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🐜
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The TREAT-NMD DMD Global Database: Analysis of More than 7,000 Duchenne Muscular Dystrophy Mutations
61 auth.
C. Bladen,
D. Salgado,
S. Monges,
M. Foncuberta,
K. Kekou,
K. Kosma,
H. Dawkins,
Leanne Lamont,
A. Roy,
T. Chamova,
V. Guergueltcheva,
S. Chan,
L. Korngut,
C. Campbell,
Y. Dai,
...
Jen Wang,
N. Barišić,
P. Brabec,
J. Lahdetie,
M. Walter,
O. Schreiber-Katz,
V. Karcagi,
M. Garami,
V. Viswanathan,
Farhad Bayat,
F. Buccella,
E. Kimura,
Z. Koeks,
J. C. van den Bergen,
M. Rodrigues,
R. Roxburgh,
A. Lusakowska,
A. Kostera-Pruszczyk,
J. Zimowski,
Rosário Santos,
E. Neagu,
S. Artemieva,
V. Rašić,
D. Vojinovic,
M. Posada,
C. Bloetzer,
P. Jeannet,
F. Joncourt,
J. Díaz-Manera,
E. Gallardo,
A. Karaduman,
H. Topaloğlu,
R. El Sherif,
A. Stringer,
A. Shatillo,
Ann S. Martin,
H. Peay,
M. Bellgard,
J. Kirschner,
K. Flanigan,
V. Straub,
K. Bushby,
J. Verschuuren,
A. Aartsma-Rus,
C. Béroud,
Hanns Lochmüller
|
9 |
2015 |
9
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|
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Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database
65 auth.
Z. Koeks,
C. Bladen,
D. Salgado,
E. W. Zwet,
O. Pogoryelova,
G. McMacken,
S. Monges,
M. Foncuberta,
K. Kekou,
K. Kosma,
H. Dawkins,
Leanne Lamont,
M. Bellgard,
A. Roy,
T. Chamova,
...
V. Guergueltcheva,
S. Chan,
L. Korngut,
C. Campbell,
Y. Dai,
Jen Wang,
N. Barišić,
P. Brabec,
J. Lahdetie,
M. Walter,
O. Schreiber-Katz,
V. Karcagi,
M. Garami,
Á. Herczegfalvi,
V. Viswanathan,
Farhad Bayat,
F. Buccella,
A. Ferlini,
E. Kimura,
J. Bergen,
M. Rodrigues,
R. Roxburgh,
A. Lusakowska,
A. Kostera-Pruszczyk,
Rosário Santos,
E. Neagu,
S. Artemieva,
V. Rašić,
D. Vojinovic,
D. Vojinovic,
M. Posada,
C. Bloetzer,
A. Klein,
J. Díaz-Manera,
E. Gallardo,
A. Karaduman,
T. Oznur,
H. Topaloğlu,
R. Sherif,
A. Stringer,
A. Shatillo,
Ann S. Martin,
H. Peay,
J. Kirschner,
K. Flanigan,
V. Straub,
K. Bushby,
C. Béroud,
J. Verschuuren,
H. Lochmüller
|
7 |
2017 |
7
🐜
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|
🐜
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Mutation spectrum and phenotypic manifestation in FSHD Greek patients
8 auth.
P. Sakellariou,
K. Kekou,
H. Fryssira,
C. Sofocleous,
P. Manta,
A. Panousopoulou,
...
K. Gounaris,
E. Kanavakis
|
5 |
2012 |
5
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Phenotype‐driven variant filtration strategy in exome sequencing toward a high diagnostic yield and identification of 85 novel variants in 400 patients with rare Mendelian disorders
10 auth.
Nikolaos M. Marinakis,
M. Svingou,
Danai Veltra,
K. Kekou,
C. Sofocleous,
Faidon-Nikolaos Tilemis,
...
K. Kosma,
E. Tsoutsou,
H. Fryssira,
J. Traeger-Synodinos
|
5 |
2021 |
5
🐜
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|
🐜
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Tall Stature, Insulin Resistance, and Disturbed Behavior in a Girl with the Triple X Syndrome Harboring Three SHOX Genes: Offspring of a Father with Mosaic Klinefelter Syndrome but with Two Maternal X Chromosomes
8 auth.
C. Kanaka-Gantenbein,
S. Kitsiou,
A. Mavrou,
L. Stamoyannou,
A. Kolialexi,
K. Kekou,
...
M. Liakopoulou,
G. Chrousos
|
4 |
2004 |
4
🐜
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|
🐜
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Germline CNV Detection through Whole-Exome Sequencing (WES) Data Analysis Enhances Resolution of Rare Genetic Diseases
11 auth.
Faidon-Nikolaos Tilemis,
Nikolaos M. Marinakis,
Danai Veltra,
M. Svingou,
K. Kekou,
A. Mitrakos,
...
M. Tzetis,
K. Kosma,
P. Makrythanasis,
J. Traeger-Synodinos,
C. Sofocleous
|
4 |
2023 |
4
🐜
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|
🐬
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Early onset posterior subscapular cataract in a series of myotonic dystrophy type 2 patients
C. Papadopoulos,
K. Kekou,
S. Xirou,
S. Kitsiou-tzeli,
E. Kararizou,
G. Papadimas
|
3 |
2017 |
3
🐬
|
|
🐬
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Orofacial Manifestations Associated with Muscular Dystrophies: A Review.
Petros Papaefthymiou,
K. Kekou,
Fulya Özdemir
|
3 |
2022 |
3
🐬
|
|
🐜
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Screening Human Genes for Small Alterations Performing an Enzymatic Cleavage Mismatched Analysis (ECMA) Protocol
7 auth.
N. Vogiatzakis,
K. Kekou,
C. Sophocleous,
S. Kitsiou,
A. Mavrou,
C. Bakoula,
...
E. Kanavakis
|
3 |
2007 |
3
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