PTCH1 duplication in a family with microcephaly and mild developmental delay

av Derwińska, Katarzyna, Smyk, Marta, Cooper, Mitchell Lance, Bader, Patricia, Cheung, Sau Wai, Stankiewicz, Paweł
Publicerad 2009

Multiple samples aCGH analysis for rare CNVs detection

av Sykulski, Maciej, Gambin, Tomasz, Bartnik, Magdalena, Derwińska, Katarzyna, Wiśniowiecka-Kowalnik, Barbara, Stankiewicz, Paweł, Gambin, Anna
Publicerad 2013

Application of custom-designed oligonucleotide array CGH in 145 patients with autistic spectrum disorders

av Wiśniowiecka-Kowalnik, Barbara, Kastory-Bronowska, Monika, Bartnik, Magdalena, Derwińska, Katarzyna, Dymczak-Domini, Wanda, Szumbarska, Dorota, Ziemka, Ewa, Szczałuba, Krzysztof, Sykulski, Maciej, Gambin, Tomasz, Gambin, Anna, Shaw, Chad A, Mazurczak, Tadeusz, Obersztyn, Ewa, Bocian, Ewa, Stankiewicz, Paweł
Publicerad 2013

Application of array comparative genomic hybridization in 256 patients with developmental delay or intellectual disability

av Bartnik, Magdalena, Nowakowska, Beata, Derwińska, Katarzyna, Wiśniowiecka-Kowalnik, Barbara, Kędzior, Marta, Bernaciak, Joanna, Ziemkiewicz, Kamila, Gambin, Tomasz, Sykulski, Maciej, Bezniakow, Natalia, Korniszewski, Lech, Kutkowska-Kaźmierczak, Anna, Klapecki, Jakub, Szczałuba, Krzysztof, Shaw, Chad A., Mazurczak, Tadeusz, Gambin, Anna, Obersztyn, Ewa, Bocian, Ewa, Stankiewicz, Paweł
Publicerad 2013

Detection of Clinically Relevant Exonic Copy-Number Changes by Array CGH

av Boone, Philip M., Bacino, Carlos A., Shaw, Chad A., Eng, Patricia A., Hixson, Patricia M., Pursley, Amber N., Kang, Sung-Hae L., Yang, Yaping, Wiszniewska, Joanna, Nowakowska, Beata A., Gaudio, Daniela del, Xia, Zhilian, Simpson-Patel, Gayle, Immken, LaDonna L., Gibson, James B., Tsai, Anne C.-H., Bowers, Jennifer A., Reimschisel, Tyler E., Schaaf, Christian P., Potocki, Lorraine, Scaglia, Fernando, Gambin, Tomasz, Sykulski, Maciej, Bartnik, Magdalena, Derwinska, Katarzyna, Wisniowiecka-Kowalnik, Barbara, Lalani, Seema R., Probst, Frank J., Bi, Weimin, Beaudet, Arthur L., Patel, Ankita, Lupski, James R., Cheung, Sau Wai, Stankiewicz, Pawel
Publicerad 2010