Следене
Katarzyna Derwińska
Katarzyna Derwińska
Moratex
Потвърден имейл адрес: moratex.eu
Заглавие
Позовавания
Позовавания
Година
Detection of clinically relevant exonic copy‐number changes by array CGH
PM Boone, CA Bacino, CA Shaw, PA Eng, PM Hixson, AN Pursley, ...
Human mutation 31 (12), 1326-1342, 2010
2752010
Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture
LELM Vissers, SS Bhatt, IM Janssen, Z Xia, SR Lalani, R Pfundt, ...
Human molecular genetics 18 (19), 3579-3593, 2009
1732009
Application of array comparative genomic hybridization in 256 patients with developmental delay or intellectual disability
M Bartnik, B Nowakowska, K Derwińska, B Wiśniowiecka-Kowalnik, ...
Journal of applied genetics 55, 125-144, 2014
682014
Application of array comparative genomic hybridization in 102 patients with epilepsy and additional neurodevelopmental disorders
M Bartnik, E Szczepanik, K Derwińska, B Wiśniowiecka‐Kowalnik, ...
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 159 …, 2012
632012
Application of Prussian blue based composite film with functionalized organic polymer to construction of enzymatic glucose biosensor
K Derwinska, K Miecznikowski, R Koncki, PJ Kulesza, S Glab, MA Malik
Electroanalysis: An International Journal Devoted to Fundamental and …, 2003
632003
Early-onset seizures due to mosaic exonic deletions of CDKL5 in a male and two females
M Bartnik, K Derwińska, M Gos, E Obersztyn, KE Kołodziejska, A Erez, ...
Genetics in Medicine 13 (5), 447-452, 2011
562011
Application of custom-designed oligonucleotide array CGH in 145 patients with autistic spectrum disorders
B Wiśniowiecka-Kowalnik, M Kastory-Bronowska, M Bartnik, K Derwińska, ...
European Journal of Human Genetics 21 (6), 620-625, 2013
492013
PTCH1 duplication in a family with microcephaly and mild developmental delay
K Derwińska, M Smyk, ML Cooper, P Bader, SW Cheung, P Stankiewicz
European Journal of Human Genetics 17 (2), 267-271, 2009
422009
Clinical and molecular‐cytogenetic evaluation of a family with partial Jacobsen syndrome without thrombocytopenia caused by an∼ 5 Mb deletion del (11)(q24. 3)
J Bernaciak, K Szczałuba, K Derwińska, B Wiśniowiecka‐Kowalnik, ...
American Journal of Medical Genetics Part A 146 (19), 2449-2454, 2008
422008
Assessment of the role of copy-number variants in 150 patients with congenital heart defects.
K Derwińska, M Bartnik, B Wiśniowiecka-Kowalnik, M Jagła, A Rudziński, ...
Medycyna wieku rozwojowego 16 (3), 175-182, 2012
382012
A comparative analysis of polyurethane hydrogel for immobilization of IgG on chips
K Derwinska, LA Gheber, C Preininger
Analytica chimica acta 592 (2), 132-138, 2007
372007
Adsorption versus covalent, statistically oriented and covalent, site-specific IgG immobilization on poly (vinyl alcohol)-based surfaces
K Derwinska, U Sauer, C Preininger
Talanta 77 (2), 652-658, 2008
212008
Autistic features with speech delay in a girl with an ∼1.5‐Mb deletion in 6q16.1, including GPR63 and FUT9
K Derwińska, J Bernaciak, B Wiśniowiecka‐Kowalnik, E Obersztyn, ...
Clinical genetics 75 (2), 199-202, 2009
192009
Clinical improvement of the aggressive neurobehavioral phenotype in a patient with a deletion of PITX3 and the absence of L‐DOPA in the cerebrospinal fluid
K Derwińska, H Mierzewska, A Goszczańska, E Szczepanik, Z Xia, ...
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 159 …, 2012
162012
Reproducibility of hydrogel slides in on-chip immunoassays with respect to scanning mode, spot circularity, and data filtering
K Derwinska, U Sauer, C Preininger
Analytical biochemistry 370 (1), 38-46, 2007
122007
Effect of surface parameters on the performance of IgG-arrayed hydrogel chips: A comprehensive study
K Derwinska, LA Gheber, U Sauer, L Schorn, C Preininger
Langmuir 23 (21), 10551-10558, 2007
112007
The use of biodegradable polymers in design of cellular scaffolds
J Orłowska, U Kurczewska, K Derwińska, W Orłowski, ...
Postępy Higieny i Medycyny Doświadczalnej 69, 2015
82015
Multiple samples aCGH analysis for rare CNVs detection
M Sykulski, T Gambin, M Bartnik, K Derwińska, B Wiśniowiecka-Kowalnik, ...
Journal of clinical bioinformatics 3, 1-9, 2013
72013
Balanced chromosomal rearrangements resulting in intellectual disability. An analysis of 22 cases with application of CGH and FISH methods
K Borg, E Bocian, J Bernaciak, B Nowakowska, K Derwińska, E Obersztyn, ...
Medycyna Wieku Rozwojowego 13 (2), 81-93, 2009
42009
114 Efficacy of 2-deoxy-D-glucose analog in glycolysis blocking in tumor cells
T Strózik, M Ozga, A Linke-Szewczyk, W Priebe, W Orlowski, K Derwinska
European Journal of Cancer 3 (51), S5, 2015
32015
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Статии 1–20