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Charlotta Diesen
Charlotta Diesen
University of Helsinki
Congenital muscular dystrophy
Fukutin
Endocrinology
Internal medicine
Muscular dystrophy
4
Papers
353
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POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease
2004
Journal of Medical Genetics
Charlotta Diesen
Saarinen A
Helena Pihko
Rosenlew C
Bru Cormand
William B. Dobyns
Dieguez J
Leena Valanne
Tarja Joensuu
A.E. Lehesjoki
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Citations (59)
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)
Enzymatic diagnostic test for Muscle-Eye-Brain type congenital muscular dystrophy using commercially available reagents
2003
Clinical Biochemistry
Wenli Zhang
Jiri Vajsar
Pinjiang Cao
Galen N. Breningstall
Charlotta Diesen
William B. Dobyns
R. Herrmann
Anna-Elina Lehesjoki
Alice Steinbrecher
Beril Talim
Tatsushi Toda
Haluk Topaloglu
Thomas Voit
Harry Schachter
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Citations (47)
Zhang, W. et al. Enzymatic diagnostic test for muscle-eye-brain type congenital muscular dystrophy using commercially available reagents. Clin. Biochem. 36, 339-344
2003
Clinical Biochemistry
Wenli Zhang
Jiri Vajsar
Pinjiang Cao
Galen N. Breningstall
Charlotta Diesen
William B. Dobyns
R. Herrmann
Anna-Elina Lehesjoki
Alice Steinbrecher
Beril Talim
Tatsushi Toda
Haluk Topaloglu
Thomas Voit
Harry Schachter
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