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1دورية أكاديمية
المؤلفون: Williamson, Kathleen A, Rainger, Joe, Floyd, James AB, Ansari, Morad, Meynert, Alison, Aldridge, Kishan V, Rainger, Jacqueline K, Anderson, Carl A, Moore, Anthony T, Hurles, Matthew E, Clarke, Angus, van Heyningen, Veronica, Verloes, Alain, Taylor, Martin S, Wilkie, Andrew OM, Consortium, UK10K, FitzPatrick, David R
المصدر: American Journal of Human Genetics. 94(2)
مصطلحات موضوعية: Genetics, Brain Disorders, Clinical Research, Biotechnology, Dental/Oral and Craniofacial Disease, 2.1 Biological and endogenous factors, Aetiology, Adaptor Proteins, Signal Transducing, Adolescent, Adult, Aged, Alleles, Animals, Cell Cycle Proteins, Child, Child, Preschool, Codon, Nonsense, Exome, Eye Abnormalities, Female, Heterozygote, Humans, Introns, Male, Mice, Middle Aged, Nonsense Mediated mRNA Decay, Pedigree, Phenotype, Phosphoproteins, Transcription Factors, Transcription Initiation Site, YAP-Signaling Proteins, Young Adult, UK10K Consortium, Biological Sciences, Medical and Health Sciences, Genetics & Heredity
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/2v772101Test
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2دورية أكاديمية
المؤلفون: Reijns, Martin A M, Thompson, Louise, Acosta, Juan Carlos, Black, Holly A, Sanchez-Luque, Francisco J, Diamond, Austin, Parry, David A, Daniels, Alison, O'Shea, Marie, Uggenti, Carolina, Sanchez, Maria C, O'Callaghan, Alan, McNab, Michelle L L, Adamowicz, Martyna, Friman, Elias T, Hurd, Toby, Jarman, Edward J, Chee, Frederic Li Mow, Rainger, Jacqueline K, Walker, Marion, Drake, Camilla, Longman, Dasa, Mordstein, Christine, Warlow, Sophie J, McKay, Stewart, Slater, Louise, Ansari, Morad, Tomlinson, Ian P M, Moore, David, Wilkinson, Nadine, Shepherd, Jill, Templeton, Kate, Johannessen, Ingolfur, Tait-Burkard, Christine, Haas, Jürgen G, Gilbert, Nick, Adams, Ian R, Jackson, Andrew P
مصطلحات موضوعية: COVID-19, COVID-19 Testing, Humans, Multiplex Polymerase Chain Reaction, RNA, Viral, Reverse Transcriptase Polymerase Chain Reaction, SARS-CoV-2
وصف الملف: application/pdf
العلاقة: http://hdl.handle.net/10668/16795Test; PMC7771873; https://journals.plos.org/plosbiology/article/file?id=10.1371/journal.pbio.3001030&type=printableTest; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7771873/pdfTest
الإتاحة: https://doi.org/10.1371/journal.pbio.3001030Test
http://hdl.handle.net/10668/16795Test
https://journals.plos.org/plosbiology/article/file?id=10.1371/journal.pbio.3001030&type=printableTest
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7771873/pdfTest -
3دورية أكاديمية
المؤلفون: Shaw, Natalie D, Brand, Harrison, Kupchinsky, Zachary A, Bengani, Hemant, Plummer, Lacey, Jones, Takako I, Erdin, Serkan, Williamson, Kathleen A, Rainger, Joe, Stortchevoi, Alexei, Samocha, Kaitlin, Currall, Benjamin B, Dunican, Donncha S, Collins, Ryan L, Willer, Jason R, Lek, Angela, Lek, Monkol, Nassan, Malik, Pereira, Shahrin, Kammin, Tammy, Lucente, Diane, Silva, Alexandra, Seabra, Catarina M, Chiang, Colby, An, Yu, Ansari, Morad, Rainger, Jacqueline K, Joss, Shelagh, Smith, Jill Clayton, Lippincott, Margaret F, Singh, Sylvia S, Patel, Nirav, Jing, Jenny W, Law, Jennifer R, Ferraro, Nalton, Verloes, Alain, Rauch, Anita, Steindl, Katharina, Zweier, Markus, Scheer, Ianina, Sato, Daisuke, Okamoto, Nobuhiko, Jacobsen, Christina, Tryggestad, Jeanie, Chernausek, Steven, Schimmenti, Lisa A, Brasseur, Benjamin, Cesaretti, Claudia, García-Ortiz, Jose E, Buitrago, Tatiana Pineda, Silva, Orlando Perez, Hoffman, Jodi D, Mühlbauer, Wolfgang, Ruprecht, Klaus W, Loeys, Bart L, Shino, Masato, Kaindl, Angela M, Cho, Chie-Hee, Morton, Cynthia C, Meehan, Richard R, van Heyningen, Veronica, Liao, Eric C, Balasubramanian, Ravikumar, Hall, Janet E, Seminara, Stephanie B, Macarthur, Daniel, Moore, Steven A, Yoshiura, Koh-Ichiro, Gusella, James F, Marsh, Joseph A, Graham, John M, Lin, Angela E, Katsanis, Nicholas, Jones, Peter L, Crowley, William F, Davis, Erica E, FitzPatrick, David R, Talkowski, Michael E
المصدر: Shaw , N D , Brand , H , Kupchinsky , Z A , Bengani , H , Plummer , L , Jones , T I , Erdin , S , Williamson , K A , Rainger , J , Stortchevoi , A , Samocha , K , Currall , B B , Dunican , D S , Collins , R L , Willer , J R , Lek , A , Lek , M , Nassan , M , Pereira , S , Kammin , T , Lucente , D , Silva , A , Seabra , C ....
مصطلحات موضوعية: Journal Article
وصف الملف: application/vnd.openxmlformats-officedocument.wordprocessingml.document
الإتاحة: https://doi.org/10.1038/ng.3743Test
https://research.manchester.ac.uk/en/publications/dfe83a97-4224-4db7-9ce8-3441769887d9Test
https://pure.manchester.ac.uk/ws/files/53772789/NG_A43728R_Talkowski_MS_090416_revised_accepted_manuscript.docxTest -
4دورية أكاديمية
المؤلفون: Shaw, Natalie D., Brand, Harrison, Kupchinsky, Zachary A., Bengani, Hemant, Plummer, Lacey, Jones, Takako I., Erdin, Serkan, Williamson, Kathleen A., Rainger, Joe, Stortchevoi, Alexei, Samocha, Kaitlin, Curra, Benjamin B., Dunican, Donncha S., Collins, Ryan L., Willer, Jason R., Lek, Angela, Lek, Monkol, Nassan, Malik, Pereira, Shahrin, Kammin, Tammy, Lucente, Diane, Silva, Alexandra, Seabra, Catarina M., Chiang, Colby, Ana, Yu, Ansari, Morad, Rainger, Jacqueline K., Joss, Shelagh, Smith, Jill Clayton, Lippincott, Margaret F., Singh, Sylvia S., Patel, Nirav, Jing, Jenny W., Law, Jennifer R., Ferraro, Nalton, Verloes, Main, Rauch, Anita, Steindl, Katharina, Zweier, Markus, Scheer, Ianina, Sato, Daisuke, Okamoto, Nobuhiko, Jacobsen, Christina, Tryggestad, Jeanie, Chernausek, Steven, Schimmenti, Lisa A., Brasseur, Benjamin, Cesaretti, Claudia, Garcia-Ortiz, Jose E., Pineda Buitrago, Tatiana, Perez Silva, Orlando, Hoffman, Jodi D., Muehlbauer, Wolfgang, Ruprecht, Klaus W., Loeys, Bart, Shino, Masato, Kaind, Angela M., Cho, Chie-Hee, Morton, Cynthia C., Meehan, Richard R., van Heyningen, Veronica, Liao, Eric C., Balasubramanian, Ravikumar, Hall, Janet E., Seminara, Stephanie B., Macarthur, Daniel, Moore, Steven A., Yoshiura, Koh-ichiro, Gusella, James F., Marsh, Joseph A., Graham, John M., Jr., Lin, Angela E., Katsanis, Nicholas, Jones, Peter L., Crowley, William F., Jr., Davis, Erica E., FitzPatrick, David R., Talkowski, Michael E.
المصدر: 1061-4036 ; Nature genetics
مصطلحات موضوعية: Human medicine
وصف الملف: pdf
العلاقة: info:eu-repo/semantics/altIdentifier/isi/000393148600012
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5دورية أكاديمية
المؤلفون: Shaw, Natalie D, Brand, Harrison, Kupchinsky, Zachary A, Bengani, Hemant, Plummer, Lacey, Jones, Takako I, Erdin, Serkan, Williamson, Kathleen A, Rainger, Joe, Stortchevoi, Alexei, Samocha, Kaitlin, Currall, Benjamin B, Dunican, Donncha S, Collins, Ryan L, Willer, Jason R, Lek, Angela, Lek, Monkol, Nassan, Malik, Pereira, Shahrin, Kammin, Tammy, Lucente, Diane, Silva, Alexandra, Seabra, Catarina M, Chiang, Colby, An, Yu, Ansari, Morad, Rainger, Jacqueline K, Joss, Shelagh, Smith, Jill Clayton, Lippincott, Margaret F, Singh, Sylvia S, Patel, Nirav, Jing, Jenny W, Law, Jennifer R, Ferraro, Nalton, Verloes, Alain, Rauch, Anita, Steindl, Katharina, Zweier, Markus, Scheer, Ianina, Sato, Daisuke, Okamoto, Nobuhiko, Jacobsen, Christina, Tryggestad, Jeanie, Chernausek, Steven, Schimmenti, Lisa A, Brasseur, Benjamin, Cesaretti, Claudia, García-Ortiz, Jose E, Buitrago, Tatiana Pineda
المصدر: Nature Genetics ; volume 49, issue 6, page 969-969 ; ISSN 1061-4036 1546-1718
مصطلحات موضوعية: Genetics
الإتاحة: https://doi.org/10.1038/ng0617-969cTest
http://www.nature.com/articles/ng0617-969c.pdfTest
http://www.nature.com/articles/ng0617-969cTest -
6دورية أكاديمية
المؤلفون: McEntagart, Meriel, Williamson, Kathleen A, Rainger, Jacqueline K, Wheeler, Ann, Seawright, Anne, De Baere, Elfride, Verdin, Hannah, Bergendahl, L Therese, Quigley, Alan, Rainger, Joe, Dixit, Abhijit, Sarkar, Ajoy, López Laso, Eduardo, Sanchez-Carpintero, Rocio, Barrio, Jesus, Bitoun, Pierre, Prescott, Trine, Riise, Ruth, McKee, Shane, Cook, Jackie, McKie, Lisa, Ceulemans, Berten, Meire, Françoise, Temple, I Karen, Prieur, Fabienne, Williams, Jonathan, Clouston, Penny, Németh, Andrea H, Banka, Siddharth, Bengani, Hemant, Handley, Mark, Freyer, Elisabeth, Ross, Allyson, van Heyningen, Veronica, Marsh, Joseph A, Elmslie, Frances, FitzPatrick, David R
المصدر: McEntagart , M , Williamson , K A , Rainger , J K , Wheeler , A , Seawright , A , De Baere , E , Verdin , H , Bergendahl , L T , Quigley , A , Rainger , J , Dixit , A , Sarkar , A , López Laso , E , Sanchez-Carpintero , R , Barrio , J , Bitoun , P , Prescott , T , Riise , R , McKee , S , Cook , J , McKie , L , Ceulemans , B , Meire , F , Temple , ....
مصطلحات موضوعية: Journal Article
الإتاحة: https://doi.org/10.1016/j.ajhg.2016.03.018Test
https://research.manchester.ac.uk/en/publications/f43f2919-4379-4676-af7d-91f1bcd99263Test -
7دورية أكاديمية
المؤلفون: Rainger, Joe, Pehlivan, Davut, Johansson, Stefan, Bengani, Hemant, Sanchez-Pulido, Luis, Williamson, Kathleen A., Ture, Mehmet, Barker, Heather, Rosendahl, Karen, Spranger, Jürgen, Horn, Denise, Meynert, Alison, Floyd, James A.B., Prescott, Trine, Anderson, Carl A., Rainger, Jacqueline K., Karaca, Ender, Gonzaga-Jauregui, Claudia, Jhangiani, Shalini, Muzny, Donna M., Seawright, Anne, Soares, Dinesh C., Kharbanda, Mira, Murday, Victoria, Finch, Andrew, Gibbs, Richard A., van Heyningen, Veronica, Taylor, Martin S., Yakut, Tahsin, Knappskog, Per M., Hurles, Matthew E., Ponting, Chris P., Lupski, James R., Houge, Gunnar, FitzPatrick, David R., Hurles, Matthew, Al-Turki, Saeed, Anderson, Carl, Barroso, Inês, Beales, Philip, Bentham, Jamie, Bhattacharya, Shoumo, Carss, Keren, Chatterjee, Krishna, Cirak, Sebhattin, Cosgrove, Catherine, Daly, Allan, Floyd, Jamie, Franklin, Chris
المصدر: The American Journal of Human Genetics ; volume 94, issue 6, page 915-923 ; ISSN 0002-9297
مصطلحات موضوعية: Genetics (clinical), Genetics
الإتاحة: https://doi.org/10.1016/j.ajhg.2014.05.005Test
https://api.elsevier.com/content/article/PII:S0002929714002250?httpAccept=text/plainTest
https://api.elsevier.com/content/article/PII:S0002929714002250?httpAccept=text/xmlTest -
8دورية أكاديمية
المؤلفون: Gerth‐Kahlert, Christina, Williamson, Kathleen, Ansari, Morad, Rainger, Jacqueline K., Hingst, Volker, Zimmermann, Theodor, Tech, Stefani, Guthoff, Rudolf F., van Heyningen, Veronica, FitzPatrick, David R.
المصدر: Molecular Genetics & Genomic Medicine ; volume 1, issue 1, page 15-31 ; ISSN 2324-9269 2324-9269
الإتاحة: https://doi.org/10.1002/mgg3.2Test
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9دورية أكاديمية
المؤلفون: Rainger, Joe, Keighren, Margaret, Keene, Douglas R., Charbonneau, Noe L., Rainger, Jacqueline K., Fisher, Malcolm, Mella, Sebastien, Huang, Jeffrey T-J., Rose, Lorraine, van't Hof, Rob, Sakai, Lynne Y., Jackson, Ian J., FitzPatrick, David R.
المساهمون: Cheah, Kathryn S. E.
المصدر: PLoS Genetics ; volume 9, issue 12, page e1003998 ; ISSN 1553-7404
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10دورية أكاديمية
المؤلفون: Reijns, Martin A. M., Thompson, Louise, Acosta, Juan Carlos, Black, Holly A., Sanchez-Luque, Francisco J., Diamond, Austin, Parry, David A., Daniels, Alison, O'Shea, Marie, Uggenti, Carolina, Sanchez, Maria C., O'Callaghan, Alan, McNab, Michelle L. L., Adamowicz, Martyna, Friman, Elias T., Hurd, Toby, Jarman, Edward J., Chee, Frederic Li Mow, Rainger, Jacqueline K., Walker, Marion
المصدر: PLoS Biology; 12/15/2020, Vol. 18 Issue 12, p1-20, 20p, 3 Charts, 4 Graphs
مصطلحات موضوعية: COVID-19, SARS-CoV-2, PANDEMICS, PERIODONTAL probe, NUCLEIC acids, POLYMERASE chain reaction
النص الكامل