نتائج البحث - Lisette Nevarez
- يعرض 1 - 9 نتائج من 9
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<i>IFT52</i>mutations destabilize anterograde complex assembly, disrupt ciliogenesis and result in short rib polydactyly syndrome حسب Wenjuan Zhang, S. Paige Taylor, Lisette Nevarez, Ralph S. Lachman, Deborah A. Nickerson, Michael J. Bamshad, Deborah Krakow, Daniel H. Cohn
منشور في 2016Artigo -
2
Altered mRNA Splicing, Chondrocyte Gene Expression and Abnormal Skeletal Development due to SF3B4 Mutations in Rodriguez Acrofacial Dysostosis حسب Felipe Albuquerque Marques, Jessica Tenney, Iván Durán, Jorge Martı́n, Lisette Nevarez, Robert Pogue, Deborah Krakow, Daniel H. Cohn, Bing Li
منشور في 2016Errata/Corrigenda -
3
TREM-2 (triggering receptor expressed on myeloid cells 2) is a phagocytic receptor for bacteria حسب Elsa-Noah N’Diaye, Catherine Branda, Steven S. Branda, Lisette Nevarez, Marco Colonna, Clifford A. Lowell, Jessica A. Hamerman, William E. Seaman
منشور في 2009Artigo -
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5
Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies حسب Wenjuan Zhang, S. Paige Taylor, Hayley A. Ennis, Kimberly N. Forlenza, Iván Durán, Bing Li, Jorge A. Ortiz Sanchez, Lisette Nevarez, Deborah A. Nickerson, Michael J. Bamshad, Ralph S. Lachman, Deborah Krakow, Daniel H. Cohn
منشور في 2017Artigo -
6
Fibrochondrogenesis Results from Mutations in the COL11A1 Type XI Collagen Gene حسب Stuart W. Tompson, Carlos A. Bacino, Nicole P. Safina, Michael B. Bober, Virginia K. Proud, Tara Funari, Michael F. Wangler, Lisette Nevarez, Leena Ala‐Kokko, William R. Wilcox, David R. Eyre, Deborah Krakow, Daniel H. Cohn
منشور في 2010Artigo -
7
Loss of DDRGK1 modulates SOX9 ubiquitination in spondyloepimetaphyseal dysplasia حسب Adetutu T. Egunsola, Yangjin Bae, Ming-Ming Jiang, David S. Liu, Yuqing Chen-Evenson, Terry Bertin, Shan Chen, James T. Lu, Lisette Nevarez, Nurit Magal, Annick Raas‐Rothschild, Eric C. Swindell, Daniel H. Cohn, Richard A. Gibbs, Philippe M. Campeau, Mordechai Shohat, Brendan Lee
منشور في 2017Artigo -
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<i>WNT1</i> Mutations in Early-Onset Osteoporosis and Osteogenesis Imperfecta حسب Christine Lainé, Kyu Sang Joeng, Philippe M. Campeau, Riku Kiviranta, Kati Tarkkonen, Monica Grover, James T. Lu, Minna Pekkinen, Maija Wessman, Terhi J. Heino, Vappu Nieminen-Pihala, Mira Aronen, Tero Laine, Heikki Kröger, William G. Cole, Anna‐Elina Lehesjoki, Lisette Nevarez, Deborah Krakow, Cynthia J. Curry, Daniel H. Cohn, Richard A. Gibbs, Brendan Lee, Outi Mäkitie
منشور في 2013Artigo -
9
Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification حسب Sandy Hsu, Renee Sears, Roberta R. Lemos, Beatriz Quintáns, Alden Huang, Elizabeth Spiteri, Lisette Nevarez, Catherine Mamah, Mayana Zatz, Kerrie D. Pierce, Janice M. Fullerton, John C. Adair, Jon Berner, Matthew Bower, Henry Brodaty, Olga Carmona, Valerija Dobričić, Brent L. Fogel, Daniel García-Estevez, Jill Goldman, John L. Goudreau, Suellen Hopfer, Milena Janković, Serge Jaumà, Joanna C. Jen, Suppachok Kirdlarp, Joerg Klepper, Vladimir Kostić, Anthony E. Lang, Agnès Linglart, Melissa K. Maisenbacher, Bala V. Manyam, Pietro Mazzoni, Z Miedzybrodzka, Witoon Mitarnun, Philip B. Mitchell, Jennifer M. Mueller, Ivana Novaković, Martin Paucar, Henry L. Paulson, Sheila A Simpson, Per Svenningsson, Paul Tuite, Jerrold L. Vitek, Suppachok Wetchaphanphesat, Charles A. Williams, Michele Yang, Peter R. Schofield, João Ricardo Mendes de Oliveira, María-Jesús Sobrido, Daniel H. Geschwind, Giovanni Coppola
منشور في 2013Artigo
أدوات البحث:
موضوعات ذات صلة
Biology
Gene
Genetics
Cell biology
Phenotype
Medicine
Missense mutation
Mutation
Anatomy
Ciliopathies
Genetic heterogeneity
Internal medicine
Mutant
Osteogenesis imperfecta
Pathology
Allele
Allelic heterogeneity
Biochemistry
Chondrocyte
Chondrogenesis
Ciliogenesis
Ciliopathy
Cilium
Compound heterozygosity
Computational biology
Congenital disease
Disease
Dysostosis
Evolutionary biology
Exon