|
🐜
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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
🐜
|
|
🐜
|
Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation
25 auth.
Özge Altug Teber,
G. Gillessen‐Kaesbach,
S. Fischer,
S. Böhringer,
B. Albrecht,
A. Albert,
M. Arslan‐Kirchner,
E. Haan,
M. Hagedorn-Greiwe,
C. Hammans,
W. Henn,
G. Hinkel,
R. König,
E. Kunstmann,
J. Kunze,
...
L. Neumann,
E. Prott,
A. Rauch,
H. Rott,
H. Seidel,
S. Spranger,
M. Sprengel,
B. Zoll,
D. Lohmann,
D. Wieczorek
|
7 |
2004 |
7
🐜
|
|
🐜
|
Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1
21 auth.
A. Gregor,
B. Albrecht,
I. Bader,
E. Bijlsma,
A. Ekici,
H. Engels,
K. Hackmann,
D. Horn,
Juliane Hoyer,
J. Klapecki,
...
J. Kohlhase,
I. Maystadt,
Sandra Nagl,
E. Prott,
S. Tinschert,
R. Ullmann,
E. Wohlleber,
G. Woods,
A. Reis,
A. Rauch,
C. Zweier
|
7 |
2011 |
7
🐜
|
|
🐜
|
A mutation screen in patients with Kabuki syndrome
23 auth.
Yun Li,
N. Bögershausen,
Y. Alanay,
P. Ö. Şimşek Kiper,
Nadine Plume,
Katharina Keupp,
E. Pohl,
B. Pawlik,
Martin Rachwalski,
Esther Milz,
...
M. Thoenes,
B. Albrecht,
E. Prott,
Margret Lehmkühler,
S. Demuth,
G. Utine,
K. Boduroğlu,
K. Frankenbusch,
G. Borck,
G. Gillessen‐Kaesbach,
G. Yigit,
D. Wieczorek,
B. Wollnik
|
6 |
2011 |
6
🐜
|
|
🐜
|
Is there a higher incidence of maternal uniparental disomy 14 [upd(14)mat]? Detection of 10 new patients by methylation‐specific PCR
9 auth.
D. Mitter,
K. Buiting,
F. von Eggeling,
A. Kuechler,
T. Liehr,
U. Mau-Holzmann,
...
E. Prott,
D. Wieczorek,
G. Gillessen‐Kaesbach
|
6 |
2006 |
6
🐜
|
|
🐜
|
The first missense alteration in the MCPH1 gene causes autosomal recessive microcephaly with an extremely mild cellular and clinical phenotype
10 auth.
M. Trimborn,
Reyk Richter,
Nadine Sternberg,
I. Gavvovidis,
D. Schindler,
A. Jackson,
...
E. Prott,
K. Sperling,
G. Gillessen‐Kaesbach,
H. Neitzel
|
6 |
2005 |
6
🐜
|
|
🐜
|
Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome.
42 auth.
D. Wieczorek,
W. Newman,
T. Wieland,
Tea Berulava,
Maria Kaffe,
D. Falkenstein,
C. Beetz,
E. Graf,
T. Schwarzmayr,
S. Douzgou,
J. Clayton-Smith,
Sarah B. Daly,
S. Williams,
S. Bhaskar,
J. Urquhart,
...
Beverley H Anderson,
J. O’Sullivan,
O. Boute,
Jasmin Gundlach,
J. Czeschik,
A. V. van Essen,
F. Hazan,
Sarah S. Park,
A. Hing,
A. Kuechler,
D. Lohmann,
K. Ludwig,
E. Mangold,
L. Steenpass,
M. Zeschnigk,
J. Lemke,
C. Lourenço,
U. Hehr,
E. Prott,
M. Waldenberger,
A. Böhmer,
B. Horsthemke,
R. O’Keefe,
T. Meitinger,
J. Burn,
H. Lüdecke,
T. Strom
|
5 |
2014 |
5
🐜
|
|
🐜
|
Behavioral phenotype in five individuals with de novo mutations within the GRIN2B gene
13 auth.
I. Freunscht,
B. Popp,
R. Blank,
S. Endele,
U. Moog,
H. Petri,
E. Prott,
A. Reis,
Jochen Rübo,
B. Zabel,
...
M. Zenker,
J. Hebebrand,
D. Wieczorek
|
5 |
2013 |
5
🐜
|
|
🐜
|
IGF2/H19 hypomethylation in Silver–Russell syndrome and isolated hemihypoplasia
10 auth.
M. Zeschnigk,
B. Albrecht,
K. Buiting,
Deniz Kanber,
T. Eggermann,
G. Binder,
...
J. Gromoll,
E. Prott,
S. Seland,
B. Horsthemke
|
5 |
2008 |
5
🐜
|
|
🐜
|
The influence of low molecular weight heparin medication on plasma DNA in pregnant women
12 auth.
S. Grömminger,
S. Erkan,
Ulrike Schöck,
Kerstin Stangier,
J. Bonnet,
R. Schloo,
...
Angela M. Schubert,
E. Prott,
U. Knoll,
M. Stumm,
C. Kalle,
W. Hofmann
|
5 |
2015 |
5
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|
