Resultados de procura - Krakow, Deborah

Skeletal Dysplasias por Krakow, Deborah

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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