PTCH1 duplication in a family with microcephaly and mild developmental delay

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

Multiple samples aCGH analysis for rare CNVs detection

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

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

ανά 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
Έκδοση 2013

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

ανά 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
Έκδοση 2013

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

ανά 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
Έκδοση 2010