Search Results - Krakow, Deborah

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  1. 1
    Skeletal Dysplasias

    Skeletal Dysplasias by Krakow, Deborah

    Published 2015
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  2. 2
    Response to Shaheen et al.

    Response to Shaheen et al. by Alanay, Yasemin, Krakow, Deborah

    Published 2010
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  3. 3
    Guidelines for the prenatal diagnosis of fetal skeletal dysplasias

    Guidelines for the prenatal diagnosis of fetal skeletal dysplasias by Krakow, Deborah, Lachman, Ralph S., Rimoin, David L.

    Published 2009
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  4. 4
    Genes uniquely expressed in human growth plate chondrocytes uncover a distinct regulatory network

    Genes uniquely expressed in human growth plate chondrocytes uncover a distinct regulatory network by Li, Bing, Balasubramanian, Karthika, Krakow, Deborah, Cohn, Daniel H.

    Published 2017
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  5. 5
    Genetic evaluation of suspected osteogenesis imperfecta (OI)

    Genetic evaluation of suspected osteogenesis imperfecta (OI) by Byers, Peter H., Krakow, Deborah, Nunes, Mark E., Pepin, Melanie

    Published 2006
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  6. 6
    The Erlenmeyer Flask Bone Deformity in the Skeletal Dysplasias

    The Erlenmeyer Flask Bone Deformity in the Skeletal Dysplasias by Faden, Maha A., Krakow, Deborah, Ezgu, Fatih, Rimoin, David L., Lachman, Ralph S.

    Published 2009
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  7. 7
    Dysregulation of Chondrogenesis in Human Cleidocranial Dysplasia

    Dysregulation of Chondrogenesis in Human Cleidocranial Dysplasia by Zheng, Qiping, Sebald, Eiman, Zhou, Guang, Chen, Yuqing, Wilcox, William, Lee, Brendan, Krakow, Deborah

    Published 2005
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  8. 8
    A Second Locus for Schneckenbecken Dysplasia Identified by a Mutation in the Gene Encoding Inositol Polyphosphate Phosphatase-Like 1 (INPPL1)

    A Second Locus for Schneckenbecken Dysplasia Identified by a Mutation in the Gene Encoding Inositol Polyphosphate Phosphatase-Like 1 (INPPL1) by Lee, Hane, Nevarez, Lisette, Lachman, Ralph S., Wilcox, William R., Krakow, Deborah, Cohn, Daniel H.

    Published 2015
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  9. 9
    A new biometric: in-utero growth curves for metacarpal and phalangeal lengths reveals an embryonic patterning ratio

    A new biometric: in-utero growth curves for metacarpal and phalangeal lengths reveals an embryonic patterning ratio by Rao, Rashmi, Gornbein, Jeffrey, Afshar, Yalda, Platt, Lawrence D., DeVore, Greggory R., Krakow, Deborah

    Published 2019
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  10. 10
    Dominance of SOX9 function over RUNX2 during skeletogenesis

    Dominance of SOX9 function over RUNX2 during skeletogenesis by Zhou, Guang, Zheng, Qiping, Engin, Feyza, Munivez, Elda, Chen, Yuqing, Sebald, Eiman, Krakow, Deborah, Lee, Brendan

    Published 2006
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  11. 11
    GDF5 Is a Second Locus for Multiple-Synostosis Syndrome

    GDF5 Is a Second Locus for Multiple-Synostosis Syndrome by Dawson, Katherine, Seeman, Petra, Sebald, Eiman, King, Lily, Edwards, Matthew, Williams III, John, Mundlos, Stephan, Krakow, Deborah

    Published 2006
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  12. 12
    Spondylocarpotarsal synostosis: long-term follow-up of a case due to FLNB mutations

    Spondylocarpotarsal synostosis: long-term follow-up of a case due to FLNB mutations by Brunetti-Pierri, Nicola, Esposito, Valentina, De Brasi, Daniele, Mattiacci, Dario Maria, Krakow, Deborah, Lee, Brendan, Salerno, Mariacarolina

    Published 2008
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  13. 13
    Evaluation of Prenatal-Onset Osteochondrodysplasias by Ultrasonography: A Retrospective and Prospective Analysis

    Evaluation of Prenatal-Onset Osteochondrodysplasias by Ultrasonography: A Retrospective and Prospective Analysis by Krakow, Deborah, Alanay, Yasemin, Rimoin, Lauren P., Lin, Victoria, Wilcox, William R., Lachman, Ralph S., Rimoin, David L.

    Published 2008
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  14. 14
    Somatic Mosaicism for a Lethal TRPV4 Mutation Results in Non-Lethal Metatropic Dysplasia

    Somatic Mosaicism for a Lethal TRPV4 Mutation Results in Non-Lethal Metatropic Dysplasia by Weinstein, Michael M., Kang, Taekyu, Lachman, Ralph S., Bamshad, Michael, Nickerson, Deborah A., Krakow, Deborah, Cohn, Daniel H.

    Published 2016
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  15. 15
    Cartilage-selective genes identified in genome-scale analysis of non-cartilage and cartilage gene expression

    Cartilage-selective genes identified in genome-scale analysis of non-cartilage and cartilage gene expression by Funari, Vincent A, Day, Allen, Krakow, Deborah, Cohn, Zachary A, Chen, Zugen, Nelson, Stanley F, Cohn, Daniel H

    Published 2007
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  16. 16
    Bent bone dysplasia syndrome reveals nucleolar activity for FGFR2 in ribosomal DNA transcription

    Bent bone dysplasia syndrome reveals nucleolar activity for FGFR2 in ribosomal DNA transcription by Neben, Cynthia L., Idoni, Brian, Salva, Joanna E., Tuzon, Creighton T., Rice, Judd C., Krakow, Deborah, Merrill, Amy E.

    Published 2014
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  17. 17
    IFT52 mutations destabilize anterograde complex assembly, disrupt ciliogenesis and result in short rib polydactyly syndrome

    IFT52 mutations destabilize anterograde complex assembly, disrupt ciliogenesis and result in short rib polydactyly syndrome by Zhang, Wenjuan, Taylor, S. Paige, Nevarez, Lisette, Lachman, Ralph S., Nickerson, Deborah A., Bamshad, Michael, Krakow, Deborah, Cohn, Daniel H.

    Published 2016
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  18. 18
    Mental Retardation and Abnormal Skeletal Development (Dyggve-Melchior-Clausen Dysplasia) Due to Mutations in a Novel, Evolutionarily Conserved Gene

    Mental Retardation and Abnormal Skeletal Development (Dyggve-Melchior-Clausen Dysplasia) Due to Mutations in a Novel, Evolutionarily Conserved Gene by Cohn, Daniel H., Ehtesham, Nadia, Krakow, Deborah, Unger, Sheila, Shanske, Alan, Reinker, Kent, Powell, Berkley R., Rimoin, David L.

    Published 2003
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  19. 19
    Altered mRNA Splicing, Chondrocyte Gene Expression and Abnormal Skeletal Development due to SF3B4 Mutations in Rodriguez Acrofacial Dysostosis

    Altered mRNA Splicing, Chondrocyte Gene Expression and Abnormal Skeletal Development due to SF3B4 Mutations in Rodriguez Acrofacial Dysostosis by Marques, Felipe, Tenney, Jessica, Duran, Ivan, Martin, Jorge, Nevarez, Lisette, Pogue, Robert, Krakow, Deborah, Cohn, Daniel H., Li, Bing

    Published 2016
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  20. 20
    Correction: Altered mRNA Splicing, Chondrocyte Gene Expression and Abnormal Skeletal Development due to SF3B4 Mutations in Rodriguez Acrofacial Dysostosis

    Correction: Altered mRNA Splicing, Chondrocyte Gene Expression and Abnormal Skeletal Development due to SF3B4 Mutations in Rodriguez Acrofacial Dysostosis by Marques, Felipe, Tenney, Jessica, Duran, Ivan, Martin, Jorge, Nevarez, Lisette, Pogue, Robert, Krakow, Deborah, Cohn, Daniel H., Li, Bing

    Published 2016
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