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Refinado por: assunto: Fundamental And Applied Biological Sciences. Psychology remover American Journal Of Human Genetics remover assunto: Genes remover
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A Recessive Skeletal Dysplasia, SEMD Aggrecan Type, Results from a Missense Mutation Affecting the C-Type Lectin Domain of Aggrecan
A Recessive Skeletal Dysplasia, SEMD Aggrecan Type, Results from a Missense Mutation Affecting the C-Type Lectin Domain of Aggrecan
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A Recessive Skeletal Dysplasia, SEMD Aggrecan Type, Results from a Missense Mutation Affecting the C-Type Lectin Domain of Aggrecan

Tompson, Stuart W. ; Merriman, Barry ; Funari, Vincent A. ; Fresquet, Maryline ; Lachman, Ralph S. ; Rimoin, David L. ; Nelson, Stanley F. ; Briggs, Michael D. ; Cohn, Daniel H. ; Krakow, Deborah

American journal of human genetics, 2009-01, Vol.84 (1), p.72-79 [Periódico revisado por pares]

Cambridge, MA: Elsevier Inc

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2
Mutations in the Gene Encoding the Calcium-Permeable Ion Channel TRPV4 Produce Spondylometaphyseal Dysplasia, Kozlowski Type and Metatropic Dysplasia
Mutations in the Gene Encoding the Calcium-Permeable Ion Channel TRPV4 Produce Spondylometaphyseal Dysplasia, Kozlowski Type and Metatropic Dysplasia
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Mutations in the Gene Encoding the Calcium-Permeable Ion Channel TRPV4 Produce Spondylometaphyseal Dysplasia, Kozlowski Type and Metatropic Dysplasia

Krakow, Deborah ; Vriens, Joris ; Camacho, Natalia ; Luong, Phi ; Deixler, Hannah ; Funari, Tara L. ; Bacino, Carlos A. ; Irons, Mira B. ; Holm, Ingrid A. ; Sadler, Laurie ; Okenfuss, Ericka B. ; Janssens, Annelies ; Voets, Thomas ; Rimoin, David L. ; Lachman, Ralph S. ; Nilius, Bernd ; Cohn, Daniel H.

American journal of human genetics, 2009-03, Vol.84 (3), p.307-315 [Periódico revisado por pares]

Cambridge, MA: Elsevier Inc

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3
A Missense Mutation in the Aggrecan C-type Lectin Domain Disrupts Extracellular Matrix Interactions and Causes Dominant Familial Osteochondritis Dissecans
A Missense Mutation in the Aggrecan C-type Lectin Domain Disrupts Extracellular Matrix Interactions and Causes Dominant Familial Osteochondritis Dissecans
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A Missense Mutation in the Aggrecan C-type Lectin Domain Disrupts Extracellular Matrix Interactions and Causes Dominant Familial Osteochondritis Dissecans

Stattin, Eva-Lena ; Wiklund, Fredrik ; Lindblom, Karin ; Önnerfjord, Patrik ; Jonsson, Björn-Anders ; Tegner, Yelverton ; Sasaki, Takako ; Struglics, André ; Lohmander, Stefan ; Dahl, Niklas ; Heinegård, Dick ; Aspberg, Anders

American journal of human genetics, 2010-02, Vol.86 (2), p.126-137 [Periódico revisado por pares]

Cambridge, MA: Elsevier Inc

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4
Fibrochondrogenesis Results from Mutations in the COL11A1 Type XI Collagen Gene
Fibrochondrogenesis Results from Mutations in the COL11A1 Type XI Collagen Gene
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Fibrochondrogenesis Results from Mutations in the COL11A1 Type XI Collagen Gene

Tompson, Stuart W. ; Bacino, Carlos A. ; Safina, Nicole P. ; Bober, Michael B. ; Proud, Virginia K. ; Funari, Tara ; Wangler, Michael F. ; Nevarez, Lisette ; Ala-Kokko, Leena ; Wilcox, William R. ; Eyre, David R. ; Krakow, Deborah ; Cohn, Daniel H.

American journal of human genetics, 2010-11, Vol.87 (5), p.708-712 [Periódico revisado por pares]

Cambridge, MA: Elsevier Inc

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