|
🐜
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LDL Receptor-Related Protein 5 (LRP5) Affects Bone Accrual and Eye Development
62 auth.
Y. Gong,
R. Slee,
N. Fukai,
G. Rawadi,
S. Roman-Roman,
A. Reginato,
Hongwei Wang,
T. Cundy,
F. Glorieux,
D. Lev,
M. Zacharin,
K. Oexle,
J. Marcelino,
W. Suwairi,
S. Heeger,
...
G. Sabatakos,
S. Apte,
W. Adkins,
J. Allgrove,
M. Arslan‐Kirchner,
J. Batch,
P. Beighton,
G. Black,
R. Boles,
L. Boon,
C. Borrone,
H. Brunner,
G. Carle,
B. Dallapiccola,
A. Paepe,
Barbara Floege,
Melissa Lees Halfhide,
B. Hall,
R. Hennekam,
T. Hirose,
A. Jans,
H. Jüppner,
C. Kim,
K. Keppler-Noreuil,
A. Kohlschuetter,
D. Lacombe,
M. Lambert,
E. Lemyre,
T. Letteboer,
L. Peltonen,
R. Ramesar,
M. Romanengo,
H. Somer,
E. Steichen‐Gersdorf,
B. Steinmann,
Beth Sullivan,
A. Superti-Furga,
W. Swoboda,
M. V. D. Boogaard,
W. Hul,
M. Vikkula,
M. Votruba,
B. Zabel,
Teresa Garcia,
R. Baron,
B. Olsen,
M. Warman
|
11 |
2001 |
11
🐜
|
|
🐬
|
Revised diagnostic criteria for the Marfan syndrome.
A. De Paepe,
R. B. Devereux,
H. Dietz,
R. Hennekam,
R. Pyeritz
|
10 |
1996 |
10
🐬
|
|
🐜
|
Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP
11 auth.
Fred Petrif,
R. Giles,
H. Dauwerse,
J. Saris,
R. Hennekam,
M. Masuno,
...
N. Tommerup,
G. V. Ommen,
R. Goodman,
D. Peters,
M. Breuning
|
10 |
1995 |
10
🐜
|
|
🐜
|
Heterozygous Germline Mutations in the p53 Homolog p63 Are the Cause of EEC Syndrome
19 auth.
J. Celli,
Pascal H. G. Duijf,
B. Hamel,
M. Bamshad,
B. Kramer,
A. Smits,
R. Newbury-Ecob,
R. Hennekam,
G. Buggenhout,
A. Haeringen,
...
C. Woods,
A. Essen,
R. Waal,
G. Vriend,
D. Haber,
A. Yang,
F. McKeon,
H. Brunner,
H. Bokhoven
|
9 |
1999 |
9
🐜
|
|
🐜
|
Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes.
84 auth.
H. Mefford,
A. Sharp,
Carl A. Baker,
A. Itsara,
Zhaoshi Jiang,
K. Buysse,
Shuwen Huang,
V. Maloney,
J. Crolla,
D. Baralle,
A. Collins,
C. Mercer,
Koen Norga,
T. de Ravel,
K. Devriendt,
...
E. Bongers,
N. de Leeuw,
W. Reardon,
S. Gimelli,
F. Béna,
R. Hennekam,
Alison M. Male,
L. Gaunt,
J. Clayton-Smith,
I. Simonic,
Soo-Mi Park,
S. Mehta,
S. Nik-Zainal,
C. Woods,
H. Firth,
G. Parkin,
M. Fichera,
S. Reitano,
M. Giudice,
Kelly Li,
I. Casuga,
A. Broomer,
B. Conrad,
M. Schwerzmann,
L. Räber,
S. Gallati,
P. Striano,
A. Coppola,
J. Tolmie,
E. Tobias,
C. Lilley,
L. Armengol,
Y. Spysschaert,
P. Verloo,
Anja De Coene,
L. Goossens,
G. Mortier,
F. Speleman,
E. van Binsbergen,
M. Nelen,
R. Hochstenbach,
M. Poot,
L. Gallagher,
M. Gill,
J. McClellan,
M. King,
R. Regan,
C. Skinner,
R. Stevenson,
S. Antonarakis,
Caifu Chen,
X. Estivill,
B. Menten,
G. Gimelli,
S. Gribble,
S. Schwartz,
J. Sutcliffe,
T. Walsh,
S. Knight,
J. Sebat,
C. Romano,
C. Schwartz,
J. Veltman,
B. D. de Vries,
J. Vermeesch,
J. Barber,
L. Willatt,
M. Tassabehji,
E. Eichler
|
9 |
2008 |
9
🐜
|
|
🐜
|
Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome
20 auth.
A. Sharp,
S. Hansen,
R. Selzer,
Ze Cheng,
R. Regan,
J. Hurst,
H. Stewart,
S. Price,
E. Blair,
R. Hennekam,
...
Carrie A. Fitzpatrick,
R. Segraves,
T. Richmond,
Cheryl Guiver,
D. Albertson,
D. Pinkel,
P. S. Eis,
S. Schwartz,
S. Knight,
E. Eichler
|
9 |
2006 |
9
🐜
|
|
🐜
|
Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome
24 auth.
T. Niihori,
Y. Aoki,
Y. Narumi,
G. Neri,
H. Cavé,
A. Verloes,
N. Okamoto,
R. Hennekam,
G. Gillessen‐Kaesbach,
D. Wieczorek,
...
M. I. Kavamura,
K. Kurosawa,
H. Ohashi,
L. Wilson,
D. Heron,
D. Bonneau,
G. Corona,
T. Kaname,
K. Naritomi,
C. Baumann,
N. Matsumoto,
Kumi Kato,
S. Kure,
Y. Matsubara
|
9 |
2006 |
9
🐜
|
|
🦁
|
Hutchinson–Gilford progeria syndrome: Review of the phenotype
R. Hennekam
|
9 |
2006 |
9
🦁
|
|
🐢
|
The Smith-Lemli-Opitz syndrome
R. Kelley,
R. Hennekam
|
9 |
2000 |
9
🐢
|
|
🐜
|
Mapping the human DC lineage through the integration of high-dimensional techniques
36 auth.
Peter See,
C. Dutertre,
Jinmiao Chen,
Patrick Günther,
N. McGovern,
S. E. Irac,
Merry Gunawan,
M. Beyer,
K. Händler,
Kaibo Duan,
Hermi Sumatoh,
N. Ruffin,
M. Jouve,
E. Gea-Mallorquí,
R. Hennekam,
...
T. Lim,
Chan Chung Yip,
Ming Wen,
B. Malleret,
Ivy Low,
Nurhidaya Binte Shadan,
Charlene Foong Shu Fen,
Alicia Tay,
Josephine Lum,
F. Zolezzi,
A. Larbi,
M. Poidinger,
J. Chan,
Qingfeng Chen,
L. Rénia,
M. Haniffa,
P. Benaroch,
A. Schlitzer,
J. Schultze,
E. Newell,
F. Ginhoux
|
8 |
2017 |
8
🐜
|
|
🐜
|
Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-paired
8 auth.
Stephen P. A. Brown,
D. Warburton,
Lucia Y. Brown,
Chih-yu Yu,
E. Roeder,
S. Stengel-Rutkowski,
...
R. Hennekam,
M. Muenke
|
8 |
1998 |
8
🐜
|
|
🐜
|
Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease.
12 auth.
J. Roelfsema,
S. White,
Yavuz Ariyürek,
D. Bartholdi,
D. Niedrist,
F. Papadia,
...
C. Bacino,
J. D. den Dunnen,
G. V. van Ommen,
M. Breuning,
R. Hennekam,
D. Peters
|
8 |
2005 |
8
🐜
|
|
🐜
|
Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith–Wiedemann syndrome: an international consensus statement
41 auth.
F. Brioude,
J. Kalish,
A. Mussa,
A. Foster,
J. Bliek,
G. Ferrero,
S. E. Boonen,
T. Cole,
R. Baker,
M. Bertoletti,
G. Cocchi,
C. Coze,
M. Pellegrin,
K. Hussain,
A. Ibrahim,
...
M. Kilby,
M. Krajewska-Walasek,
C. Kratz,
E. Ladusans,
P. Lapunzina,
Y. Bouc,
S. Maas,
F. Macdonald,
K. Õunap,
L. Peruzzi,
S. Rossignol,
S. Russo,
C. Shipster,
A. Skórka,
K. Tatton-Brown,
J. Tenorio,
C. Tortora,
K. Grønskov,
I. Netchine,
R. Hennekam,
D. Prawitt,
Z. Tümer,
T. Eggermann,
D. Mackay,
A. Riccio,
E. Maher
|
8 |
2018 |
8
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|
