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Emily C. Oates

university of new south wales

0H指数
1论文数
0被引数
收录论文 13
发表时间
Developing an open-access knowledge exchange platform for breast surgeons
err2023-05-10
err0
errOAAI
errRobinson, A.; Reveendran, D.; Oates, E.; Shaheen, A.; Bennett, J.; Ng, A.
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Novel ASCC1 mutations causing prenatal-onset muscle weakness with arthrogryposis and congenital bone fractures
err2018-10-16
err27
PREAI
errBohm, Johann; Malfatti, Edoardo; Oates, Emily; Jones, Kristi; Brochier, Guy; Boland, Anne; Deleuze, Jean-Francois; Romero, Norma Beatriz; Laporte, Jocelyn
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Diagnosis and Etiology of Congenital Muscular Dystrophy: We Are Halfway There
err2016-05-25
err59
errOAAI
errO'Grady, Gina L.; Lek, Monkol; Lamande, Shireen R.; Waddell, Leigh; Oates, Emily C.; Punetha, Jaya; Ghaoui, Roula; Sandaradura, Sarah A.; Best, Heather; Kaur, Simranpreet; Davis, Mark; Laing, Nigel G.; Muntoni, Francesco; Hoffman, Eric; MacArthur, Daniel G.; Clarke, Nigel F.; Cooper, Sandra; North, Kathryn
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Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy
errBRAIN
IF11.7
err2015-12-22
err92
errOAAI
errZaharieva, Irina T.; Thor, Michael G.; Oates, Emily C.; van Karnebeek, Clara; Hendson, Glenda; Blom, Eveline; Witting, Nanna; Rasmussen, Magnhild; Gabbett, Michael T.; Ravenscroft, Gianina; Sframeli, Maria; Suetterlin, Karen; Sarkozy, Anna; D'Argenzio, Luigi; Hartley, Louise; Matthews, Emma; Pitt, Matthew; Vissing, John; Ballegaard, Martin; Krarup, Christian; Slordahl, Andreas; Halvorsen, Hanne; Ye, Xin Cynthia; Zhang, Lin-Hua; Lokken, Nicoline; Werlauff, Ulla; Abdelsayed, Mena; Davis, Mark R.; Feng, Lucy; Phadke, Rahul; Sewry, Caroline A.; Morgan, Jennifer E.; Laing, Nigel G.; Vallance, Hilary; Ruben, Peter; Hanna, Michael G.; Lewis, Suzanne; Kamsteeg, Erik-Jan; Maennikkoe, Roope; Muntoni, Francesco
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Reply: The p.Ser107Leu in BICD2 is a mutation 'hot spot' causing distal spinal muscular atrophy
errBRAIN
IF11.7
err2015-06-10
err1
errOAAI
errRossor, Alexander M.; Oates, Emily C.; Salter, Hannah K.; Liu, Yang; Murphy, Sinead M.; Schule, Rebecca; Gonzales, Michael A.; Scoto, Mariacristina; Phadke, Rahul; Sewry, Caroline A.; Houlden, Henry; Jordanova, Albena; Tournev, Iyailo; Chamova, Teodora; Litvinenko, Ivan; Zuchner, Stephan; Herrmann, David N.; Blake, Julian; Sowden, Janet E.; Acsadi, Gyuda; Rodriguez, Michael L.; Menezes, Manoj P.; Clarke, Nigel F.; Grumbach, Michaela Auer; Bullock, Simon L.; Muntoni, Francesco; Reilly, Mary M.; North, Kathryn N.
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Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2由于BICD2突变引起的脊髓性肌萎缩的表型和分子见解
errBRAIN
IF11.7
err2014-12-14
err80
errOAAI
errRossor, Alexander M.; Oates, Emily C.; Salter, Hannah K.; Liu, Yang; Murphy, Sinead M.; Schule, Rebecca; Gonzalez, Michael A.; Scoto, Mariacristina; Phadke, Rahul; Sewry, Caroline A.; Houlden, Henry; Jordanova, Albena; Tournev, Iyailo; Chamova, Teodora; Litvinenko, Ivan; Zuchner, Stephan; Herrmann, David N.; Blake, Julian; Sowden, Janet E.; Acsadi, Gyuda; Rodriguez, Michael L.; Menezes, Manoj P.; Clarke, Nigel F.; Grumbach, Michaela Auer; Bullock, Simon L.; Muntoni, Francesco; Reilly, Mary M.; North, Kathryn N.
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Recessive ACTA1 variant causes congenital muscular dystrophy with rigid spine
err2014-09-03
err16
errOAAI
errO'Grady, Gina L.; Best, Heather A.; Oates, Emily C.; Kaur, Simranpreet; Charlton, Amanda; Brammah, Susan; Punetha, Jaya; Kesari, Akanchha; North, Kathryn N.; Ilkovski, Biljana; Hoffman, Eric P.; Clarke, Nigel F.
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Mutations in BICD2 Cause Dominant Congenital Spinal Muscular Atrophy and Hereditary Spastic Paraplegia
err2013-06-01
err154
errOAAI
errOates, Emily C.; Rossor, Alexander M.; Hafezparast, Majid; Gonzalez, Michael; Speziani, Fiorella; MacArthur, Daniel G.; Lek, Monkol; Cottenie, Ellen; Scoto, Mariacristina; Foley, A. Reghan; Hurles, Matthew; Houlden, Henry; Greensmith, Linda; Auer-Grumbach, Michaela; Pieber, Thomas R.; Strom, Tim M.; Schule, Rebecca; Herrmann, David N.; Sowden, Janet E.; Acsadi, Gyula; Menezes, Manoj P.; Clarke, Nigel F.; Zuechner, Stephan; Muntoni, Francesco; North, Kathryn N.; Reilly, Mary M.
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Autosomal dominant congenital spinal muscular atrophy: a true form of spinal muscular atrophy caused by early loss of anterior horn cells常染色体显性先天性脊髓性肌萎缩症: 由前角细胞早期丢失引起的脊髓性肌萎缩症的真实形式
errBRAIN
IF11.7
err2012-05-23
err22
PREAI
errOates, Emily C.; Reddel, Stephen; Rodriguez, Michael L.; Gandolfo, Luke C.; Bahlo, Melanie; Hawke, Simon H.; Lamande, Shireen R.; Clarke, Nigel F.; North, Kathryn N.
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Genome-Wide Profiling of p63 DNA-Binding Sites Identifies an Element that Regulates Gene Expression during Limb Development in the 7q21 SHFM1 Locus
err2010-08-19
err163
errOAAI
errKouwenhoven, Evelyn N.; van Heeringen, Simon J.; Tena, Juan J.; Oti, Martin; Dutilh, Bas E.; Alonso, M. Eva; de la Calle-Mustienes, Elisa; Smeenk, Leonie; Rinne, Tuula; Parsaulian, Lilian; Bolat, Emine; Jurgelenaite, Rasa; Huynen, Martijn A.; Hoischen, Alexander; Veltman, Joris A.; Brunner, Han G.; Roscioli, Tony; Oates, Emily; Wilson, Meredith; Manzanares, Miguel; Luis Gomez-Skarmeta, Jose; Stunnenberg, Hendrik G.; Lohrum, Marion; van Bokhoven, Hans; Zhou, Huiqing
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