نتائج البحث - "McMullan, Dominic J."

العلاقة: https://eprints.soton.ac.uk/429600/1/Prenatal_exome_sequencing.pdfTest; Lord, Jenny, McMullan, Dominic J. and Eberhardt, Ruth Y. , et al. and Prenatal Assessment of Genomes and Exomes Consortium (2019) Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study. The Lancet, 393 (10173), 747-757. (doi:10.1016/S0140-6736(18)31940-8 ).

الإتاحة: https://doi.org/10.1016/S0140-6736Test(18)31940-8
https://eprints.soton.ac.uk/429600Test/
https://eprints.soton.ac.uk/429600/1/Prenatal_exome_sequencing.pdfTest

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4

دورية أكاديمية

Molecular autopsy by trio exome sequencing (ES) and postmortem examination in fetuses and neonates with prenatally identified structural anomalies.

المؤلفون: Quinlan-Jones, Elizabeth, Lord, Jenny, Williams, Denise, Hamilton, Sue, Marton, Tamas, Eberhardt, Ruth Y, Rinck, Gabriele, Prigmore, Elena, Keelagher, Rebecca, McMullan, Dominic J, Maher, Eamonn R, Hurles, Matthew E, Kilby, Mark D

مصطلحات موضوعية: autopsy, exome sequencing, fetuses, genetic diagnosis, neonates, Cohort Studies, Congenital Abnormalities, Exome, Female, Fetal Diseases, Fetus, Humans, Infant, Newborn, Male, Pregnancy, Prenatal Diagnosis

وصف الملف: Print-Electronic; application/pdf

العلاقة: https://www.repository.cam.ac.uk/handle/1810/285467Test

الإتاحة: https://doi.org/10.17863/CAM.32825Test
https://www.repository.cam.ac.uk/handle/1810/285467Test

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5

دورية أكاديمية

Structural Aberrations with Secondary Implications (SASIs): consensus recommendations for reporting of cancer susceptibility genes identified during analysis of Copy Number Variants (CNVs)

المؤلفون: Talukdar, Sabrina, Hawkes, Lara, Hanson, Helen, Kulkarni, Anjana, Brady, Angela F, McMullan, Dominic J, Ahn, Joo Wook, Woodward, Emma, Turnbull, Clare, on behalf of UK Association for Clinical Genomic Science and UK Cancer Genetics Group

مصطلحات موضوعية: Cancer genetics

وصف الملف: text/html

العلاقة: http://jmg.bmj.com/cgi/content/short/56/11/718Test; http://dx.doi.org/10.1136/jmedgenet-2018-105820Test

الإتاحة: https://doi.org/10.1136/jmedgenet-2018-105820Test
http://jmg.bmj.com/cgi/content/short/56/11/718Test

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6

دورية أكاديمية

Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data

المؤلفون: Hardcastle, Amy, Berry, Aliska M, Campbell, Ian M, Zhao, Xiaonan, Liu, Pengfei, Gerard, Amanda E, Rosenfeld, Jill A, Sisoudiya, Saumya D, Hernandez-Garcia, Andres, Loddo, Sara, Di Tommaso, Silvia, Novelli, Antonio, Dentici, Maria L, Capolino, Rossella, Digilio, Maria C, Graziani, Ludovico, Rustad, Cecilie F, Neas, Katherine, Ferrero, Giovanni B, Brusco, Alfredo, Di Gregorio, Eleonora, Wellesley, Diana, Beneteau, Claire, Joubert, Madeleine, Van Den Bogaert, Kris, Boogaerts, Anneleen, McMullan, Dominic J, Dean, John, Giuffrida, Maria G, Bernardini, Laura, Varghese, Vinod, Shannon, Nora L, Harrison, Rachel E, Lam, Wayne W K, McKee, Shane, Turnpenny, Peter D, Cole, Trevor, Morton, Jenny, Eason, Jacqueline, Jones, Marilyn C, Hall, Rebecca, Wright, Michael, Horridge, Karen, Shaw, Chad A, Chung, Wendy K, Scott, Daryl A

المساهمون: Hardcastle, Amy, Berry, Aliska M, Campbell, Ian M, Zhao, Xiaonan, Liu, Pengfei, Gerard, Amanda E, Rosenfeld, Jill A, Sisoudiya, Saumya D, Hernandez-Garcia, Andre, Loddo, Sara, Di Tommaso, Silvia, Novelli, Antonio, Dentici, Maria L, Capolino, Rossella, Digilio, Maria C, Graziani, Ludovico, Rustad, Cecilie F, Neas, Katherine, Ferrero, Giovanni B, Brusco, Alfredo, Di Gregorio, Eleonora, Wellesley, Diana, Beneteau, Claire, Joubert, Madeleine, Van Den Bogaert, Kri, Boogaerts, Anneleen, McMullan, Dominic J, Dean, John, Giuffrida, Maria G, Bernardini, Laura, Varghese, Vinod, Shannon, Nora L, Harrison, Rachel E, Lam, Wayne W K, McKee, Shane, Turnpenny, Peter D, Cole, Trevor, Morton, Jenny, Eason, Jacqueline, Jones, Marilyn C, Hall, Rebecca, Wright, Michael, Horridge, Karen, Shaw, Chad A, Chung, Wendy K, Scott, Daryl A

مصطلحات موضوعية: CREBBP, DECIPHER database, SMARCA4, UBA2, USP9X, congenital diaphragmatic hernia

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35904974; info:eu-repo/semantics/altIdentifier/wos/WOS:000832610600001; volume:188; issue:10; firstpage:2958; lastpage:2968; numberofpages:11; journal:AMERICAN JOURNAL OF MEDICAL GENETICS. PART A; https://hdl.handle.net/2318/1884426Test

الإتاحة: https://doi.org/10.1002/ajmg.a.62919Test
https://hdl.handle.net/2318/1884426Test

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7

دورية أكاديمية

Prevalence and architecture of de novo mutations in developmental disorders

المؤلفون: McRae, Jeremy, Clayton, Stephen, Fitzgerald, Tomas W., Kaplanis, Joanna, Prigmore, Elena, Rajan, Diana, Sifrim, Alejandro, Aitken, Stuart, Akawi, Nadia, Alvi, Mohsan, Ambridge, Kirsty, Barrett, Daniel M., Bayzetinova, Tanya, Jones, Philip, Jones, Wendy D, King, Daniel, Krishnappa, Netravathi, Mason, Laura, Singh, Tarjinder, Tivey, Adrian, Ahmed, Munaza, Anjum, Uruj, Archer, Hayley, Armstrong, Ruth, Awada, Jana, Balasubramanian, Meena, Banka, Siddharth, Baralle, Diana, Barnicoat, Angela J, Batstone, Paul, Baty, David, Bennett, Chris, Berg, Jonathan, Bernhard, Birgitta, Bevan, A. Paul, Bitner-Glindzicz, Maria A.K., Blair, Edward, Blyth, Moira, Bohanna, David, Bourdon, Louise, Bourn, David, Bradley, Lisa, Brady, Angela, Brent, Simon, Brewer, Carole, Brunstrom, Kate, Bunyan, David J, Burn, John, Canham, Natalie, Castle, Bruce, Chandler, Kate, Chatzimichali, EA, Cilliers, Deirdre, Clarke, Angus, Clasper, Susan, Clayton-Smith, Jill, Clowes, Virginia, Coates, A., Cole, Trevor, Colgiu, Irina-Gabriela, Collins, Amanda, Collinson, Morag N., Connell, Fiona C., Cooper, Nicola, Cox, Helen, Cresswell, Lara, Cross, Gareth, Crow, Yanick, D'Alessandro, Mariella, Dabir, Tabib, Davidson, Rosemarie, Davies, Sally, de Vries, Dylan, Dean, John, Deshpande, Charulata, Devlin, Gemma, Dixit, Abhijit, Dobbie, Angus, Donaldson, Alan, Donnai, Dian, Donnelly, Deirdre, Donnelly, C., Douglas, Angela, Douzgou, Sofia, Duncan, Alexis, Eason, Jacqueline, Ellard, Sian, Ellis, Ian, Elmslie, Frances, Evans, Karenza, Everest, Sarah, Fendick, Tina, Fisher, Richard, Flinter, Frances, Foulds, Nicola, Fry, Andrew E., Fryer, Alan, Gardiner, Carol, Gaunt, Lorraine, Ghali, Neeti, Gibbons, Richard, Gill, Harinder, Goodship, Judith, Goudie, David R., Gray, Emma, Green, Andrew, Greene, Philip, Greenhalgh, Lynn, Gribble, Susan, Harrison, Rachel, Harrison, Lucy, Harrison, Victoria, Hawkins, Rose, He, Liu, Hellens, Stephen, Henderson, Alex, Hewitt, Sarah, Hildyard, Lucy, Hobson, Emma, Holden, Simon, Holder, Muriel, Holder, Susan, Hollingsworth, Georgina, Homfray, Tessa, Humphreys, Mervyn, Hurst, Jane, Hutton, Ben, Ingram, Stuart, Irving, Melita, Jackson, Andrew, Jarvis, Joanna, Jenkins, Lucy, Johnson, Diana, Jones, Elizabeth, Josifova, Dragana, Joss, Shelagh, Kaemba, Beckie, Kazembe, Sandra, Kelsell, Rosemary, Kerr, Bronwyn, Kingston, Helen, Kini, Usha, Kinning, Esther, Kirby, Gail, Kirk, Claire, Kivuva, Emma, Kraus, Alison, Kumar, Dhavendra, Kumar, V. K. Ajith, Lachlan, Katherine, Lam, Wayne, Lampe, Anne K., Langman, Caroline, Lees, Melissa, Lim, Derek, Longman, Cheryl, Lowther, Gordon, Lynch, Sally A., Magee, Alex, Maher, Eddy, Male, Alison, Mansour, Sahar, Marks, Karen, Martin, Katherine, Maye, Una, McConnell, Vivienne, McEntagart, Meriel, McKay, Kirsten, McGowan, Ruth, Mckee, Shane, McMullan, Dominic J., McNerlan, Susan, McWilliam, Catherine, Mehta, Sarju, Metcalfe, Kay, Middleton, Anna, Miedzybrodzka, Zosia, Miles, Emma K, Mohammed, Shehla, Montgomery, Tara, Moore, David, Morgan, Sian, Morton, Jenny E., Mugalaasi, Hood, Murday, Victoria, Murphy, Helen, Naik, Swati, Nemeth, Andrea M., Nevitt, Louise, Newbury-Ecob, Ruth, Norman, Andrew, O’Shea, Rosie, Ogilvie, Caroline, Ong, Kai-ren, Park, Soo Mi, Parker, Michael J., Patel, Chirag, Paterson, Joan, Payne, Stewart J., Perrett, Daniel, Phipps, Julie, Pilz, Daniela T, Pollard, Martin, Pottinger, Caroline, Poulton, Joanna, Pratt, Norman, Prescott, Katrina, Price, Sue, Pridham, Abigail, Procter, Annie M., Purnell, Hellen, Quarrell, Oliver, Ragge, Nicola, Rahbari, Raheleh, Randall, Joshua, Rankin, Julia, Raymond, F. Lucy, Rice, Debbie, Robert, Leema, Roberts, Eileen, Roberts, Jonathan, Roberts, Paul, Roberts, Gillian, Ross, Alison, Rosser, Elisabeth, Saggar, Anand K, Samant, Shalaka, Sampson, Julian, Sandford, Richard, Sarkar, Ajoy, Schweiger, Susann, Scott, Richard, Scurr, Ingrid, Selby, Anna, Seller, A., Sequeira, Cheryl, Shannon, Nora, Sharif, Saba, Shaw-Smith, Charles, Shearing, Emma, Shears, Debbie, Sheridan, Eamonn, Simonic, Ingrid, Singzon, Roldan, Skitt, Zara, Smith, Audrey, Smith, Kath, Smithson, Sarah, Sneddon, Linda, Splitt, Miranda, Squires, M., Stewart, Fiona, Stewart, Helen, Straub, Volker, Suri, Mohnish, Sutton, Vivienne, Swaminathan, Ganesh Jawahar, Sweeney, Elizabeth, Tatton-Brown, Kate, Taylor, Cat, Taylor, Rohan, Tein, Mark, Temple, I. Karen, Thomson, Jenny, Tischkowitz, Marc, Tomkins, Susan, Torokwa, Audrey, Treacy, Becky, Turner, Claire, Turnpenny, Peter, Tysoe, Carolyn, Vandersteen, Anthony, Varghese, Vinod, Vasudevan, Pradeep, Vijayarangakannan, Parthiban, Vogt, Julie, Wakeling, Emma, Wallwark, Sarah, Waters, Jonathon, Weber, Astrid, Wellesley, Diana, Whiteford, Margo, Widaa, Sara, Wilcox, Sarah, Wilkinson, Emily, Williams, Denise, Williams, Nicola, Wilson, Louise, Woods, Geoff, Wragg, Christopher, Wright, Michael, Yates, Laura, Yau, Michael, Nellåker, Chris, Parker, Michael, Firth, Helen V., Wright, Caroline F., FitzPatrickd, David R., Barrett, Jeffrey C., Hurles, Matthew E.

المصدر: Deciphering Developmental Disorders Study , McRae , J , Clayton , S , Fitzgerald , T W , Kaplanis , J , Prigmore , E , Rajan , D , Sifrim , A , Aitken , S , Akawi , N , Alvi , M , Ambridge , K , Barrett , D M , Bayzetinova , T , Jones , P , Jones , W D , King , D , Krishnappa , N , Mason , L , Singh , T , Tivey , A , Ahmed , M , Anjum , U , Archer , H ....

وصف الملف: application/vnd.openxmlformats-officedocument.wordprocessingml.document

العلاقة: https://research.manchester.ac.uk/en/publications/9be42f5d-179b-433e-92cf-5fb5d226320cTest

الإتاحة: https://doi.org/10.1038/nature21062Test
https://research.manchester.ac.uk/en/publications/9be42f5d-179b-433e-92cf-5fb5d226320cTest
https://pure.manchester.ac.uk/ws/files/53635516/53635498.ddd_4k.manuscript.ver13.docxTest
https://europepmc.org/articles/PMC6016744Test

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