American Journal of Medical Genetics Part A

Home >> Publications >> Journal >> American Journal of Medical Genetics Part A
07.12.2020

Aplasia cutis congenita in a CDC42-related developmental phenotype

Authors Schnabel F, Kamphausen SB, Funke R, Kaulfuß S, Wollnik B, Zenker M Journal American Journal of Medical Genetics Part A Citation Am J Med Genet A. 2020 Dec 7. Abstract Cell division cycle 42 (CDC42) is a small Rho GTPase, which serves as a fundamental intracellular signal node regulating
Learn More
25.03.2020

Human RAD50 deficiency: Confirmation of a distinctive phenotype

Authors Ragamin A, Yigit G, Bousset K, Beleggia F, Verheijen FW, de Wit MCY, Strom TM, Dörk T, Wollnik B, Mancini GMS Journal American Journal of Medical Genetics Part A Citation Am J Med Genet A. 2020 Jun;182(6):1378-1386. Abstract DNA double-strand breaks (DSBs) are highly toxic DNA lesions that can
Learn More

Open Positions

EN DE
X
X