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31 research outputs found
The clinical and molecular genetic approach to Duchenne and Becker muscular dystrophy: an updated protocol
Author
A H van der Hout
A J van Essen
+90 more
A L Kneppers
Abbs S.
Abbs S.
Abbs S.
AbbsS Roberts R.G.
Anderson L.V.B.
Bakker E.
Bakker E.
Bakker E.
Barbieri A.M.
Beggs A.H.
Bernier F.P.
Bieber F.R.
Blonden L.A.
Blonden L.A.
C H Buys
Chamberlain J.S.
Chelly J.
Clemens P.R.
Clerk A.
Covone A.E.
Darras B.T.
Delhanty J.D.
E Bakker
Emery A.E.H.
Evans M.I.
Evans M.I.
Florentin L.
G J van Ommen
Gardner R.J.
Grimm T.
Grimm T.
Grompe M.
Guldberg P.
H Scheffer
Hoffman E.P.
Hoffman E.P.
Hoffman E.P.
Hum Genet
I B Ginjaar
Ioannou P.
Jennekens F.G.
Kilimann M.W.
King B.
Koenig M.
Kuller J.A.
L P ten Kate
Lau Y.L.
Liebaers I.
Liu J.
McCabe E.R.
Melis M.A.
Miranda A.F.
Moser H.
Moyret C.
N Van Orsouw
Nicholson L.V.
Nigro G.
Nigro V.
Nystrom-Lahti M.
Oliveira A.S.
Oudet C.
Passos-Bueno M.R.
Prior T.W.
Prior T.W.
Prior T.W.
Restagno G.
Richards R.I.
Ried T.
Roberts R.G.
Roest P.A.
Roest P.A.
Roest P.A.M.
Saito K.
Sancho S.
Sarkar G.
Sarkar G.
Sekizawa A.
Slunga-Tallberg A.
Speer A.
T Neuen Jacob E.
Tocharoentanaphol C.
Tubiello G.
Tuffery S.
Uchino M.
Vainzof M.
van Essen AJ
Wood S.
Wu Y.
Yamagishi H.
Publication venue
Publication date
01/01/1997
Field of study
Get PDF
Crossref
Deletion analysis for Duchenne (and Becker) muscular dystrophy
Author
Bartlett R.J.
Darras B.T.
Darras B.T.
Lanman J.T.
Publication venue
'Wiley'
Publication date
Field of study
No full text
Crossref
Prenatal diagnosis and carrier detection by DNA studies in a Duchenne muscular dystrophy family with no living affected male
Author
Chen J.D.
Darras B.T.
+3 more
Golbus M.S.
Ionasescu V.V.
Thomas N.S.T.
Publication venue
'Wiley'
Publication date
Field of study
No full text
Crossref
Assessing spinal muscular atrophy with quantitative ultrasound
Author
Alfen N. van
Boon A.J.
+5 more
Darras B.T.
Pillen S.
Rutkove S.B.
Sorenson E.J.
Wu J.S.
Publication venue
Publication date
01/01/2011
Field of study
No full text
Item does not contain fulltex
Radboud Repository
Multiplex PCR
Author
Beggs A.H.
Darras B.T.
+5 more
Dunnen J.T.
Hu X.Y.
Koenig M.
Kunkel L.M.
Winnard A.V.
Publication venue
'Wiley'
Publication date
Field of study
No full text
Crossref
DMD carrier detection in a female with mosaic Turner's syndrome.
Author
Darras B.T.
E del Rio
+7 more
E Tizzano
Koenig M.
M Baiget
P Gallano
Speer A.
T Perez-Vidal
V Volpini
Publication venue
'BMJ'
Publication date
Field of study
No full text
Crossref
Interim report on the safety and efficacy of longer-term treatment with nusinersen in later-onset spinal muscular atrophy (SMA): Results from the shine study
Author
B.T. Darras
C.A. Chiriboga
+13 more
E. Mercuri
G. Gambino
I. Bhan
J. Kirschner
J. Montes
J. Wong
M. Tulinius
M.A. Farrar
N.L. Kuntz
P.B. Shieh
R. Foster
S.P. Reyna
W. Farwell
Publication venue
'Elsevier BV'
Publication date
Field of study
No full text
Crossref
Identification of a balanced translocation carrier by spouse's low maternal serum alpha fetoprotein associated with an aneuploid fetus.
Author
Bakker E.
Bakker E.
+12 more
Darras B.T.
Drugan A.
Gardner-Medwin D.
Goto I.
H E Hoyme
K Byrne-Essif
McCormick D.
Pearce J.M.S.
Seay A.R.
Vainzof M.
Wood S.
Zatz M.
Publication venue
'BMJ'
Publication date
Field of study
No full text
Crossref
Multiple mutation in an extended Duchenne muscular dystrophy family.
Author
A Keen
A Miciak
+14 more
Anand R.
D Jadayel
Darras B.T.
Emery A.
Feinberg A.P.
Forrest S.M.
Hu X.
Kazazanian H.
Koenig M.
Lin C.S.
S Bundey
Sambrook J.
Southern E.M.
Zatz M.
Publication venue
'BMJ'
Publication date
Field of study
No full text
Crossref
Germinal mosaicism increases the recurrence risk for 'new' Duchenne muscular dystrophy mutations.
Author
Bakker E.
Bakker E.
+30 more
Bakker E.
Bakker E.
Brocker-Vriends A.H.J.T.
Byers P.H.
C van Broeckhoven
Darras B.T.
Darras B.T.
E Bakker
E J Bonten
Emery A.E.H.
Fishbeck K.H.
Forrest S.M.
Forrest S.M.
G J van Ommen
Gitschier J.
H Veenema
Haldane J.B.S.
Hall J.
Harper P.S.
Hartl D.L.
J T Den Dunnen
Koenig M.
Maddalana A.
Monaco A.P.
Monaco A.P.
Murphy E.A.
P L Pearson
P M Grootscholten
Pearson P.L.
Wood S.
Publication venue
'BMJ'
Publication date
Field of study
No full text
Crossref
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