|
🐜
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Transcription Factor E2-2 Is an Essential and Specific Regulator of Plasmacytoid Dendritic Cell Development
14 auth.
B. Cisse,
M. Caton,
M. Lehner,
Takahiro Maeda,
S. Scheu,
R. Locksley,
D. Holmberg,
C. Zweier,
N. S. Hollander,
S. Kant,
...
W. Holter,
A. Rauch,
Zhuang Yuan,
B. Reizis
|
9 |
2008 |
9
🐜
|
|
🐜
|
Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux.
25 auth.
C. Bartels,
H. Bükülmez,
P. Padayatti,
David K. Rhee,
C. V. van Ravenswaaij-Arts,
R. Pauli,
S. Mundlos,
D. Chitayat,
L. Shih,
L. Al-Gazali,
S. Kant,
T. Cole,
J. Morton,
V. Cormier-Daire,
L. Faivre,
...
M. Lees,
J. Kirk,
G. Mortier,
Jules Leroy,
B. Zabel,
C. Kim,
Y. Crow,
N. Braverman,
F. van den Akker,
M. Warman
|
8 |
2004 |
8
🐜
|
|
🐜
|
Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome
18 auth.
G. Santen,
E. Aten,
Yu Sun,
R. Almomani,
C. Gilissen,
M. Nielsen,
S. Kant,
I. Snoeck,
E. Peeters,
Y. Hilhorst-Hofstee,
...
Marja W. Wessels,
N. S. Hollander,
C. Ruivenkamp,
G. V. Ommen,
M. Breuning,
J. T. Dunnen,
A. Haeringen,
M. Kriek
|
8 |
2012 |
8
🐜
|
|
🐜
|
Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome.
14 auth.
C. Gilissen,
H. Arts,
A. Hoischen,
L. Spruijt,
D. Mans,
P. Arts,
B. van Lier,
M. Steehouwer,
J. van Reeuwijk,
S. Kant,
...
R. Roepman,
N. Knoers,
J. Veltman,
H. Brunner
|
8 |
2010 |
8
🐜
|
|
🐜
|
Mutations in CDMP1 cause autosomal dominant brachydactyly type C
15 auth.
A. Polinkovsky,
N. Robin,
J. T. Thomas,
M. Irons,
A. Lynn,
F. Goodman,
W. Reardon,
S. Kant,
H. Brunner,
I. van der Burgt,
...
D. Chitayat,
J. McGaughran,
D. Donnai,
F. Luyten,
M. Warman
|
8 |
1997 |
8
🐜
|
|
🐜
|
Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement
43 auth.
Yu Sun,
B. Bąk,
N. Schoenmakers,
A. Trotsenburg,
W. Oostdijk,
P. Voshol,
E. Cambridge,
Jacqueline K. White,
P. Tissier,
P. Tissier,
S. N. M. Gharavy,
J. Martínez-Barbera,
W. H. Stokvis-Brantsma,
T. Vulsma,
M. Kempers,
...
M. Kempers,
L. Persani,
I. Campi,
M. Bonomi,
P. Beck‐Peccoz,
Hongdong Zhu,
T. Davis,
A. Hokken-Koelega,
Daria Gorbenko Del Blanco,
J. Rangasami,
C. Ruivenkamp,
J. Laros,
M. Kriek,
S. Kant,
C. Bosch,
N. Biermasz,
N. Appelman‐Dijkstra,
E. Corssmit,
G. Hovens,
A. Pereira,
J. T. Dunnen,
M. Wade,
M. Breuning,
R. Hennekam,
K. Chatterjee,
M. Dattani,
J. Wit,
D. Bernard
|
7 |
2012 |
7
🐜
|
|
🐜
|
Coffin–Siris Syndrome and the BAF Complex: Genotype–Phenotype Study in 63 Patients
80 auth.
G. Santen,
E. Aten,
A. V. Vulto-van Silfhout,
C. Pottinger,
B. V. Bon,
Ivonne J.H.M. Minderhout,
Ronelle Snowdowne,
C. Lans,
M. Boogaard,
M. Linssen,
L. Vijfhuizen,
Michiel J.R. Wielen,
M. Vollebregt,
M. Breuning,
M. Kriek,
...
A. Haeringen,
J. D. den Dunnen,
A. Hoischen,
J. Clayton-Smith,
B. Vries,
R. Hennekam,
M. Belzen,
M. Almureikhi,
A. Baban,
M. Barbosa,
T. Ben-Omran,
K. Berry,
S. Bigoni,
O. Boute,
L. Brueton,
I. Burgt,
N. Canham,
K. Chandler,
K. Chrzanowska,
A. Collins,
T. Toni,
J. Dean,
N. S. Hollander,
L. Flore,
A. Fryer,
A. Gardham,
J. Graham,
V. Harrison,
D. Horn,
M. Jongmans,
D. Josifova,
S. Kant,
S. Kapoor,
H. Kingston,
U. Kini,
T. Kleefstra,
M. Krajewska-Walasek,
Nancy Kramer,
S. Maas,
P. Maciel,
G. Mancini,
I. Maystadt,
S. McKee,
J. Milunsky,
S. Nampoothiri,
R. Newbury-Ecob,
S. Nikkel,
M. Parker,
L. Pérez-Jurado,
S. Robertson,
C. Rooryck,
D. Shears,
M. Silengo,
Ankur Singh,
R. Śmigiel,
G. Soares,
M. Splitt,
H. Stewart,
E. Sweeney,
M. Tassabehji,
B. Tuysuz,
Albertien M. Eerde,
C. Vincent-Delorme,
L. Wilson,
G. Yeşil
|
7 |
2013 |
7
🐜
|
|
🐜
|
A maternal hypomethylation syndrome presenting as transient neonatal diabetes mellitus
16 auth.
D. J. Mackay,
D. J. Mackay,
S. E. Boonen,
J. Clayton-Smith,
J. Goodship,
J. Hahnemann,
S. Kant,
P. R. Njølstad,
P. R. Njølstad,
Nathaniel H Robin,
...
David O. Robinson,
Reiner Siebert,
J. P. Shield,
Helen E. White,
I. Temple,
I. Temple
|
7 |
2006 |
7
🐜
|
|
🐜
|
A homozygous nonsense mutation in the Fukutin gene causes a Walker-Warburg syndrome phenotype
12 auth.
D. D. Bernabé,
JH van Bokhoven,
E. Beusekom,
W. V. D. Akker,
S. Kant,
W. Dobyns,
...
B. Cormand,
S. Currier,
B. Hamel,
B. Talim,
H. Topaloğlu,
H. Brunner
|
7 |
2003 |
7
🐜
|
|
🐜
|
A variable degree of intrauterine and postnatal growth retardation in a family with a missense mutation in the insulin-like growth factor I receptor.
10 auth.
M. Walenkamp,
H. V. D. Kamp,
A. Pereira,
S. Kant,
H. A. Duyvenvoorde,
M. Kruithof,
...
M. Breuning,
J. Romijn,
M. Karperien,
J. Wit
|
7 |
2006 |
7
🐜
|
|
🐢
|
MECHANISMS IN ENDOCRINOLOGY: Novel genetic causes of short stature.
J. Wit,
W. Oostdijk,
M. Losekoot,
H. V. van Duyvenvoorde,
C. Ruivenkamp,
S. Kant
|
7 |
2016 |
7
🐢
|
