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D. Beltran Valero de Bernabe
D. Beltran Valero de Bernabe
University of Iowa
Biology
Fukutin
Cobblestone Lissencephaly
Walker–Warburg syndrome
Genetics
4
Papers
769
Citations
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POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome
2005
Journal of Medical Genetics
J. van Reeuwijk
M.H.M. Janssen
C. van der Elzen
D. Beltran Valero de Bernabe
Patrizia Sabatelli
Luciano Merlini
M. Boon
H. Scheffer
M Brockington
Francesco Muntoni
Martijn A. Huynen
Aad Verrips
Christopher A. Walsh
Peter G. Barth
Han G. Brunner
J.H.L.M. van Bokhoven
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Citations (367)
Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker–Warburg syndrome
2004
Journal of Medical Genetics
D. Beltran Valero de Bernabe
Thomas Voit
C Longman
Alice Steinbrecher
Volker Straub
Y Yuva
R. Herrmann
J. Sperner
C.G. Korenke
Charlotta Diesen
William B. Dobyns
H.G. Brunner
J.H.L.M. van Bokhoven
M Brockington
Francesco Muntoni
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Citations (237)
A homozygous nonsense mutation in the Fukutin gene causes a Walker-Warburg syndrome phenotype
2003
Journal of Medical Genetics
D. Beltran Valero de Bernabe
J.H.L.M. van Bokhoven
E. van Beusekom
W. van den Akker
Sarina G. Kant
William B. Dobyns
Bru Cormand
S. Currier
Ben C. J. Hamel
Beril Talim
Haluk Topaloglu
Han G. Brunner
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Citations (140)
Mutation analysis in the candidate Möbius syndrome genes PGT and GATA2 on chromosome 3 and EGR2 on chromosome 10
2002
Journal of Medical Genetics
A. van der Zwaag
H.T.F.M. Verzijl
D. Beltran Valero de Bernabe
Victor L. Schuster
J.H.L.M. van Bokhoven
H. Kremer
M.M.M. van Reen
G.H. Wichers
H.G. Brunner
George W. Padberg
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Citations (25)
1