Archiwum Publications - Page 84 of 178 - Institute of Human Genetics Polish Academy of Sciences

MicroRNA-155 and microRNA-196b: promising biomarkers in hepatitis C virus infection?

Kałużna EM;

Rev Med Virol, 2014, 24 (3): 169-185.

Comparative high resolution melting: a novel method of simultaneous screening for small mutations and copy number variations.

Borun P, Kubaszewski L, Banasiewicz T, Walkowiak J, Skrzypczak-Zielinska M, Kaczmarek-Rys M, Plawski A;

Hum Genet, 2014, 133 (5): 535-545.

Familial adenomatous polyposis in three generations of a single family: a case study.

Murgic J, Kirac I, Soldic Z, Tomas D, Zovak M, Bolanca A, Plawski A, Banasiewicz Y, Kusic Z;

Case Rep Oncol, 2014, 7 (2): 349-356.

Zastosowanie FISH w hematoonkologii.

Jarmuż-Szymczak M, Czerwińska-Rybak J, Ratajczak B, Przybyłowicz-Chalecka A, Komarnicki M;

W: Analiza DNA – praktyka pod red. R. Słomskiego, Wyd. Uniw. Przyrodn. w Poznaniu, ISBN 978-83-7160-793-9, 2014: 127-145

Loss of function mutation in the palmitoyl-transferase HHAT leads to syndromic 46,XY disorder of sex development by impeding Hedgehog protein palmitoylation and signaling.

Callier P, Calvel P, Matevossian A, Makrythanasis P, Bernard P, Kurosaka H, Vannier A, Thauvin-Robinet C, Borel C, Mazaud-Guittot S, Rolland A, Desdoits-Lethimonier C, Guipponi M, Zimmermann C, Stévant I, Kuhne F, Conne B, Santoni F, Lambert S, Huet F, Mugneret F, Jaruzelska J, Faivre L, Wilhelm D, Jégou B, Trainor PA, Resh MD, Antonarakis SE, Nef S;

PLoS Genet, 2014, 10 (5): e1004340.