Results 301 to 310 of about 1,041,152 (399)

Exome sequencing in Nigerian children with early-onset epilepsy syndromes. [PDF]

Epilepsia Open
Ademuwagun IA, Adam Y, Rotimi SO, Syrbe S, Radtke M, Hentschel J, Lemke JR, Adebiyi E.   +7 more
europepmc   +1 more source

CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia [PDF]

, 2016
De Belleroche, JS
core   +1 more source

Exome sequencing generates high quality data in non-target regions [PDF]

, 2012
Yan Guo, Jirong Long, Jing He, Chung-I Li, Qiuyin Cai, Xiao‐Ou Shu, Wei Zheng, Chun Li   +7 more
openalex   +1 more source

Pathogenic variants identification in primary congenital glaucoma patients using whole exome sequencing. [PDF]

Sci Rep
Ahmad S, Gandapur MS, Jelani M, Muhammad A, Haq IU, Mahsood YJ, Ahmad S, Alonazi WB, Bibi N, Sarwar MT, Khan TA.   +10 more
europepmc   +1 more source

Next generation massively parallel sequencing of targeted exomes to identify genetic mutations in primary ciliary dyskinesia: Implications for application to clinical testing

, 2011
Jonathan S. Berg, James P. Evans, Margaret W. Leigh, Heymut Omran, Chris Bizon, Ketan K. Mane, Michael R. Knowles, Karen E. Weck, Maimoona A. Zariwala   +8 more
openalex   +2 more sources

Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study

The Lancet, 2019
J. Lord, D. McMullan, R. Y. Eberhardt, G. Rinck, S. Hamilton, E. Quinlan-Jones, E. Prigmore, Rebecca Keelagher, Sunayna Best, Georgina K. Carey, Rhiannon Mellis, S. Robart, Ian R Berry, K. Chandler, D. Cilliers, L. Cresswell, S. Edwards, C. Gardiner, A. Henderson, S. Holden, T. Homfray, T. Lester, R. Lewis, R. Newbury-Ecob, K. Prescott, O. Quarrell, S. Ramsden, E. Roberts, Dagmar Tapon, Madeleine J Tooley, P. Vasudevan, A. Weber, D. Wellesley, P. Westwood, H. White, M. Parker, Denise Williams, L. Jenkins, R. Scott, M. Kilby, L. Chitty, M. Hurles, E. Maher, M. Bateman, Ian R Berry, Sunayna Best, Carolyn Campbell, Jennie Campbell, Georgina K. Carey, K. Chandler, L. Chitty, D. Cilliers, K. Cohen, E. Collingwood, Panayiotis Constantinou, L. Cresswell, C. Delmege, R. Y. Eberhardt, S. Edwards, Richard Ellis, Jerry Evans, Thomas Everett, Clare F Pinto, N. Forrester, Emma Fowler, C. Gardiner, S. Hamilton, K. Healey, A. Henderson, S. Holden, T. Homfray, Rebecca Hudson, M. Hurles, L. Jenkins, Rebecca Keelagher, M. Kilby, T. Lester, R. Lewis, J. Lord, E. Maher, T. Marton, D. McMullan, S. Mehta, Rhiannon Mellis, R. Newbury-Ecob, Soo-Mi Park, M. Parker, K. Prescott, E. Prigmore, O. Quarrell, E. Quinlan-Jones, S. Ramsden, G. Rinck, S. Robart, E. Roberts, Jay F Rowland, R. Scott, James Steer, Dagmar Tapon, E. Taylor, Madeleine J Tooley, P. Vasudevan, A. Weber, D. Wellesley, P. Westwood, H. White, Denise Williams, Elizabeth Wilson   +107 more
semanticscholar   +1 more source

Exome Sequencing Followed by Large-Scale Genotyping Fails to Identify Single Rare Variants of Large Effect in Idiopathic Generalized Epilepsy

, 2012
Erin L. Heinzen, Chantal Depondt, Gianpiero L. Cavalleri, Elizabeth K. Ruzzo, Sophie Nicole, Anna C. Need, Dongliang Ge, Min He, Elizabeth T. Cirulli, Qian Zhao, Kenneth Cronin, Curtis Gumbs, C. Ryan Campbell, Linda K. Hong, Jessica M. Maia, Kevin V. Shianna, Mark McCormack, Rodney A. Radtke, Gerard D. O'Conner, Mohamad A. Mikati, William Gallentine, Aatif M. Husain, Saurabh R. Sinha, Krishna Chinthapalli, Ram S. Puranam, James O McNamara, Ruth Ottman, Sanjay M. Sisodiya, Norman Delanty, David Goldstein   +29 more
openalex   +1 more source

Use of targeted exome sequencing as a diagnostic tool for Familial Hypercholesterolaemia [PDF]

, 2012
Marta Futema, Vincent Plagnol, Ros Whittall, H. A. W. Neil, Steve E. Humphries   +4 more
openalex   +1 more source

Association of clonal haematopoiesis with heart failure incidence and outcomes: A systematic review and meta‐analysis

European Journal of Heart Failure, EarlyView.
Association of clonal haematopoiesis with heart failure incidence and outcomes: A systematic review and meta‐analysis. Clonal haematopoiesis and heart failure: a meta‐analysis. CH, clonal haematopoiesis; CI, confidence interval; HF, heart failure. [Correction added on 15 March 2025, after first online publication: The graphical image was corrected in ...
Paschalis Karakasis, Eleftheria Lefkou, Konstantinos Pamporis, Dimitrios Farmakis, Dimitrios Patoulias, Antonios P. Antoniadis, Stephane Heymans, Gerasimos Filippatos, Nikolaos Fragakis   +8 more
wiley   +1 more source

Whole-Exome Sequencing: Discovering Genetic Causes of Granulomatous Mastitis. [PDF]

Int J Mol Sci
Ozcinar B, Ocak Z, Billur D, Ertugrul B, Timirci-Kahraman O.   +4 more
europepmc   +1 more source