Søgeresultater for Forfatter

1

Skeletal Dysplasias af Krakow, Deborah

Udgivet 2015

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

Udgivet 2010

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

Udgivet 2009

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

Udgivet 2017

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

Udgivet 2006

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

Udgivet 2009

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

Udgivet 2005

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

Udgivet 2015

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

Udgivet 2019

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

Udgivet 2006

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

Udgivet 2006

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

Udgivet 2008

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

Udgivet 2008

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14

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

Udgivet 2016

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

Udgivet 2007

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

Udgivet 2014

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17

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

Udgivet 2016

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

Udgivet 2003

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

Udgivet 2016

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

Udgivet 2016

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Søgeresultater - Krakow, Deborah

Skeletal Dysplasias af Krakow, Deborah

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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