-110)

Scopus Find it@PNU

Analysis of genetic causes of reproductive failures in couples with spontaneous abortions, and still birth or live children with congenital malformations

Academic Journal

Pasińska, M.; Haus, O.; Drozniewska, M.; Duszeńko, E.; Ludwikowski, G.; Piotrowicz, M.

In: Pediatria Polska. (Pediatria Polska, 2007, 82(4):292-299)

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Tetrasomy 15q syndrome-case report

Academic Journal

Drozniewska, M.; Janiszewska, T.; Haus, O.

CHROMOSOME RESEARCH; JUN 2009, 17 p82-p82, 1p. Supplement: 1

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