Anzahl der Einträge: 3.
Artikel
Khuller, Katharina,
Yigit, Gökhan,
Martínez Grijalva, Carolina,
Altmüller, Janine,
Thiele, Holger,
Nürnberg, Peter,
Elcioglu, Nursel H.,
Yeter, Burcu,
Hehr, Ute,
Stein, Anja,
Della Marina, Adela,
Köninger, Angela,
Depienne, Christel,
Kaiser, Frank J.,
Wollnik, Bernd und
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), S. 104310.
Volltext nicht vorhanden.
Paul, Luisa,
Rupprich, Katrin,
Della Marina, Adela,
Stein, Anja,
Elgizouli, Magdeldin,
Kaiser, Frank J.,
Schweiger, Bernd,
Köninger, Angela,
Iannaccone, Antonella,
Hehr, Ute,
Kölbel, Heike,
Roos, Andreas,
Schara-Schmidt, Ulrike und
Kuechler, Alma
(2020)
Further evidence for POMK as candidate gene for WWS with meningoencephalocele.
Orphanet Journal of Rare Diseases 15 (1).
Volltext nicht vorhanden.
Härtel, Christoph,
Hartz, Annika,
Pagel, Julia,
Rupp, Jan,
Stein, Anja,
Kribs, Angela,
Müller, Andreas,
Haase, Roland,
Gille, Christian,
Böttger, Ralf,
Kittel, Jochen,
Jensen, Reinhard,
Wieg, Christian,
Herting, Egbert und
Göpel, Wolfgang
(2016)
NOD2 Loss-of-Function Mutations and Risks of Necrotizing Enterocolitis or Focal Intestinal Perforation in Very Low-birth-weight Infants.
Inflammatory Bowel Diseases 22 (2), S. 249-256.
Volltext nicht vorhanden.
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