Items where Author is "Della Marina, Adela"

Article

Khuller, Katharina and Yigit, Goekhan and Grijalva, Carolina Martinez and Altmueller, Janine and Thiele, Holger and Nurnberg, Peter and Elcioglu, Nursel H. and Yeter, Burcu and Hehr, Ute and Stein, Anja and Della Marina, Adela and Koeninger, Angela and Depienne, Christel and Kaiser, Frank J. and Wollnik, Bernd and Kuechler, Alma (2021) MFSD2A-associated primary microcephaly-Expanding the clinical and mutational spectrum of this ultra-rare disease. EUROPEAN JOURNAL OF MEDICAL GENETICS, 64 (10): 104310. ISSN 1769-7212, 1878-0849

Paul, Luisa and Rupprich, Katrin and Della Marina, Adela and Stein, Anja and Elgizouli, Magdeldin and Kaiser, Frank J. and Schweiger, Bernd and Koeninger, Angela and Iannaccone, Antonella and Hehr, Ute and Koelbel, Heike and Roos, Andreas and Schara-Schmidt, Ulrike and Kuechler, Alma (2020) Further evidence forPOMKas candidate gene for WWS with meningoencephalocele. ORPHANET JOURNAL OF RARE DISEASES, 15 (1): 242. ISSN 1750-1172