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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
Ciliary Abnormalities Due to Defects in the Retrograde Transport Protein DYNC2H1 in Short-Rib Polydactyly Syndrome
Ciliary Abnormalities Due to Defects in the Retrograde Transport Protein DYNC2H1 in Short-Rib Polydactyly Syndrome
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Ciliary Abnormalities Due to Defects in the Retrograde Transport Protein DYNC2H1 in Short-Rib Polydactyly Syndrome

Merrill, Amy E. ; Merriman, Barry ; Farrington-Rock, Claire ; Camacho, Natalia ; Sebald, Eiman T. ; Funari, Vincent A. ; Schibler, Matthew J. ; Firestein, Marc H. ; Cohn, Zachary A. ; Priore, Mary Ann ; Thompson, Alicia K. ; Rimoin, David L. ; Nelson, Stanley F. ; Cohn, Daniel H. ; Krakow, Deborah

American journal of human genetics, 2009-04, Vol.84 (4), p.542-549 [Periódico revisado por pares]

Cambridge, MA: Elsevier Inc

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4
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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5
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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6
Loss of CHSY1, a Secreted FRINGE Enzyme, Causes Syndromic Brachydactyly in Humans via Increased NOTCH Signaling
Loss of CHSY1, a Secreted FRINGE Enzyme, Causes Syndromic Brachydactyly in Humans via Increased NOTCH Signaling
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Loss of CHSY1, a Secreted FRINGE Enzyme, Causes Syndromic Brachydactyly in Humans via Increased NOTCH Signaling

Tian, Jing ; Ling, Ling ; Shboul, Mohammad ; Lee, Hane ; O'Connor, Brian ; Merriman, Barry ; Nelson, Stanley F. ; Cool, Simon ; Ababneh, Osama H. ; Al-Hadidy, Azmy ; Masri, Amira ; Hamamy, Hanan ; Reversade, Bruno

American journal of human genetics, 2010-12, Vol.87 (6), p.768-778 [Periódico revisado por pares]

Cambridge, MA: Elsevier Inc

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7
NEK1 Mutations Cause Short-Rib Polydactyly Syndrome Type Majewski
NEK1 Mutations Cause Short-Rib Polydactyly Syndrome Type Majewski
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NEK1 Mutations Cause Short-Rib Polydactyly Syndrome Type Majewski

Thiel, Christian ; Kessler, Kristin ; Giessl, Andreas ; Dimmler, Arno ; Shalev, Stavit A. ; von der Haar, Sigrun ; Zenker, Martin ; Zahnleiter, Diana ; Stöss, Hartmut ; Beinder, Ernst ; Abou Jamra, Rami ; Ekici, Arif B. ; Schröder-Kreß, Nadja ; Aigner, Thomas ; Kirchner, Thomas ; Reis, André ; Brandstätter, Johann H. ; Rauch, Anita

American journal of human genetics, 2011-01, Vol.88 (1), p.106-114 [Periódico revisado por pares]

Cambridge, MA: Elsevier Inc

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8
Human and Mouse Mutations in WDR35 Cause Short-Rib Polydactyly Syndromes Due to Abnormal Ciliogenesis
Human and Mouse Mutations in WDR35 Cause Short-Rib Polydactyly Syndromes Due to Abnormal Ciliogenesis
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Human and Mouse Mutations in WDR35 Cause Short-Rib Polydactyly Syndromes Due to Abnormal Ciliogenesis

Mill, Pleasantine ; Lockhart, Paul J. ; Fitzpatrick, Elizabeth ; Mountford, Hayley S. ; Hall, Emma A. ; Reijns, Martin A.M. ; Keighren, Margaret ; Bahlo, Melanie ; Bromhead, Catherine J. ; Budd, Peter ; Aftimos, Salim ; Delatycki, Martin B. ; Savarirayan, Ravi ; Jackson, Ian J. ; Amor, David J.

American journal of human genetics, 2011-04, Vol.88 (4), p.508-515 [Periódico revisado por pares]

Cambridge, MA: Elsevier Inc

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9
Exome Sequencing Identifies CCDC8 Mutations in 3-M Syndrome, Suggesting that CCDC8 Contributes in a Pathway with CUL7 and OBSL1 to Control Human Growth
Exome Sequencing Identifies CCDC8 Mutations in 3-M Syndrome, Suggesting that CCDC8 Contributes in a Pathway with CUL7 and OBSL1 to Control Human Growth
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Exome Sequencing Identifies CCDC8 Mutations in 3-M Syndrome, Suggesting that CCDC8 Contributes in a Pathway with CUL7 and OBSL1 to Control Human Growth

Hanson, Dan ; Murray, Philip G. ; O'Sullivan, James ; Urquhart, Jill ; Daly, Sarah ; Bhaskar, Sanjeev S. ; Biesecker, Leslie G. ; Skae, Mars ; Smith, Claire ; Cole, Trevor ; Kirk, Jeremy ; Chandler, Kate ; Kingston, Helen ; Donnai, Dian ; Clayton, Peter E. ; Black, Graeme C.M.

American journal of human genetics, 2011-07, Vol.89 (1), p.148-153 [Periódico revisado por pares]

Cambridge, MA: Elsevier Inc

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10
Exome Sequencing Identifies INPPL1 Mutations as a Cause of Opsismodysplasia
Exome Sequencing Identifies INPPL1 Mutations as a Cause of Opsismodysplasia
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Exome Sequencing Identifies INPPL1 Mutations as a Cause of Opsismodysplasia

Huber, Céline ; Faqeih, Eissa Ali ; Bartholdi, Deborah ; Bole-Feysot, Christine ; Borochowitz, Zvi ; Cavalcanti, Denise P. ; Frigo, Amandine ; Nitschke, Patrick ; Roume, Joelle ; Santos, Heloísa G. ; Shalev, Stavit A. ; Superti-Furga, Andrea ; Delezoide, Anne-Lise ; Le Merrer, Martine ; Munnich, Arnold ; Cormier-Daire, Valérie

American journal of human genetics, 2013-01, Vol.92 (1), p.144-149 [Periódico revisado por pares]

United States: Elsevier Inc

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