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A molecular and clinical study of Larsen syndrome caused by mutations in FLNB
Bicknell, Louise S, Farrington-Rock, Claire, Shafeghati, Yousef, Rump, Patrick, Alanay, Yasemin, Alembik, Yves, Al-Madani, Navid, Firth, Helen, Karimi-Nejad, Mohammad Hassan, Kim, Chong Ae, Leask, Kathryn, Maisenbacher, Melissa, Moran, Ellen, Pappas, John G, Prontera, Paolo, de Ravel, Thomy, Fryns, Jean-Pierre, Sweeney, Elizabeth, Fryer, Alan, Unger, Sheila, Wilson, L C, Lachman, Ralph S, Rimoin, David L, Cohn, Daniel H, Krakow, Deborah, Robertson, Stephen P
Published in Journal of medical genetics (01.02.2007)
Published in Journal of medical genetics (01.02.2007)
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Journal Article
Integrating EMR-Linked and In Vivo Functional Genetic Data to Identify New Genotype-Phenotype Associations
Mosley, Jonathan D., Van Driest, Sara L., Weeke, Peter E., Delaney, Jessica T., Wells, Quinn S., Bastarache, Lisa, Roden, Dan M., Denny, Josh C.
Published in PloS one (20.06.2014)
Published in PloS one (20.06.2014)
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Journal Article
Homozygosity mapping identifies a GALK1 mutation as the cause of autosomal recessive congenital cataracts in 4 adult siblings
Chacon-Camacho, Oscar F., Buentello-Volante, Beatriz, Velázquez-Montoya, Roberto, Ayala-Ramirez, Raul, Zenteno, Juan C.
Published in Gene (25.01.2014)
Published in Gene (25.01.2014)
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Journal Article
Multidrug resistance protein-6 (MRP6) in human dermal fibroblasts. Comparison between cells from normal subjects and from Pseudoxanthoma elasticum patients
Boraldi, F., Quaglino, D., Croce, M.A., Garcia Fernandez, M.I., Tiozzo, R., Gheduzzi, D., Bacchelli, B., Pasquali Ronchetti, I.
Published in Matrix biology (01.11.2003)
Published in Matrix biology (01.11.2003)
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Journal Article