Publikacje

Czasopismo: European Journal of Human Genetics

2012

• D. Abdel-Hadi, N. Ahmad, M. Al-Haggar, Janusz Bujnicki, S. Hamed, Łukasz Kozłowski , A. Madej-Pilarczyk, Monika Puzianowska-Kuźnicka, A. Shams, S. Yahia, A novel homozygous p.Arg527Leu LMNA mutation in two unrelated Egyptian families causes overlapping mandibuloacral dysplasia and progeria syndrome, European Journal of Human Genetics, 2012. Zobacz w PBN
• Tomasz Gambin, Magdalena Bartnik-Głaska, Maciej Sykulski, Katarzyna Derwińska, Chad Shaw, Anna Gambin , Ewa Obersztyn, Monika Kastory-Bronowska, Paweł Stankiewicz, Tadeusz Mazurczak, Ewa Bocian, Dorota Szumbarska, Ewa Ziemka, Wanda Dymczak-Domini, Barbara Wiśniowiecka-Kowalnik, Krzysztof Szczałuba, Application of custom-designed oligonucleotide array CGH in 145 patients with autistic spectrum disorders, European Journal of Human Genetics, 2012. Zobacz w PBN