|
🐜
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High-throughput analysis of subtelomeric chromosome rearrangements by use of array-based comparative genomic hybridization.
10 auth.
J. Veltman,
E. Schoenmakers,
B. Eussen,
I. Janssen,
G. Merkx,
B. V. van Cleef,
...
C. V. van Ravenswaaij,
H. Brunner,
D. Smeets,
A. V. van Kessel
|
7 |
2002 |
7
🐜
|
|
🐜
|
Baraitser–Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases
52 auth.
A. Verloes,
N. Di Donato,
Julien Masliah-Planchon,
M. Jongmans,
Omar A Abdul-Raman,
B. Albrecht,
J. Allanson,
H. Brunner,
D. Bertola,
N. Chassaing,
A. David,
K. Devriendt,
P. Eftekhari,
V. Drouin‐Garraud,
F. Faravelli,
...
L. Faivre,
F. Giuliano,
Leina Guion Almeida,
J. Juncos,
M. Kempers,
H. K. Eker,
D. Lacombe,
A. Lin,
G. Mancini,
D. Melis,
C. Lourenço,
V. Siu,
G. Morin,
M. Nezarati,
M. Nowaczyk,
J. Ramer,
S. Osimani,
N. Philip,
M. Pierpont,
V. Procaccio,
Zeichi-Seide Roseli,
M. Rossi,
C. Rusu,
Y. Sznajer,
L. Templin,
V. Uliana,
M. Klaus,
B. V. van Bon,
C. V. van Ravenswaaij,
B. Wainer,
A. Fry,
A. Rump,
A. Hoischen,
S. Drunat,
J. Rivière,
W. Dobyns,
D. Pilz
|
6 |
2014 |
6
🐜
|
|
🐢
|
Familial CHARGE syndrome and the CHD7 gene: A recurrent missense mutation, intrafamilial recurrence and variability
11 auth.
M. Jongmans,
L. Hoefsloot,
Kim P van der Donk,
R. Admiraal,
A. Magee,
I. M. van de Laar,
...
Y. Hendriks,
J. Verheij,
Ian R. Walpole,
H. Brunner,
C. V. van Ravenswaaij
|
6 |
2008 |
6
🐢
|
|
🐬
|
Interstitial 6q deletion with a Prader-Willi-like phenotype: a new case and review of the literature.
H. Gilhuis,
C. V. van Ravenswaaij,
B. Hamel,
F. Gabreëls
|
6 |
2000 |
6
🐬
|
|
🐜
|
An update on ECARUCA, the European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations.
9 auth.
A. V. Vulto-van Silfhout,
C. V. van Ravenswaaij,
J. Hehir-Kwa,
E. Verwiel,
Rita Dirks,
S. van Vooren,
...
A. Schinzel,
B. D. de Vries,
N. de Leeuw
|
5 |
2013 |
5
🐜
|
|
🐜
|
Two related Dutch families with a clinically variable presentation of cardioskeletal myopathy caused by a novel S13F mutation in the desmin gene.
7 auth.
J. Bergman,
H. Veenstra-Knol,
A. V. van Essen,
C. V. van Ravenswaaij,
W. D. Den Dunnen,
A. van den Wijngaard,
...
J. V. van Tintelen
|
5 |
2007 |
5
🐜
|
|
🐢
|
Cryptic duplication of the distal segment of 22q due to a translocation (21;22): three case reports and a review of the literature.
7 auth.
I. Feenstra,
D. Koolen,
J. van der Pas,
B. Hamel,
H. Mieloo,
D. Smeets,
...
C. V. van Ravenswaaij
|
5 |
2006 |
5
🐢
|
|
🐬
|
Chromosome 3 translocations and familial renal cell cancer.
A. Bonné,
D. Bodmer,
E. Schoenmakers,
C. V. van Ravenswaaij,
N. Hoogerbrugge,
A. V. van Kessel
|
5 |
2004 |
5
🐬
|
|
🐜
|
A novel microdeletion, del(2)(q22.3q23.3) in a mentally retarded patient, detected by array‐based comparative genomic hybridization
8 auth.
D. Koolen,
L. Vissers,
W. Nillesen,
D. Smeets,
C. V. van Ravenswaaij,
E. Sistermans,
...
J. Veltman,
B. D. de Vries
|
4 |
2004 |
4
🐜
|
