Búsqueda | Biblioteca Virtual en Salud

1.

Biallelic disruption of PKDCC is associated with a skeletal disorder characterised by rhizomelic shortening of extremities and dysmorphic features.

Sajan, Samin A; Ganesh, Jaya; Shinde, Deepali N; Powis, Zöe; Scarano, Maria I; Stone, Jennifer; Winter, Susan; Tang, Sha.

J Med Genet ; 56(12): 850-854, 2019 12.

Artículo en Inglés | MEDLINE | ID: mdl-30478137

2.

Role-Playing Computer Ethics: Designing and Evaluating the Privacy by Design (PbD) Simulation.

Shilton, Katie; Heidenblad, Donal; Porter, Adam; Winter, Susan; Kendig, Mary.

Sci Eng Ethics ; 26(6): 2911-2926, 2020 12.

Artículo en Inglés | MEDLINE | ID: mdl-32613325

3.

Negotiated Sharing of Pandemic Data, Models, and Resources.

Cutcher-Gershenfeld, Joel; Baker, Karen S; Berente, Nicholas; Berkman, Paul Arthur; Canavan, Pat; Feltus, F Alex; Garmulewicz, Alysia; Hutchins, Ron; King, John Leslie; Kirkpatrick, Christine; Lenhardt, Chris; Lewis, Spencer; Maffe, Michael; Mittleman, Barbara; Sampath, Rajesh; Shin, Namchul; Stall, Shelley; Winter, Susan; Veazey, Pips.

Negot J ; 36(4): 497-534, 2020.

Artículo en Inglés | MEDLINE | ID: mdl-38607846

4.

De novo missense variants in MEIS2 recapitulate the microdeletion phenotype of cardiac and palate abnormalities, developmental delay, intellectual disability and dysmorphic features.

Douglas, Ganka; Cho, Megan T; Telegrafi, Aida; Winter, Susan; Carmichael, Jason; Zackai, Elaine H; Deardorff, Matthew A; Harr, Margaret; Williams, Linford; Psychogios, Apostolos; Erwin, Angelika L; Grebe, Theresa; Retterer, Kyle; Juusola, Jane.

Am J Med Genet A ; 176(9): 1845-1851, 2018 09.

Artículo en Inglés | MEDLINE | ID: mdl-30055086

5.

Five ways consortia can catalyse open science.

Cutcher-Gershenfeld, Joel; Baker, Karen S; Berente, Nicholas; Flint, Courtney; Gershenfeld, Gabriel; Grant, Brandon; Haberman, Michael; King, John Leslie; Kirkpatrick, Christine; Lawrence, Barbara; Lewis, Spenser; Lenhardt, W Christopher; Mayernik, Matthew; McElroy, Charles; Mittleman, Barbara; Shin, Namchul; Stall, Shelley; Winter, Susan; Zaslavsky, Ilya.

Nature ; 543(7647): 615-617, 2017 03 29.

Artículo en Inglés | MEDLINE | ID: mdl-28358098

6.

The role of IQSEC2 in syndromic intellectual disability: Narrowing the diagnostic odyssey.

Helm, Benjamin M; Powis, Zoe; Prada, Carlos E; Casasbuenas-Alarcon, Olga L; Balmakund, Tonya; Schaefer, G B; Kahler, Stephen G; Kaylor, Julie; Winter, Susan; Zarate, Yuri A; Schrier Vergano, Samantha A.

Am J Med Genet A ; 173(10): 2814-2820, 2017 Oct.

Artículo en Inglés | MEDLINE | ID: mdl-28815955

7.

Round Table Discussion.

Winter, Susan; Buist, Neil R M; Longo, Nicola; Armenian, Saro H; Lopaschuk, Gary; Wasilewska, Anna.

Ann Nutr Metab ; 68 Suppl 3: 21-23, 2016.

Artículo en Inglés | MEDLINE | ID: mdl-27931031

8.

MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways.

Paciorkowski, Alex R; Traylor, Ryan N; Rosenfeld, Jill A; Hoover, Jacqueline M; Harris, Catharine J; Winter, Susan; Lacassie, Yves; Bialer, Martin; Lamb, Allen N; Schultz, Roger A; Berry-Kravis, Elizabeth; Porter, Brenda E; Falk, Marni; Venkat, Anu; Vanzo, Rena J; Cohen, Julie S; Fatemi, Ali; Dobyns, William B; Shaffer, Lisa G; Ballif, Blake C; Marsh, Eric D.

Neurogenetics ; 14(2): 99-111, 2013 May.

Artículo en Inglés | MEDLINE | ID: mdl-23389741

9.

Foreword.

Winter, Susan.

Ann Nutr Metab ; 68 Suppl 3: V-VI, 2016.

Artículo en Inglés | MEDLINE | ID: mdl-27931016

10.

Quantification of intraoral pressures during nutritive sucking: methods with normal infants.

Lang, William Christopher; Buist, Neil R M; Geary, Annmarie; Buckley, Scott; Adams, Elizabeth; Jones, Albyn C; Gorsek, Stephen; Winter, Susan C; Tran, Hanh; Rogers, Brian R.

Dysphagia ; 26(3): 277-86, 2011 Sep.

Artículo en Inglés | MEDLINE | ID: mdl-20853119

11.

Organizational and training factors that promote team science: A qualitative analysis and application of theory to the National Institutes of Health's BIRCWH career development program.

Guise, Jeanne-Marie; Winter, Susan; Fiore, Stephen M; Regensteiner, Judith G; Nagel, Joan.

J Clin Transl Sci ; 1(2): 101-107, 2017 Apr.

Artículo en Inglés | MEDLINE | ID: mdl-28649451

12.

STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy.

Stamberger, Hannah; Nikanorova, Marina; Willemsen, Marjolein H; Accorsi, Patrizia; Angriman, Marco; Baier, Hartmut; Benkel-Herrenbrueck, Ira; Benoit, Valérie; Budetta, Mauro; Caliebe, Almuth; Cantalupo, Gaetano; Capovilla, Giuseppe; Casara, Gianluca; Courage, Carolina; Deprez, Marie; Destrée, Anne; Dilena, Robertino; Erasmus, Corrie E; Fannemel, Madeleine; Fjær, Roar; Giordano, Lucio; Helbig, Katherine L; Heyne, Henrike O; Klepper, Joerg; Kluger, Gerhard J; Lederer, Damien; Lodi, Monica; Maier, Oliver; Merkenschlager, Andreas; Michelberger, Nina; Minetti, Carlo; Muhle, Hiltrud; Phalin, Judith; Ramsey, Keri; Romeo, Antonino; Schallner, Jens; Schanze, Ina; Shinawi, Marwan; Sleegers, Kristel; Sterbova, Katalin; Syrbe, Steffen; Traverso, Monica; Tzschach, Andreas; Uldall, Peter; Van Coster, Rudy; Verhelst, Helene; Viri, Maurizio; Winter, Susan; Wolff, Markus; Zenker, Martin.

Neurology ; 86(10): 954-62, 2016 Mar 08.

Artículo en Inglés | MEDLINE | ID: mdl-26865513

13.

Long chain alkanes in silk extracts of maize genotypes with varying resistance to Fusarium graminearum.

Miller, S Shea; Reid, Lana M; Butler, Gail; Winter, Susan P; McGoldrick, Nadia J.

J Agric Food Chem ; 51(23): 6702-8, 2003 Nov 05.

Artículo en Inglés | MEDLINE | ID: mdl-14582963

14.

Detection of copy-number variation in AUTS2 gene by targeted exonic array CGH in patients with developmental delay and autistic spectrum disorders.

Nagamani, Sandesh C S; Erez, Ayelet; Ben-Zeev, Bruria; Frydman, Moshe; Winter, Susan; Zeller, Robert; El-Khechen, Dima; Escobar, Luis; Stankiewicz, Pawel; Patel, Ankita; Cheung, Sau Wai.

Eur J Hum Genet ; 21(3): 343-6, 2013 Mar.

Artículo en Inglés | MEDLINE | ID: mdl-22872102

15.

A commentary on the pluralistic goals, logics of action, and institutional contexts of translational team science.

Winter, Susan J; Berente, Nicholas.

Transl Behav Med ; 2(4): 441-5, 2012 Dec.

Artículo en Inglés | MEDLINE | ID: mdl-24073145

16.

Particulate face masks for protection against airborne pathogens - one size does not fit all: an observational study.

Winter, Susan; Thomas, Jane H; Stephens, Dianne P; Davis, Joshua S.

Crit Care Resusc ; 12(1): 24-7, 2010 Mar.

Artículo en Inglés | MEDLINE | ID: mdl-20196710

17.

Efficacy of field treatments to reduce body core temperature in hyperthermic subjects.

Sinclair, Wade H; Rudzki, Stephan J; Leicht, Anthony S; Fogarty, Alison L; Winter, Susan K; Patterson, Mark J.

Med Sci Sports Exerc ; 41(11): 1984-90, 2009 Nov.

Artículo en Inglés | MEDLINE | ID: mdl-19812521

18.

Open data: crediting a culture of cooperation.

Bolukbasi, Burcu; Berente, Nicholas; Cutcher-Gershenfeld, Joel; Dechurch, Leslie; Flint, Courtney; Haberman, Michael; King, John Leslie; Knight, Eric; Lawrence, Barbara; Masella, Ethan; McElroy, Charles; Mittleman, Barbara; Nolan, Mark; Radik, Melanie; Shin, Namchul; Thompson, Cheryl A; Winter, Susan; Zaslavsky, Ilya; Allison, M Lee; Arctur, David; Arrigo, Jennifer; Aufdenkampe, Anthony K; Bass, Jay; Crowell, Jim; Daniels, Mike; Diggs, Stephen; Duffy, Christopher; Gil, Yolanda; Gomez, Basil; Graves, Sara; Hazen, Robert; Hsu, Leslie; Kinkade, Danie; Lehnert, Kerstin; Marone, Chris; Middleton, Don; Noren, Anders; Pearthree, Genevieve; Ramamurthy, Mohan; Robinson, Erin; Percivall, George; Richard, Stephen; Suarez, Celina; Walker, Doug.

Science ; 342(6162): 1041-2, 2013 Nov 29.

Artículo en Inglés | MEDLINE | ID: mdl-24288316

19.

A case study of landholder attitudes and behaviour toward the conservation of renosterveld, a critically endangered vegetation type in Cape Floral Kingdom, South Africa.

Winter, Susan J; Prozesky, Heidi; Esler, Karen J.

Environ Manage ; 40(1): 46-61, 2007 Jul.

Artículo en Inglés | MEDLINE | ID: mdl-17530328

Biblioteca Virtual en Salud

Hipertensión

Su selección (0)

Formato de exportación:

Exportar: