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21 research outputs found
Improved Molecular Diagnosis of Dystrophin Gene Mutations Using the Multiplex Ligation-Dependent Probe Amplification Method
Author
DEN DUNNEN J.T.
GILLARD E.F.
+4Â more
HOGERVORST F.B.
KOENIG M.
Marianne Schwartz
Morten Dunø
Publication venue
'Mary Ann Liebert Inc'
Publication date
Field of study
No full text
Crossref
Novel Mini–Dystrophin Gene Dual Adeno-Associated Virus Vectors Restore Neuronal Nitric Oxide Synthase Expression at the Sarcolemma
Author
Beggs A.H.
Dongsheng Duan
+6Â more
Duan D.
Duan D.
Gillard E.F.
Grange R.W.
Koenig M.
Yadong Zhang
Publication venue
'Mary Ann Liebert Inc'
Publication date
Field of study
No full text
Crossref
Hypogonadotrophic hypogonadism with hyposmia, X-linked ichthyosis, and renal malformation syndrome
Author
Bardin C.W.
Bedin M.
+14Â more
Bouloux P.M.G.
Gillard E.F.
Henkin R.I.
Kallmann F.J.
Kirk J.M.W.
Koppe J.G.
Legouis R.
Lynch H.T.
Martul P.
Murugasu B.
Pashayan H.M.
Petit C.
Shapiro L.J.
Wegenke J.D.
Publication venue
'Wiley'
Publication date
Field of study
No full text
Crossref
Detection of a novel mutation in the ryanodine receptor gene in an Irish malignant hyperthermia pedigree: correlation of the IVCT response with the affected and unaffected haplotypes.
Author
Brillantes A.B.
Britt B.A.
+35Â more
Chomczynski P.
Couch F.J.
Fujii J.
Gillard E.F.
Gillard E.F.
Hackl W.
hyperthernoia Britt BAMalignant
Iles D.E.
Iles D.E.
Iles D.E.
J J Heffron
K A Quane
K E Keating
Keating K.E.
L Giblin
Larach M.G.
Levitt R.C.
Levitt R.C.
Lopez J.
M Lehane
MacKenzie A.E.
MacLennan D.H.
MartyI Robert M.
Mickelson JR, Gallant
Nelson T.E.
Ording H.
Ostu K.
P J Lynch
Philips M.S.
Quane K.A.
Quane K.A.
Quane K.A.
T V McCarthy
Zhang Y.
Zorzato F.
Publication venue
'BMJ'
Publication date
Field of study
No full text
Crossref
Analysis of Scottish Duchenne and Becker muscular dystrophy families with dystrophin cDNA probes.
Author
A Cooke
A J McWhinnie
+23Â more
A Kataki
A Morris
D E Wilcox
Darras B.T.
E F Gillard
E S Dornan
Forrest S.M.
Gillard E.F.
Hofker M.H.
J M Connor
Koenig M.
Koenig M.
Kunkel L.M.
Liechti-Gallati S.
M A Ferguson-Smith
Maniatis T.
Monaco A.P.
Ray P.N.
Smith T.J.
van Ommen GJB
W G Lanyon
Wapenaar M.C.
Wilcox D.E.
Publication venue
'BMJ'
Publication date
Field of study
No full text
Crossref
Diagnosis of malignant hyperthermia: a comparison of the in vitro contracture test with the molecular genetic diagnosis in a large pedigree.
Author
Allen G.C.
Ball S.P.
+38Â more
Britt B.A.
Couch F.J.
Denborough M.A.
Deufel T.
Dubowitz V.
Ellis F.R.
Eng G.D.
Genet Am J.Hum
Gillard E.F.
Gillard E.F.
Gronert G.A.
Iles D.E.
Iles D.E.
In Ording H.
Isaacs H.
J J Heffron
J M Healy
K A Quane
K E Keating
Keating K.E.
Larach M.G.
Larach M.G.
Larach M.G.
Lathrop G.M.
Levitt R.C.
M Lehane
MacKenzie A.E.
McCarthy T.V.
Ording H.
Phillips M.S.
Quane K.A.
Quane K.A.
Quane K.A.
Sudbrak R.
T V McCarthy
Weber J.L.
Weber J.L.
Zhang Y.
Publication venue
'BMJ'
Publication date
Field of study
No full text
Crossref
A very large spontaneous deletion ataprt locus in CHO cells: Sequence similarities with smallaprt deletions
Author
A.D. Goddard
A.E. Simon
+60Â more
A.E. Simon
A.K. Konopka
A.M. Krowczynska
A.P. Monaco
A.U. Mendoza
C.H. Squires
C.L. Vnencak-Jones
D.C. Schwartz
D.E. Riley
D.J. Roufa
E. Lee
E.F. Gillard
E.F. Gillard
E.F. Vanin
G. Phear
G. Sargent
G.M. Adair
G.R. Smith
H. Zhang
J. Nalbantoglu
J. Nalbantoglu
J. Nalbantoglu
J. Nalbantoglu
J. Whang-Peng
J.E. Majors
J.T. Dunne Den
M. Sander
M.A. Lehrman
M.A. Lehrman
M.A. Lehrman
M.A. Lehrman
M.D. Been
M.F. Hansen
M.J. Siciliano
M.W. Jennings
N. Fasel
N. Murray
P. Dewyse
P. Dewyse
P.H. Yen
P.J. Jong De
P.N. Cockerill
P.S. Henthorn
R. Bookstein
R. Myerowitz
R. Sager
R.D. Nicholls
R.F. Fowler
R.G. Worton
S. Canning
S.H. Friend
S.H. Friend
S.M. Gasser
S.M. Gasser
T. Maniatis
T. Nikaido
W.D. Benton
W.E.C. Bradley
W.E.C. Bradley
Y.K.T. Fung
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref
Screening for mutations in the muscle promoter region and for exonic deletions in a series of 115 DMD and BMD patients.
Author
C Angelini
Chelly J.
+23Â more
Chelly J.
Emery A.E.H.
England S.B.
F Schiavon
G A Danieli
Gilgenkrantz H.
Gilgenkrantz H.
Gillard E.F.
Hoffmann E.P.
JT Den Dunnen
Klamut H.J.
Koenig M.
L Nicoletti
L Vitiello
M L Mostacciuolo
Malhotra S.B.
Miller S.A.
Monaco A.P.
Nicholson L.V.B.
S Oliviero
Vitiello L.
Wapenaar M.C.
Yaffe D.
Publication venue
'BMJ'
Publication date
Field of study
No full text
Crossref
A TaqI map of the dystrophin gene useful for deletion and carrier status analysis.
Author
A P Walker
B A Kakulas
+24Â more
Bartlett R.J.
Baumbach L.L.
Chamberlain J.S.
D C Chandler
Darras B.T.
Gillard E.F.
Hoffman E.P.
JT Den Dunnen
Koenig M.
Koenig M.
Koenig M.
Laing N.G.
Laing N.G.
Laing N.G.
Laing N.G.
Malhotra S.B.
Monaco A.P.
N G Laing
Pericak-Vance M.A.
R J Bartlett
Speer M.C.
T Yamada
Walker A.P.
Yamaoka L.H.
Publication venue
'BMJ'
Publication date
Field of study
No full text
Crossref
A novel splice site mutation in a Becker muscular dystrophy patient.
Author
A C Papp
A H Burghes
+22Â more
Breathnach R.
Burrow K.
C Bartolo
C D Hall
Gillard E.F.
Hu X.
J R Mendell
Jackson I.J.
Klein C.J.
Koenig M.
Liechti-Gallati S.
M S Sedra
Monaco A.P.
Mount S.M.
P J Snyder
Padgett R.A.
Prior T.W.
Roberts R.G.
Roberts R.G.
Shapiro M.B.
T W Prior
Wilton S.D.
Publication venue
'BMJ'
Publication date
Field of study
No full text
Crossref
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