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
Published in American journal of human genetics (01.04.2009)
Published in American journal of human genetics (01.04.2009)
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Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis
KRAKOW, Deborah, ROBERTSON, Stephen P, AFTIMOS, Salim, CHONG AE KIM, FIRTH, Helen, STEINER, Carlos E, CORMIER-DAIRE, Valerie, SUPERTI-FURGA, Andrea, BONAFE, Luisa, GRAHAM, John M, GRIX, Arthur, BACINO, Carlos A, KING, Lily M, ALLANSON, Judith, BIALER, Martin G, LACHMAN, Ralph S, RIMOIN, David L, COHN, Daniel H, MORGAN, Timothy, SEBALD, Eiman T, BERTOLOTTO, Cristina, WACHSMANN-HOGIU, Sebastian, ACUNA, Dora, SHAPIRO, Sandor S, TAKAFUTA, Toshiro
Published in Nature genetics (01.04.2004)
Published in Nature genetics (01.04.2004)
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Analysis of clones from a human cartilage cDNA library provides insight into chondrocyte gene expression and identifies novel candidate genes for the osteochondrodysplasias
Krakow, Deborah, Sebald, Eiman T, Pogue, Robert, Rimoin, Lauren P, King, Lily, Cohn, Daniel H
Published in Molecular genetics and metabolism (01.05.2003)
Published in Molecular genetics and metabolism (01.05.2003)
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Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis
Graham, John M, Krakow, Deborah, Bertolotto, Cristina, Morgan, Timothy, King, Lily M, Bonafe, Luisa, Kim, Chong Ae, Bacino, Carlos A, Steiner, Carlos E, Takafuta, Toshiro, Firth, Helen, Bialer, Martin G, Rimoin, David L, Cohn, Daniel H, Wachsmann-Hogiu, Sebastian, Acuna, Dora, Cormier-Daire, Valerie, Aftimos, Salim, Superti-Furga, Andrea, Lachman, Ralph S, Robertson, Stephen P, Allanson, Judith, Shapiro, Sandor S, Grix, Arthur, Sebald, Eiman T
Published in Nature genetics (01.04.2004)
Published in Nature genetics (01.04.2004)
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