|
🐜
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Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus
64 auth.
Beverley H Anderson,
P. Kasher,
Joséphine Mayer,
M. Szynkiewicz,
E. Jenkinson,
S. Bhaskar,
J. Urquhart,
Sarah B. Daly,
Jonathan E. Dickerson,
J. O’Sullivan,
E. O. Leibundgut,
J. Muter,
Ghada M H Abdel-Salem,
R. Babul‐Hirji,
P. Baxter,
...
A. Berger,
L. Bonafė,
Janice E Brunstom-Hernandez,
Johannes A Buckard,
D. Chitayat,
W. Chong,
D. Cordelli,
P. Ferreira,
J. Fluss,
E. Forrest,
E. Franzoni,
C. Garone,
S. Hammans,
G. Houge,
I. Hughes,
S. Jacquemont,
P. Jeannet,
R. Jefferson,
Ram Kumar,
G. Kutschke,
S. Lundberg,
Charles M Lourenço,
R. Mehta,
S. Naidu,
K. Nischal,
L. Nunes,
K. Õunap,
M. Philippart,
P. Prabhakar,
Sarah R. Risen,
R. Schiffmann,
C. Soh,
J. Stephenson,
H. Stewart,
J. Stone,
J. Tolmie,
M. Knaap,
J. P. Vieira,
C. Vilain,
E. Wakeling,
V. Wermenbol,
A. Whitney,
S. Lovell,
S. Meyer,
J. Livingston,
G. Baerlocher,
G. Black,
G. Rice,
Y. Crow
|
8 |
2012 |
8
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|
|
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Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.
83 auth.
Frank J. Kaiser,
Morad Ansari,
D. Braunholz,
María Concepción Gil-Rodríguez,
C. Decroos,
Jonathan J. Wilde,
Christopher T. Fincher,
M. Kaur,
M. Bando,
David J. Amor,
P. Atwal,
M. Bahlo,
Christine M. Bowman,
Jacquelyn J. Bradley,
H. Brunner,
...
Dinah Clark,
Miguel del Campo,
N. Di Donato,
Peter Diakumis,
Holly A. Dubbs,
D. Dyment,
Juliane Eckhold,
Sarah Ernst,
Jose C. Ferreira,
Lauren J. Francey,
U. Gehlken,
E. Guillén-Navarro,
Y. Gyftodimou,
Bryan D. Hall,
R. Hennekam,
L. Hudgins,
Melanie A. Hullings,
Jennifer M. Hunter,
H. Yntema,
A. Innes,
A. Kline,
Z. Krūmiņa,
Hane Lee,
K. Leppig,
S. Lynch,
M. Mallozzi,
Linda Mannini,
S. McKee,
S. Mehta,
I. Micule,
S. Mohammed,
E. Moran,
G. Mortier,
J.-A.S. Moser,
Sarah E. Noon,
N. Nozaki,
L. Nunes,
J. Pappas,
L. Penney,
A. Pérez-Aytés,
Michael B. Petersen,
B. Puisac,
N. Revencu,
E. Roeder,
S. Saitta,
Angela E. Scheuerle,
Karen Schindeler,
Victoria M. Siu,
Zornitza Stark,
Samuel P. Strom,
Heidi A. Thiese,
I. Vater,
P. Willems,
K. Williamson,
L. Wilson,
H. Hakonarson,
F. Quintero-Rivera,
J. Wierzba,
A. Musio,
G. Gillessen‐Kaesbach,
F. Ramos,
Laird G. Jackson,
K. Shirahige,
J. Pié,
David W. Christianson,
I. Krantz,
David R Fitzpatrick,
M. Deardorff
|
7 |
2014 |
7
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|
|
🐜
|
Genetic Screening of LCA in Belgium: Predominance of CEP290 and Identification of Potential Modifier Alleles in AHI1 of CEP290-related Phenotypes
19 auth.
F. Coppieters,
I. Casteels,
F. Meire,
S. De Jaegere,
S. Hooghe,
N. van Regemorter,
H. Van Esch,
A. Matulevičienė,
L. Nunes,
V. Meersschaut,
...
S. Walraedt,
L. Standaert,
P. Coucke,
H. Hoeben,
H. Kroes,
J. Vande Walle,
T. de Ravel,
B. Leroy,
E. de Baere
|
7 |
2010 |
7
🐜
|
|
🐬
|
Mosaic Trisomy 18 in a Five-Month-Old Infant
A. Fitas,
M. Paiva,
A. Cordeiro,
L. Nunes,
G. Cordeiro-Ferreira
|
3 |
2013 |
3
🐬
|
|
🐜
|
Molecular studies in Portuguese patients with Smith-Lemli-Opitz syndrome and report of three new mutations in DHCR7.
17 auth.
M. L. Cardoso,
A. Balreira,
E. Martins,
L. Nunes,
A. Cabral,
M. Marqués,
M. R. Lima,
J. Marques,
A. Medeira,
I. Cordeiro,
...
S. Pedro,
M. C. Mota,
C. Dionisi-Vici,
F. Santorelli,
C. Jakobs,
P. Clayton,
L. Vilarinho
|
3 |
2005 |
3
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|
