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6 Publikationen

2018 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2919294
Human germline gene editing: Recommendations of ESHG and ESHRE
de Wert G, Pennings G, Clarke A, Eichenlaub-Ritter U, Van El CG, Forzano F, Goddijn M, Heindryckx B, Howard HC, Radojkovic D, Rial-Sebbag E, et al. (2018)
EUROPEAN JOURNAL OF HUMAN GENETICS 26(4): 445-449.
PUB | DOI | WoS | PubMed | Europe PMC
 
2018 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2919295
Responsible innovation in human germline gene editing: Background document to the recommendations of ESHG and ESHRE
De Wert G, Heindryckx B, Pennings G, Clarke A, Eichenlaub-Ritter U, Van El CG, Forzano F, Goddijn M, Howard HC, Radojkovic D, Rial-Sebbag E, et al. (2018)
EUROPEAN JOURNAL OF HUMAN GENETICS 26(4): 450-470.
PUB | DOI | WoS | PubMed | Europe PMC
 
2013 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2584421
Functional characterization of desmin mutant p.P419S
Brodehl A, Dieding M, Cakar H, Klauke B, Walhorn V, Gummert J, Anselmetti D, Milting H (2013)
European journal of human genetics : EJHG 21(6): 589-590.
PUB | DOI | WoS | PubMed | Europe PMC
 
2013 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2625696
Rapid degradation of an active formylglycine generating enzyme variant leads to a late infantile severe form of multiple sulfatase deficiency
Schlotawa L, Radhakrishnan K, Baumgartner M, Schmid R, Schmidt B, Dierks T, Gaertner J (2013)
European Journal Of Human Genetics 21(9): 1020-1023.
PUB | DOI | WoS | PubMed | Europe PMC
 
2011 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2003211
SUMF1 mutations affecting stability and activity of formylglycine generating enzyme predict clinical outcome in multiple sulfatase deficiency
Schlotawa L, Ennemann E, Radhakrishnan K, Schmidt B, Chakrapani A, Christen H-J, Moser H, Steinmann B, Dierks T, Gaertner J (2011)
European Journal of Human Genetics 19(3): 253-261.
PUB | DOI | WoS | PubMed | Europe PMC
 
2007 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 1593755
Diagnostic accuracy of methods for the detection of BRCA1 and BRCA2 mutations: a systematic review
Gerhardus A, Schleberger H, Schlegelberger B, Gadzicki D (2007)
EUROPEAN JOURNAL OF HUMAN GENETICS 15(6): 619-627.
PUB | DOI | WoS | PubMed | Europe PMC
 

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