|
🐜
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Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness
35 auth.
S. Wortmann,
F. Vaz,
T. Gardeitchik,
L. Vissers,
G. Renkema,
J. Schuurs-Hoeijmakers,
W. Kulik,
M. Lammens,
Christin Christin,
L. Kluijtmans,
R. Rodenburg,
L. Nijtmans,
A. Grünewald,
C. Klein,
J. Gerhold,
...
T. Kozicz,
P. Hasselt,
M. Harakalova,
W. Kloosterman,
I. Barić,
E. Pronicka,
S. K. Uçar,
Karin Naess,
K. Singhal,
Z. Krūmiņa,
C. Gilissen,
H. Bokhoven,
J. Veltman,
J. Smeitink,
D. Lefeber,
J. N. Spelbrink,
J. N. Spelbrink,
R. Wevers,
E. Morava,
A. Brouwer
|
7 |
2012 |
7
🐜
|
|
🐜
|
International clinical guidelines for the management of phosphomannomutase 2‐congenital disorders of glycosylation: Diagnosis, treatment and follow up
54 auth.
R. Altassan,
Romain Péanne,
J. Jaeken,
R. Barone,
M. Bidet,
D. Borgel,
S. Brasil,
D. Cassiman,
A. Čechová,
D. Coman,
J. Corral,
J. Correia,
M. E. de la Morena-Barrio,
P. de Lonlay,
Vanessa dos Reis,
...
C. Ferreira,
A. Fiumara,
R. Francisco,
H. Freeze,
S. Funke,
T. Gardeitchik,
M. Gert,
Muriel Girad,
M. Girós,
S. Grünewald,
T. Hernández-Caselles,
T. Honzík,
Marlen Hutter,
D. Krasnewich,
Christina Lam,
J. Lee,
D. Lefeber,
D. Marques-da-Silva,
Antonio Martínez,
H. Moravej,
K. Õunap,
C. Pascoal,
T. Pascreau,
M. Patterson,
D. Quelhas,
K. Raymond,
P. Sarkhail,
M. Schiff,
M. Seroczyńska,
M. Serrano,
N. Seta,
J. Sykut-Cegielska,
C. Thiel,
F. Tort,
M. Vals,
P. Videira,
P. Witters,
R. Zeevaert,
E. Morava
|
6 |
2019 |
6
🐜
|
|
🐜
|
Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa.
45 auth.
T. Damme,
T. Gardeitchik,
M. Mohamed,
S. Guerrero-Castillo,
P. Freisinger,
Brecht Guillemyn,
A. Kariminejad,
D. Dalloyaux,
S. V. Kraaij,
D. Lefeber,
D. Syx,
W. Steyaert,
R. Rycke,
A. Hoischen,
E. Kamsteeg,
...
Sunnie Y. Wong,
M. V. Scherpenzeel,
P. Jamali,
U. Brandt,
L. Nijtmans,
G. Korenke,
B. Chung,
C. Mak,
I. Hausser,
U. Kornak,
U. Kornak,
Björn Fischer-Zirnsak,
Björn Fischer-Zirnsak,
T. Strom,
T. Meitinger,
Y. Alanay,
G. Utine,
P. K. Leung,
S. Ghaderi-sohi,
P. Coucke,
S. Symoens,
A. Paepe,
C. Thiel,
T. Haack,
T. Haack,
F. Malfait,
E. Morava,
E. Morava,
B. Callewaert,
R. Wevers
|
6 |
2017 |
6
🐜
|
|
🐜
|
Further characterization of ATP6V0A2-related autosomal recessive cutis laxa
25 auth.
B. Fischer,
Aikaterini Dimopoulou,
J. Egerer,
T. Gardeitchik,
A. Kidd,
D. Jost,
H. Kayserili,
Y. Alanay,
I. Tantcheva‐poór,
E. Mangold,
C. Daumer-Haas,
S. Phadke,
R. Peirano,
Julia Heusel,
Charu Desphande,
...
Neerja Gupta,
A. Nanda,
Emma Felix,
E. Berry-Kravis,
M. Kabra,
R. Wevers,
L. Maldergem,
S. Mundlos,
E. Morava,
U. Kornak
|
6 |
2012 |
6
🐜
|
|
🐜
|
HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients
33 auth.
S. Moortgat,
S. Berland,
I. Aukrust,
I. Maystadt,
L. Baker,
V. Benoit,
A. Caro-Llopis,
N. Cooper,
F. Debray,
L. Faivre,
T. Gardeitchik,
B. Haukanes,
G. Houge,
E. Kivuva,
F. Martínez,
...
S. Mehta,
M. Nassogne,
N. Powell-Hamilton,
R. Pfundt,
M. Roselló,
T. Prescott,
P. Vasudevan,
B. van Loon,
C. Verellen‐Dumoulin,
A. Verloes,
C. Lippe,
E. Wakeling,
A. Wilkie,
L. Wilson,
A. Yuen,
D. Study,
K. Low,
R. Newbury-Ecob
|
6 |
2017 |
6
🐜
|
|
🐜
|
Rapid whole exome sequencing in pregnancies to identify the underlying genetic cause in fetuses with congenital anomalies detected by ultrasound imaging
24 auth.
Chantal Deden,
K. Neveling,
Dimitra Zafeiropopoulou,
C. Gilissen,
R. Pfundt,
T. Rinne,
N. de Leeuw,
B. Faas,
T. Gardeitchik,
S. Sallevelt,
...
A. Paulussen,
S. Stevens,
E. Sikkel,
M. Elting,
M. V. van Maarle,
K. Diderich,
N. Corsten‐Janssen,
K. Lichtenbelt,
G. Lachmeijer,
L. Vissers,
H. Yntema,
M. Nelen,
I. Feenstra,
W. V. van Zelst-Stams
|
6 |
2020 |
6
🐜
|
|
🐬
|
Metabolic cutis laxa syndromes
M. Mohamed,
D. Kouwenberg,
T. Gardeitchik,
U. Kornak,
R. Wevers,
E. Morava
|
6 |
2011 |
6
🐬
|
|
🐜
|
Depressive behaviour in children diagnosed with a mitochondrial disorder.
10 auth.
E. Morava,
T. Gardeitchik,
T. Kozicz,
L. de Boer,
S. Koene,
M. D. De Vries,
...
R. Mcfarland,
T. Roobol,
R. Rodenburg,
C. Verhaak
|
6 |
2010 |
6
🐜
|
|
🐜
|
Nijmegen paediatric CDG rating scale: a novel tool to assess disease progression
20 auth.
Samira Achouitar,
M. Mohamed,
T. Gardeitchik,
S. Wortmann,
J. Sykut-Cegielska,
R. Ensenauer,
H. D. de Baulny,
K. Õunap,
D. Martinelli,
M. D. De Vries,
...
R. Mcfarland,
D. Kouwenberg,
Miranda Theodore,
F. Wijburg,
S. Grünewald,
J. Jaeken,
R. Wevers,
L. Nijtmans,
J. Elson,
E. Morava
|
5 |
2011 |
5
🐜
|
