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 | 276 | 2010 |
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 | 173 | 2009 |
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 | 69 | 2014 |
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 | 63 | 2012 |
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 | 63 | 2003 |
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 | 57 | 2011 |
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 | 49 | 2013 |
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 | 43 | 2008 |
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 | 42 | 2009 |
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 | 38 | 2012 |
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 | 37 | 2007 |
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 | 21 | 2008 |
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 | 19 | 2009 |
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 | 16 | 2012 |
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 | 12 | 2007 |
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 | 11 | 2007 |
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 | 8 | 2015 |
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 | 7 | 2013 |
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 | 4 | 2009 |
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 | 3 | 2015 |