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LDL Receptor-Related Protein 5 (LRP5) Affects Bone Accrual and Eye Development
62 auth.
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N. Fukai,
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M. Zacharin,
K. Oexle,
J. Marcelino,
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G. Sabatakos,
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W. Adkins,
J. Allgrove,
M. Arslan‐Kirchner,
J. Batch,
P. Beighton,
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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
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11 |
2001 |
11
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Nosology and Classification of Genetic Skeletal Disorders: 2010 Revision
17 auth.
M. Warman,
V. Cormier-Daire,
C. Hall,
D. Krakow,
R. Lachman,
M. Lemerrer,
G. Mortier,
S. Mundlos,
G. Nishimura,
D. Rimoin,
...
S. Robertson,
R. Savarirayan,
D. Sillence,
J. Spranger,
S. Unger,
B. Zabel,
A. Superti-Furga
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9 |
2011 |
9
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Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type.
M. Pepin,
U. Schwarze,
A. Superti-Furga,
P. Byers
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9 |
2000 |
9
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Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification
22 auth.
F. Rutsch,
N. Ruf,
S. Vaingankar,
M. Toliat,
Anita Suk,
W. Höhne,
G. Schauer,
M. Lehmann,
T. Roscioli,
D. Schnabel,
...
J. Epplen,
A. Knisely,
A. Superti-Furga,
J. Mcgill,
M. Filippone,
A. Sinaiko,
H. Vallance,
B. Hinrichs,
Wendy E Smith,
M. Ferre,
R. Terkeltaub,
P. Nürnberg
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9 |
2003 |
9
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Nosology and classification of genetic skeletal disorders: 2015 revision
14 auth.
L. Bonafė,
V. Cormier-Daire,
C. Hall,
R. Lachman,
G. Mortier,
S. Mundlos,
G. Nishimura,
L. Sangiorgi,
R. Savarirayan,
D. Sillence,
...
J. Spranger,
A. Superti-Furga,
M. Warman,
S. Unger
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8 |
2015 |
8
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Nosology and classification of genetic skeletal disorders: 2019 revision
14 auth.
G. Mortier,
D. Cohn,
V. Cormier-Daire,
C. Hall,
D. Krakow,
S. Mundlos,
G. Nishimura,
S. Robertson,
L. Sangiorgi,
R. Savarirayan,
...
D. Sillence,
A. Superti-Furga,
S. Unger,
M. Warman
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8 |
2019 |
8
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Nosology and classification of genetic skeletal disorders: 2006 revision
A. Superti-Furga,
S. Unger
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8 |
2007 |
8
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Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis
8 auth.
D. Shears,
H. Vassal,
F. Goodman,
R. Palmer,
W. Reardon,
A. Superti-Furga,
...
P. Scambler,
R. Winter
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8 |
1998 |
8
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PC-1 nucleoside triphosphate pyrophosphohydrolase deficiency in idiopathic infantile arterial calcification.
11 auth.
F. Rutsch,
S. Vaingankar,
Kristen A. Johnson,
I. Goldfine,
B. Maddux,
Petra Schauerte,
...
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Kimihiko Sano,
W. Boisvert,
A. Superti-Furga,
R. Terkeltaub
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8 |
2001 |
8
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Cyclosporin A slows collagen triple-helix formation in vivo: indirect evidence for a physiologic role of peptidyl-prolyl cis-trans-isomerase.
Beat Steinmann,
P. Bruckner,
A. Superti-Furga
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8 |
1991 |
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Exome Sequencing and the Management of Neurometabolic Disorders.
66 auth.
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M. Tarailo-Graovac,
C. Shyr,
C. Ross,
G. Horvath,
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R. Salvarinova,
X. Ye,
X. Ye,
Lin Hua Zhang,
Amit P. Bhavsar,
Jessica J. Y. Lee,
Jessica J. Y. Lee,
B. Drögemöller,
B. Drögemöller,
...
Mena Abdelsayed,
M. Alfadhel,
L. Armstrong,
M. Baumgartner,
P. Burda,
M. Connolly,
J. Cameron,
M. Demos,
T. Dewan,
J. Dionne,
A. Evans,
J. Friedman,
I. Garber,
I. Garber,
S. Lewis,
Jiqiang Ling,
R. Mandal,
A. Mattman,
M. McKinnon,
A. Michoulas,
D. Metzger,
O. Ogunbayo,
Bojana Rakić,
J. Rozmus,
P. Ruben,
B. Sayson,
S. Santra,
K. R. Schultz,
K. Selby,
Paul Shekel,
S. Sirrs,
C. Skrypnyk,
A. Superti-Furga,
S. Turvey,
M. V. Allen,
D. Wishart,
Jiang Wu,
John K Wu,
D. Zafeiriou,
L. Kluijtmans,
R. Wevers,
P. Eydoux,
A. Lehman,
H. Vallance,
S. Stockler-Ipsiroglu,
S. Stockler-Ipsiroglu,
G. Sinclair,
W. Wasserman,
W. Wasserman,
C. Karnebeek,
C. Karnebeek
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8 |
2016 |
8
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|
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Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta.
25 auth.
Y. Alanay,
Hrispima Avaygan,
Natalia Camacho,
G. Utine,
K. Boduroğlu,
D. Aktaş,
M. Alikaşifoğlu,
E. Tunçbilek,
D. Orhan,
F. Bakar,
B. Zabel,
A. Superti-Furga,
L. Bruckner-Tuderman,
Cindy J R Curry,
Shawna M. Pyott,
...
P. Byers,
D. Eyre,
Dustin Baldridge,
Brendan H. Lee,
Amy E. Merrill,
E. Davis,
D. Cohn,
D. Cohn,
N. Akarsu,
D. Krakow
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2010 |
8
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