Topouchian, Vicken
21  Ergebnisse:
Personensuche X
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1

Homozygous Loss-of-Function Mutations in CCDC134 Are Respon..:

Dubail, Johanne ; Brunelle, Perrine ; Baujat, Geneviève...
Journal of Bone and Mineral Research.  35 (2020)  8 - p. 1470-1480 , 2020
 
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3

Orthopedics management of acromicric dysplasia: Follow up o..:

Klein, Céline ; Le Goff, Carine ; Topouchian, Vicken...
American Journal of Medical Genetics Part A.  164 (2013)  2 - p. 331-337 , 2013
 
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4

Expanding the skeletal phenotype of Loeys‐Dietz syndrome:

Sousa, Sérgio B. ; Lambot‐Juhan, Karen ; Rio, Marlène...
American Journal of Medical Genetics Part A.  155 (2011)  5 - p. 1178-1183 , 2011
 
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5

Mutations in the TGFβ Binding-Protein-Like Domain 5 of FBN1..:

Le Goff, Carine ; Mahaut, Clementine, C ; Wang, Lauren W...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ajhg.2011.05.012.  , 2011
 
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9

Mutations in the TGFβ Binding-Protein-Like Domain 5 of FBN1..:

Le Goff, Carine ; Mahaut, Clementine, C ; Wang, Lauren W...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ajhg.2011.05.012.  , 2011
 
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10

Mutations in the TGFβ Binding-Protein-Like Domain 5 of FBN1..:

Le Goff, Carine ; Mahaut, Clementine, C ; Wang, Lauren W...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ajhg.2011.05.012.  , 2011
 
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11

Mutations in the TGFβ Binding-Protein-Like Domain 5 of FBN1..:

Le Goff, Carine ; Mahaut, Clementine, C ; Wang, Lauren W...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ajhg.2011.05.012.  , 2011
 
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12

Mutations in the TGFβ Binding-Protein-Like Domain 5 of FBN1..:

Le Goff, Carine ; Mahaut, Clementine, C ; Wang, Lauren W...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ajhg.2011.05.012.  , 2011
 
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13

Mutations in the TGFβ Binding-Protein-Like Domain 5 of FBN1..:

Le Goff, Carine ; Mahaut, Clementine, C ; Wang, Lauren W...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ajhg.2011.05.012.  , 2011
 
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15

Mutations in the TGFβ Binding-Protein-Like Domain 5 of FBN1..:

Le Goff, Carine ; Mahaut, Clementine, C ; Wang, Lauren W...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ajhg.2011.05.012.  , 2011
 
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