المؤلفون: Wallmeier, J, Frank, D, Shoemark, A, Nöthe-Menchen, T, Cindric, S, Olbrich, H, Loges, NT, Aprea, I, Dougherty, GW, Pennekamp, P, Kaiser, T, Mitchison, HM, Hogg, C, Carr, SB, Zariwala, MA, Ferkol, T, Leigh, MW, Davis, SD, Atkinson, J, Dutcher, SK, Knowles, MR, Thiele, H, Altmüller, J, Krenz, H, Wöste, M, Brentrup, A, Ahrens, F, Vogelberg, C, Morris-Rosendahl, DJ, Omran, H

المصدر: American Journal of Human Genetics , 105 (5) pp. 1030-1039. (2019)

مصطلحات موضوعية: FOXJ1, cilia, ciliogenesis, ependyma, hydrocephalus, lung disease

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10085532/5/Mitchison_De%20Novo%20Mutations%20in%20FOXJ1%20Result_AAM.pdf; https://discovery.ucl.ac.uk/id/eprint/10085532/11/Mitchison_De%20Novo%20Mutations%20in%20FOXJ1%20Result_SuppM.pdf; https://discovery.ucl.ac.uk/id/eprint/10085532/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10085532/5/Mitchison_De%20Novo%20Mutations%20in%20FOXJ1%20Result_AAM.pdf
https://discovery.ucl.ac.uk/id/eprint/10085532/11/Mitchison_De%20Novo%20Mutations%20in%20FOXJ1%20Result_SuppM.pdf
https://discovery.ucl.ac.uk/id/eprint/10085532/

المؤلفون: Van Dam, TJP, Kennedy, J, Van der Lee, R, De Vrieze, E, Wunderlich, KA, Rix, S, Dougherty, GW, Lambacher, NJ, Li, C, Jensen, VL, Leroux, MR, Hjeij, R, Horn, N, Texier, Y, Wissinger, Y, Van Reeuwijk, J, Wheway, G, Knapp, B, Scheel, JF, Franco, B, Mans, DA, Van Wijk, E, Képès, F, Slaats, GG, Toedt, G, Kremer, H, Omran, H, Szymanska, K, Koutroumpas, K, Ueffing, M, Nguyen, T-MT, Letteboer, SJF, Oud, MM, Van Beersum, SEC, Schmidts, M, Beales, PL, Lu, Q, Giles, RH, Szklarczyk, R, Russell, RB, Gibson, TJ, Johnson, CA, Blacque, OE, Wolfrum, U, Boldt, K, Roepman, R, Hernandez-Hernandez, V, Huynen, MA

المصدر: PLOS ONE , 14 (5) , Article e0216705. (2019)

مصطلحات موضوعية: Cilia, Zebrafish, Caenorhabditis elegans, Embryos, Photoreceptors, Stable isotope labeling by amino acids in cell culture, Proteomic databases, Morpholino

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10075776/1/journal.pone.0216705.pdf; https://discovery.ucl.ac.uk/id/eprint/10075776/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10075776/1/journal.pone.0216705.pdf
https://discovery.ucl.ac.uk/id/eprint/10075776/

المؤلفون: Onoufriadis, A, Hjeij, R, Watson, CM, Slagle, CE, Klena, NT, Dougherty, GW, Kurkowiak, M, Loges, NT, Diggle, CP, Morante, NF, Gabriel, GC, Lemke, KL, Li, Y, Pennekamp, P, Menchen, T, Marthin, JK, Mans, D, Letteboer, SJ, Werner, C, Burgoyne, T, Westermann, C, Rutman, A, Carr, IM, O'Callaghan, C, Moya, E, Chung, EMK, Sheridan, E, Nielsen, KG, Roepman, R, Burdine, RD, Lo, CW, Omran, H, Mitchison, H

المصدر: Cilia ; volume 4, issue S1 ; ISSN 2046-2530

الاتاحة: http://dx.doi.org/10.1186/2046-2530-4-s1-p30
https://link.springer.com/content/pdf/10.1186/2046-2530-4-S1-P30.pdf

المؤلفون: Hjeij, R, Onoufriadis, A, Watson, CM, Slagle, CE, Klena, NT, Dougherty, GW, Kurkowiak, M, Loges, NT, Diggle, CP, Morante, NF, Gabriel, GC, Lemke, KL, Li, Y, Pennekamp, P, Menchen, T, Konert, F, Marthin, JK, Mans, DA, Letteboer, SJ, Werner, C, Burgoyne, T, Westermann, C, Rutman, A, Carr, IM, O'Callaghan, C, Moya, E, Chung, EM, UK10K Consortium, ., Sheridan, E, Nielsen, KG, Roepman, R, Bartscherer, K, Burdine, RD, Lo, CW, Omran, H, Mitchison, HM

المصدر: Am J Hum Genet , 95 (3) 257 - 274. (2014)

مصطلحات موضوعية: Animals, Axonemal Dyneins, Axoneme, Cells, Cultured, Cilia, Embryo, Mammalian, Exome, Female, Fluorescent Antibody Technique, Humans, Immunoblotting, Immunoprecipitation, In Situ Hybridization, Kartagener Syndrome, Male, Mice, Knockout, Microtubule-Associated Proteins, Mutation, Pedigree, Phenotype, Two-Hybrid System Techniques, Zebrafish

وصف الملف: application/pdf

Relation: https://discovery.ucl.ac.uk/id/eprint/1447297/1/1-s2.0-S0002929714003498-main.pdf; https://discovery.ucl.ac.uk/id/eprint/1447297/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/1447297/1/1-s2.0-S0002929714003498-main.pdf
https://discovery.ucl.ac.uk/id/eprint/1447297/

المؤلفون: van Dam, MA, Kennedy, J, van der Lee, R, de Vrieze, E, Wunderlich, KA, Rix, S, Dougherty, GW, Lambacher, NJ, Li, C, Jensen, VL, Leroux, MR, Hjeij, R, Horn, N, Texier, Y, Wissinger, Y, van Reeuwijk, J, Wheway, G, Knapp, B, Scheel, JF, Franco, B, Mans, D, van Wijk, E, Képès, F, Slaats, GG, Toedt, G, Kremer, H, Omran, H, Szymanska, K, Koutroumpas, K, Ueffing, M, Nguyen, TMT, Letteboer, SJF, Oud, MM, van Beersum, SEC, Schmidts, M, Beales, PL, Lu, Q, Giles, RH, Szklarczyk, R, Russell, RB, Gibson, TJ, Johnson, CA, Blacque, OE, Wolfrum, U, Boldt, K, Roepman, R, Hernandez-Hernandez, V, Huynen, MA

مصطلحات موضوعية: cilia, zebrafish, Caenorhabditis elegans, embryos, photoreceptors, Stable isotope labeling by amino acids in cell culture, proteomic databases, Morpholino

وصف الملف: 1 - 32

Relation: PLOS ONE; PLOS ONE, 2019, 14(5: e0216705): 1 - 32; https://bura.brunel.ac.uk/handle/2438/18495; https://doi.org/10.1371/journal.pone.0216705

الاتاحة: https://bura.brunel.ac.uk/handle/2438/18495
https://doi.org/10.1371/journal.pone.0216705

المؤلفون: Alfieri M., Iaconis D., Tammaro R., Perone L., Cali G., Nitsch L., Dougherty G. W., Ragnini A., Franco B.

المساهمون: Alfieri, M, Iaconis, D, Tammaro, R, Perone, L, Cali, G, Nitsch, L, Dougherty, Gw, Ragnini, A, Franco, B

مصطلحات موضوعية: Cell cycle, Cell division, Centrosome, Cilia, Cytoskeleton, OFD1, Settore BIO/10 - BIOCHIMICA

Relation: info:eu-repo/semantics/altIdentifier/pmid/32473706; info:eu-repo/semantics/altIdentifier/wos/WOS:000536023100010; volume:64; firstpage:101369; journal:TISSUE & CELL; http://hdl.handle.net/2108/249130; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85083507305

الاتاحة: http://hdl.handle.net/2108/249130
https://doi.org/10.1016/j.tice.2020.101369