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1دورية
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2دورية أكاديمية
المؤلفون: Ramsbottom, Simon A., Thelwall, Peter E., Wood, Katrina M., Clowry, Gavin J., Devlin, Laura A., Silbermann, Flora, Spiewak, Helena L., Shril, Shirlee, Molinari, Elisa, Hildebrandt, Friedhelm, Gunay-Aygun, Meral, Saunier, Sophie, Cordell, Heather J., Sayer, John A., Miles, Colin G.
المصدر: Proceedings of the National Academy of Sciences of the United States of America, 2020 Jan . 117(2), 1113-1118.
الوصول الحر: https://www.jstor.org/stable/26896986Test
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3دورية أكاديمية
المؤلفون: Devlin, Laura A., Coles, Janice, Jackson, Claire L., Barroso-Gil, Miguel, Green, Ben, Walker, Woolf T., Thomas, N. Simon, Thompson, James, Rock, Simon A., Neatu, Ruxandra, Powell, Laura, Molinari, Elisa, Wilson, Ian, Cordell, Heather J., Olinger, Eric, Miles, Colin, Sayer, John, Wheway, Gabrielle, Lucas, Jane
وصف الملف: text
العلاقة: https://eprints.soton.ac.uk/473740/1/Clinical_Genetics_2022_Devlin_Biallelic_variants_in_CEP164_cause_a_motile_ciliopathy_like_syndrome.pdfTest; Devlin, Laura A., Coles, Janice, Jackson, Claire L., Barroso-Gil, Miguel, Green, Ben, Walker, Woolf T., Thomas, N. Simon, Thompson, James, Rock, Simon A., Neatu, Ruxandra, Powell, Laura, Molinari, Elisa, Wilson, Ian, Cordell, Heather J., Olinger, Eric, Miles, Colin, Sayer, John, Wheway, Gabrielle and Lucas, Jane (2022) Biallelic variants in CEP164 cause a motile ciliopathy-like syndrome. Clinical Genetics. (doi:10.1111/cge.14251 ).
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4دورية أكاديميةProgressive liver, kidney, and heart degeneration in children and adults affected by TULP3 mutations
المؤلفون: Devane, John, Ott, Elisabeth, Olinger, Eric G., Epting, Daniel, Decker, Eva, Friedrich, Anja, Bachmann, Nadine, Renschler, Gina, Eisenberger, Tobias, Briem-Richter, Andrea, Grabhorn, Enke Freya, Powell, Laura, Wilson, Ian J., Rice, Sarah J., Miles, Colin G., Wood, Katrina, Trivedi, Palak, Hirschfield, Gideon, Pietrobattista, Andrea, Wohler, Elizabeth, Mezina, Anya, Sobreira, Nara, Agolini, Emanuele, Maggiore, Giuseppe, Dahmer-Heath, Mareike, Yilmaz, Ali, Boerries, Melanie, Metzger, Patrick, Schell, Christoph, Grünewald, Inga, Konrad, Martin, König, Jens, Schlevogt, Bernhard, Sayer, John A., Bergmann, Carsten
المصدر: The American Journal of Human Genetics ; volume 109, issue 5, page 928-943 ; ISSN 0002-9297
مصطلحات موضوعية: Genetics (clinical), Genetics
الإتاحة: https://doi.org/10.1016/j.ajhg.2022.03.015Test
https://api.elsevier.com/content/article/PII:S0002929722001112?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0002929722001112?httpAccept=text/plainTest -
5دورية أكاديمية
المؤلفون: Ramsbottom, Simon A., Molinari, Elisa, Srivastava, Shalabh, Silberman, Flora, Henry, Charline, Alkanderi, Sumaya, Devlin, Laura A., White, Kathryn, Steel, David H., Saunier, Sophie, Miles, Colin G., Sayer, John A.
المصدر: Proceedings of the National Academy of Sciences of the United States of America, 2018 Dec 01. 115(49), 12489-12494.
الوصول الحر: https://www.jstor.org/stable/26573688Test
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6دورية أكاديمية
المؤلفون: Hayman, Dan J., Modebadze, Tamara, Charlton, Sarah, Cheung, Kat, Soul, Jamie, Lin, Hua, Hao, Yao, Miles, Colin G., Tsompani, Dimitra, Jackson, Robert M., Briggs, Michael D., Piróg, Katarzyna A., Clark, Ian M., Barter, Matt J., Clowry, Gavin J., Lebeau, Fiona E. N., Young, David A.
وصف الملف: application/pdf
العلاقة: https://ueaeprints.uea.ac.uk/id/eprint/80121/1/Published_Version.pdfTest; Hayman, Dan J., Modebadze, Tamara, Charlton, Sarah, Cheung, Kat, Soul, Jamie, Lin, Hua, Hao, Yao, Miles, Colin G., Tsompani, Dimitra, Jackson, Robert M., Briggs, Michael D., Piróg, Katarzyna A., Clark, Ian M., Barter, Matt J., Clowry, Gavin J., Lebeau, Fiona E. N. and Young, David A. (2021) Increased hippocampal excitability in miR-324-null mice. Scientific Reports, 11. ISSN 2045-2322
الإتاحة: https://doi.org/10.1038/s41598-021-89874-1Test
https://ueaeprints.uea.ac.uk/id/eprint/80121Test/
https://ueaeprints.uea.ac.uk/id/eprint/80121/1/Published_Version.pdfTest -
7دورية أكاديمية
المؤلفون: Barroso‐Gil, Miguel, Olinger, Eric, Ramsbottom, Simon A., Molinari, Elisa, Miles, Colin G., Sayer, John A.
المساهمون: Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung, Kidney Research UK, Northern Counties Kidney Research Fund
المصدر: Molecular Genetics & Genomic Medicine ; volume 9, issue 12 ; ISSN 2324-9269 2324-9269
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8دورية أكاديمية
المؤلفون: Woods, Steven, Charlton, Sarah, Cheung, Kat, Hao, Yao, Soul, Jamie, Reynard, Louise N, Crowe, Natalie, Swingler, Tracey E, Skelton, Andrew J, Piróg, Katarzyna A, Miles, Colin G, Tsompani, Dimitra, Jackson, Robert M, Dalmay, Tamas, Clark, Ian M, Barter, Matt J, Young, David A
المصدر: Woods , S , Charlton , S , Cheung , K , Hao , Y , Soul , J , Reynard , L N , Crowe , N , Swingler , T E , Skelton , A J , Piróg , K A , Miles , C G , Tsompani , D , Jackson , R M , Dalmay , T , Clark , I M , Barter , M J & Young , D A 2020 , ' microRNA-seq of cartilage reveals an over-abundance of miR-140-3p which contains functional isomiRs ' , RNA (New York, N.Y.) . https://doi.org/10.1261/rna.075176.120Test
الإتاحة: https://doi.org/10.1261/rna.075176.120Test
https://research.manchester.ac.uk/en/publications/25abf5c9-f846-4858-b0ae-09f5d2f6babbTest -
9دورية أكاديمية
المؤلفون: Patek, Charles E., Little, Melissa H., Fleming, Stewart, Miles, Colin, Charlieu, Jean-Paul, Clarke, Alan R., Miyagawa, Kiyoshi, Christie, Sheila, Doig, Jennifer, Harrison, David J., Porteous, David J., Brookes, Anthony J., Hooper, Martin L., Hastie, Nicholas D.
المصدر: Proceedings of the National Academy of Sciences of the United States of America, 1999 Mar . 96(6), 2931-2936.
الوصول الحر: https://www.jstor.org/stable/47466Test
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10دورية أكاديمية
المؤلفون: Miles, Colin, Elgar, Greg, Coles, Edward, Kleinjan, Dirk-Jan, Van Heyningen, Veronica, Hastie, Nicholas
المصدر: Proceedings of the National Academy of Sciences of the United States of America, 1998 Oct . 95(22), 13068-13072.
الوصول الحر: https://www.jstor.org/stable/46196Test