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Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes
74 auth.
J. Lemke,
Dennis Lal,
E. Reinthaler,
I. Steiner,
M. Nothnagel,
M. Alber,
Kirsten Geider,
B. Laube,
M. Schwake,
Katrin Finsterwalder,
A. Franke,
M. Schilhabel,
J. Jähn,
H. Muhle,
R. Boor,
...
W. Paesschen,
R. Caraballo,
N. Fejerman,
S. Weckhuysen,
P. Jonghe,
J. Larsen,
R. Møller,
H. Hjalgrim,
L. Addis,
Sha Tang,
E. Hughes,
D. Pal,
K. Veri,
U. Vaher,
T. Talvik,
P. Dimova,
Rosa Guerrero López,
J. Serratosa,
T. Linnankivi,
A. Lehesjoki,
S. Ruf,
M. Wolff,
S. Buerki,
G. Wohlrab,
J. Kroell,
A. Datta,
B. Fiedler,
G. Kurlemann,
G. Kluger,
A. Hahn,
D. E. Haberlandt,
C. Kutzer,
J. Sperner,
F. Becker,
Y. Weber,
M. Feucht,
Hannelore Steinböck,
Birgit Neophythou,
G. Ronen,
U. Gruber‐Sedlmayr,
J. Geldner,
R. Harvey,
P. Hoffmann,
Per Hoffmann,
S. Herms,
S. Herms,
J. Altmüller,
M. Toliat,
H. Thiele,
P. Nürnberg,
C. Wilhelm,
U. Stephani,
I. Helbig,
H. Lerche,
F. Zimprich,
B. Neubauer,
S. Biskup,
S. Biskup,
S. Spiczak
|
8 |
2013 |
8
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Targeted next generation sequencing as a diagnostic tool in epileptic disorders
31 auth.
J. Lemke,
E. Riesch,
Tim Scheurenbrand,
M. Schubach,
C. Wilhelm,
I. Steiner,
J. Hansen,
C. Courage,
S. Gallati,
S. Bürki,
S. Strozzi,
B. G. Simonetti,
S. Grunt,
M. Steinlin,
M. Alber,
...
M. Wolff,
T. Klopstock,
E. Prott,
Rüdiger Lorenz,
C. Spaich,
S. Rona,
M. Lakshminarasimhan,
J. Kröll,
T. Dorn,
G. Krämer,
M. Synofzik,
F. Becker,
Y. Weber,
H. Lerche,
D. Böhm,
S. Biskup
|
8 |
2012 |
8
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|
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Alu‐Alu recombination underlies the vast majority of large VHL germline deletions: Molecular characterization and genotype–phenotype correlations in VHL patients
8 auth.
G. Franke,
B. Bausch,
M. Hoffmann,
M. Cybulla,
C. Wilhelm,
J. Kohlhase,
...
G. Scherer,
H. Neumann
|
6 |
2009 |
6
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|
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SALL4 deletions are a common cause of Okihiro and acro-renal-ocular syndromes and confirm haploinsufficiency as the pathogenic mechanism
12 auth.
W. Borozdin,
D. Boehm,
M. Leipoldt,
C. Wilhelm,
W. Reardon,
J. Clayton-Smith,
...
K. Becker,
H. Mühlendyck,
R. Winter,
Ö. Giray,
F. Sılan,
J. Kohlhase
|
6 |
2004 |
6
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SALL4 is directly activated by TCF/LEF in the canonical Wnt signaling pathway.
J. Böhm,
C. Sustmann,
C. Wilhelm,
J. Kohlhase
|
6 |
2006 |
6
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|
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Pure and syndromic optic atrophy explained by deep intronic OPA1 mutations and an intralocus modifier.
18 auth.
Tobias Bonifert,
K. Karle,
F. Tonagel,
M. Batra,
C. Wilhelm,
Yvonne Theurer,
Caroline Schoenfeld,
T. Kluba,
Y. Kamenisch,
V. Carelli,
...
Julia Wolf,
Michael A. Gonzalez,
Fiorella Speziani,
R. Schüle,
S. Züchner,
L. Schöls,
B. Wissinger,
M. Synofzik
|
6 |
2014 |
6
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|
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Molecular basis of Kindler syndrome in Italy: novel and recurrent Alu/Alu recombination, splice site, nonsense, and frameshift mutations in the KIND1 gene.
15 auth.
C. Has,
V. Wessagowit,
M. Pascucci,
Corinna Baer,
B. Didona,
C. Wilhelm,
C. Pedicelli,
A. Locatelli,
J. Kohlhase,
G. Ashton,
...
G. Tadini,
G. Zambruno,
L. Bruckner-Tuderman,
J. McGrath,
D. Castiglia
|
6 |
2006 |
6
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|
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Mutant superoxide dismutase-1 indistinguishable from wild-type causes ALS.
14 auth.
M. Synofzik,
D. Ronchi,
Isil Keskin,
A. Başak,
C. Wilhelm,
C. Gobbi,
A. Birve,
S. Biskup,
C. Zecca,
R. Fernández-Santiago,
...
T. Kaugesaar,
L. Schöls,
S. Marklund,
P. Andersen
|
5 |
2012 |
5
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|
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Arterial rupture in classic Ehlers–Danlos syndrome with COL5A1 mutation
G. Borck,
P. Beighton,
C. Wilhelm,
J. Kohlhase,
C. Kubisch
|
5 |
2010 |
5
🐬
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|
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Molecular analysis of the CHD7 gene in CHARGE syndrome: identification of 22 novel mutations and evidence for a low contribution of large CHD7 deletions
12 auth.
Pia Vuorela,
S. Ala‐Mello,
C. Saloranta,
M. Penttinen,
M. Pöyhönen,
K. Huoponen,
...
W. Borozdin,
B. Bausch,
E. Botzenhart,
C. Wilhelm,
H. Kääriäinen,
J. Kohlhase
|
5 |
2007 |
5
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