Búsqueda | Biblioteca Virtual en Salud Odontología. Uruguay

1.

Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants.

Bournazos, Adam M; Riley, Lisa G; Bommireddipalli, Shobhana; Ades, Lesley; Akesson, Lauren S; Al-Shinnag, Mohammad; Alexander, Stephen I; Archibald, Alison D; Balasubramaniam, Shanti; Berman, Yemima; Beshay, Victoria; Boggs, Kirsten; Bojadzieva, Jasmina; Brown, Natasha J; Bryen, Samantha J; Buckley, Michael F; Chong, Belinda; Davis, Mark R; Dawes, Ruebena; Delatycki, Martin; Donaldson, Liz; Downie, Lilian; Edwards, Caitlin; Edwards, Matthew; Engel, Amanda; Ewans, Lisa J; Faiz, Fathimath; Fennell, Andrew; Field, Michael; Freckmann, Mary-Louise; Gallacher, Lyndon; Gear, Russell; Goel, Himanshu; Goh, Shuxiang; Goodwin, Linda; Hanna, Bernadette; Harraway, James; Higgins, Megan; Ho, Gladys; Hopper, Bruce K; Horton, Ari E; Hunter, Matthew F; Huq, Aamira J; Josephi-Taylor, Sarah; Joshi, Himanshu; Kirk, Edwin; Krzesinski, Emma; Kumar, Kishore R; Lemckert, Frances; Leventer, Richard J.

Genet Med ; 24(1): 130-145, 2022 01.

Artículo en Inglés | MEDLINE | ID: mdl-34906502

2.

Effectiveness of a Pre-emptive Preoperative Belladonna and Opium Suppository on Postoperative Urgency and Pain After Ureteroscopy.

Fetzer, Susan Jane; Goodwin, Linda; Stanizzi, Matthew.

J Perianesth Nurs ; 34(3): 594-599, 2019 Jun.

Artículo en Inglés | MEDLINE | ID: mdl-30528307

3.

KBG syndrome: An Australian experience.

Murray, Natalia; Burgess, Bronwyn; Hay, Robin; Colley, Alison; Rajagopalan, Sulekha; McGaughran, Julie; Patel, Chirag; Enriquez, Annabelle; Goodwin, Linda; Stark, Zornitza; Tan, Tiong; Wilson, Meredith; Roscioli, Tony; Tekin, Mustafa; Goel, Himanshu.

Am J Med Genet A ; 173(7): 1866-1877, 2017 Jul.

Artículo en Inglés | MEDLINE | ID: mdl-28449295

4.

ZEB2 zinc-finger missense mutations lead to hypomorphic alleles and a mild Mowat-Wilson syndrome.

Ghoumid, Jamal; Drevillon, Loïc; Alavi-Naini, Seyedeh Maryam; Bondurand, Nadège; Rio, Marlène; Briand-Suleau, Audrey; Nasser, Mayssa; Goodwin, Linda; Raymond, Patrick; Yanicostas, Constantin; Goossens, Michel; Lyonnet, Stanislas; Mowat, David; Amiel, Jeanne; Soussi-Yanicostas, Nadia; Giurgea, Irina.

Hum Mol Genet ; 22(13): 2652-61, 2013 Jul 01.

Artículo en Inglés | MEDLINE | ID: mdl-23466526

5.

A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype.

Terhal, Paulien A; Nievelstein, Rutger Jan A J; Verver, Eva J J; Topsakal, Vedat; van Dommelen, Paula; Hoornaert, Kristien; Le Merrer, Martine; Zankl, Andreas; Simon, Marleen E H; Smithson, Sarah F; Marcelis, Carlo; Kerr, Bronwyn; Clayton-Smith, Jill; Kinning, Esther; Mansour, Sahar; Elmslie, Frances; Goodwin, Linda; van der Hout, Annemarie H; Veenstra-Knol, Hermine E; Herkert, Johanna C; Lund, Allan M; Hennekam, Raoul C M; Mégarbané, André; Lees, Melissa M; Wilson, Louise C; Male, Alison; Hurst, Jane; Alanay, Yasemin; Annerén, Göran; Betz, Regina C; Bongers, Ernie M H F; Cormier-Daire, Valerie; Dieux, Anne; David, Albert; Elting, Mariet W; van den Ende, Jenneke; Green, Andrew; van Hagen, Johanna M; Hertel, Niels Thomas; Holder-Espinasse, Muriel; den Hollander, Nicolette; Homfray, Tessa; Hove, Hanne D; Price, Susan; Raas-Rothschild, Annick; Rohrbach, Marianne; Schroeter, Barbara; Suri, Mohnish; Thompson, Elizabeth M; Tobias, Edward S.

Am J Med Genet A ; 167A(3): 461-75, 2015 Mar.

Artículo en Inglés | MEDLINE | ID: mdl-25604898

6.

Value of whole exome sequencing for syndromic retinal dystrophy diagnosis in young patients.

Prokudin, Ivan; Li, Dong; He, Sijie; Guo, Yiran; Goodwin, Linda; Wilson, Meredith; Rose, Loreto; Tian, Lifeng; Chen, Yulan; Liang, Jinlong; Keating, Brendan; Xu, Xun; Jamieson, Robyn V; Hakonarson, Hakon.

Clin Exp Ophthalmol ; 43(2): 132-8, 2015 Mar.

Artículo en Inglés | MEDLINE | ID: mdl-25060287

7.

Chronic myeloproliferative neoplasm in adulthood in CBL syndrome harboring a splice-site CBL variant alongside a novel constitutional CSF3R variant.

Mason, George; Aghajani, Rhian; Dance, Brieanna; Othman, Jad; Goodwin, Linda; Stevenson, William; Mackinlay, Naomi.

EJHaem ; 5(2): 397-402, 2024 Apr.

Artículo en Inglés | MEDLINE | ID: mdl-38633130

8.

Mutation-based growth charts for SEDC and other COL2A1 related dysplasias.

Terhal, Paulien A; van Dommelen, Paula; Le Merrer, Martine; Zankl, Andreas; Simon, Marleen E H; Smithson, Sarah F; Marcelis, Carlo; Kerr, Bronwyn; Kinning, Esther; Mansour, Sahar; Hennekam, Raoul C M; van der Hout, Annemarie H; Cormier-Daire, Valerie; Lund, Allan M; Goodwin, Linda; Mégarbané, André; Lees, Melissa; Betz, Regina C; Tobias, Edward S; Coucke, Paul; Mortier, Geert R.

Am J Med Genet C Semin Med Genet ; 160C(3): 205-16, 2012 Aug 15.

Artículo en Inglés | MEDLINE | ID: mdl-22791362

9.

Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis.

Ewans, Lisa J; Minoche, Andre E; Schofield, Deborah; Shrestha, Rupendra; Puttick, Clare; Zhu, Ying; Drew, Alexander; Gayevskiy, Velimir; Elakis, George; Walsh, Corrina; Adès, Lesley C; Colley, Alison; Ellaway, Carolyn; Evans, Carey-Anne; Freckmann, Mary-Louise; Goodwin, Linda; Hackett, Anna; Kamien, Benjamin; Kirk, Edwin P; Lipke, Michelle; Mowat, David; Palmer, Elizabeth; Rajagopalan, Sulekha; Ronan, Anne; Sachdev, Rani; Stevenson, William; Turner, Anne; Wilson, Meredith; Worgan, Lisa; Morel-Kopp, Marie-Christine; Field, Michael; Buckley, Michael F; Cowley, Mark J; Dinger, Marcel E; Roscioli, Tony.

Eur J Hum Genet ; 30(10): 1121-1131, 2022 10.

Artículo en Inglés | MEDLINE | ID: mdl-35970915

10.

Cooperative m-learning with nurse practitioner students.

Wyatt, Tami H; Krauskopf, Patricia B; Gaylord, Nan M; Ward, Andrew; Huffstutler-Hawkins, Shelley; Goodwin, Linda.

Nurs Educ Perspect ; 31(2): 109-13, 2010.

Artículo en Inglés | MEDLINE | ID: mdl-20455369

11.

Identification of meningococcal genes necessary for colonization of human upper airway tissue.

Exley, Rachel M; Sim, Richard; Goodwin, Linda; Winterbotham, Megan; Schneider, Muriel C; Read, Robert C; Tang, Christoph M.

Infect Immun ; 77(1): 45-51, 2009 Jan.

Artículo en Inglés | MEDLINE | ID: mdl-18936183

12.

Predictors of preterm birth in birth certificate data.

Courtney, Karen L; Stewart, Sara; Popescu, Mihail; Goodwin, Linda K.

Stud Health Technol Inform ; 136: 555-60, 2008.

Artículo en Inglés | MEDLINE | ID: mdl-18487789

13.

A rubric for improving the quality of online courses.

Blood-Siegfried, Jane E; Short, Nancy M; Rapp, Carla Gene; Hill, Elizabeth; Talbert, Steve; Skinner, John; Campbell, Amy; Goodwin, Linda.

Int J Nurs Educ Scholarsh ; 5: Article 34, 2008.

Artículo en Inglés | MEDLINE | ID: mdl-18976231

14.

Database management systems--their place in nursing informatics education.

Courtney, Karen L; Goodwin, Linda K; Aubrecht, Jill.

Comput Inform Nurs ; 29(1): 7-12, 2011.

Artículo en Inglés | MEDLINE | ID: mdl-21099538

15.

Infusing PDA technology into nursing education.

White, Ann; Allen, Patricia; Goodwin, Linda; Breckinridge, Daya; Dowell, Jeffery; Garvy, Ryan.

Nurse Educ ; 30(4): 150-4, 2005.

Artículo en Inglés | MEDLINE | ID: mdl-16030450

16.

Carotid dissection.

Goodwin, Linda.

J Insur Med ; 41(4): 293-4, 2009.

Artículo en Inglés | MEDLINE | ID: mdl-20666109

17.

Protecting patient privacy in clinical data mining.

Goodwin, Linda K; Prather, Jonathan C.

J Healthc Inf Manag ; 16(4): 62-7, 2002.

Artículo en Inglés | MEDLINE | ID: mdl-12365302

18.

Point-of-care testing: issues and opportunities.

Goodwin, Linda.

Nurs Manage ; 39(3): 40-3, 2008 Mar.

Artículo en Inglés | MEDLINE | ID: mdl-18414225

19.

Vision rehabilitation and AMD.

Colenbrander, August; Goodwin, Linda; Fletcher, Donald C.

Int Ophthalmol Clin ; 47(1): 139-48, 2007.

Artículo en Inglés | MEDLINE | ID: mdl-17237678

20.

Acoustic neuroma and radiosurgery.

Goodwin, Linda.

J Insur Med ; 39(1): 44-6, 2007.

Artículo en Inglés | MEDLINE | ID: mdl-17500357

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Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants.

Effectiveness of a Pre-emptive Preoperative Belladonna and Opium Suppository on Postoperative Urgency and Pain After Ureteroscopy.

KBG syndrome: An Australian experience.

ZEB2 zinc-finger missense mutations lead to hypomorphic alleles and a mild Mowat-Wilson syndrome.

A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype.

Value of whole exome sequencing for syndromic retinal dystrophy diagnosis in young patients.

Chronic myeloproliferative neoplasm in adulthood in CBL syndrome harboring a splice-site CBL variant alongside a novel constitutional CSF3R variant.

Mutation-based growth charts for SEDC and other COL2A1 related dysplasias.

Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis.

Cooperative m-learning with nurse practitioner students.

Identification of meningococcal genes necessary for colonization of human upper airway tissue.

Predictors of preterm birth in birth certificate data.

A rubric for improving the quality of online courses.

Database management systems--their place in nursing informatics education.

Infusing PDA technology into nursing education.

Carotid dissection.

Protecting patient privacy in clinical data mining.

Point-of-care testing: issues and opportunities.

Vision rehabilitation and AMD.

Acoustic neuroma and radiosurgery.