Aneurisma micótico abdominal debido a Listeria monocytogenes

Laín Miranda, Elena ; Ferrer Cerón, Isabel ; Gil Pérez, Desiré ; Revillo Pinilla, M. José

Elsevier España, S.L.U

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100,000 genomes project: Integrating whole genome sequencing (WGS) data into clinical practice

Sosinsky, A. ; Ambrose, J. ; Zarowiecki, M. ; Mitchell, J. ; Henderson, S. ; Murugaesu, N. ; Hamblin, A. ; Turnbull, C. ; Walker, S. ; Perez-Gil, D. ; Rueda-Martin, A. ; Fowler, T. ; Caulfield, M. ; Rendon, A.

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1O100,000 genomes project: Integrating whole genome sequencing (WGS) data into clinical practice

Sosinsky, A ; Ambrose, J ; Zarowiecki, M ; Mitchell, J ; Henderson, S ; Murugaesu, N ; Hamblin, A ; Turnbull, C ; Walker, S ; Perez-Gil, D ; Rueda-Martin, A ; Fowler, T ; Caulfield, M ; Rendon, A

Oxford University Press

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De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas

Tolchin, Dara ; Yeager, Jessica P. ; Prasad, Priya ; Dorrani, Naghmeh ; Russi, Alvaro Serrano ; Martinez-Agosto, Julian A. ; Haseeb, Abdul ; Santen, G.W.E. ; Ruivenkamp, Claudia ; Mercimek-Andrews, Saadet ; Depienne, Christel ; Kuechler, Alma ; Mikat, Barbara ; Ludecke, Hermann-Josef ; Bilan, Frederic ; Le Guyader, Gwenael ; Gilbert-Dussardier, Brigitte ; Keren, Boris ; Heide, Solveig ; Haye, Damien ; Van Esch, Hilde ; Keldermans, Liesbeth ; Lancaster, Emily ; Krantz, Ian D. ; Krock, Bryan L. ; DeChene, Elizabeth T. ; Melistaccio, Giada ; Suri, Mohnish ; Foulds, Nicola ; Bleda, M. ; Boardman-Pretty, F. ; Boissiere, J.M. ; Boustred, C.R. ; Caulfield, M.J. ; Chan, G.C. ; Craig, C.E.H. ; Daugherty, L.C. ; Devereau, A. ; Elgar, G. ; Foulger, R.E. ; Fowler, T. ; Furió-Tarí, P. ; Hackett, J.M. ; Halai, D. ; Holman, J.E. ; Hubbard, T.J.P. ; Lahnstein, L. ; Lawson, K. ; Leigh, S.E.A. ; Leong, I.U.S. ; Maleady-Crowe, F. ; Mason, J. ; McDonagh, E.M. ; Need, A.C. ; Odhams, C.A. ; Perez-Gil, D. ; Polychronopoulos, D. ; Pullinger, J. ; Rahim, T. ; Rendon, A. ; Rogers, T. ; Ryten, M. ; Savage, K. ; Scott, R.H. ; Siddiq, A. ; Sieghart, A. ; Smedley, D. ; Smith, K.R. ; Sosinsky, A. ; Spooner, W. ; Stevens, H.E. ; Stuckey, A. ; Thomas, E.R.A. ; Thompson, S.R. ; Tregidgo, C. ; Tucci, A. ; Walsh, E. ; Welland, M.J. ; Williams, E. ; Witkowska, K. ; Wood, S.M. ; Zarowiecki, M. ; Begtrup, Amber ; Henderson, Lindsay B. ; Forster, Cara ; Reed, Patrick ; McDonald, Marie T. ; McConkie-Rosell, Allyn ; Thevenon, Julien ; Le Tanno, Pauline ; Coutton, Charles ; Stewart, Sarah ; Maver, Ales ; Gorazd, Rudolf ; Pichon, Olivier ; Nizon, Mathilde ; Cogné, Benjamin ; Isidor, Bertrand ; Stoeva, Radka ; Le Caignec, Cédric

United States: Elsevier Inc

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DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration

Vig, Anjali ; Poulter, James A ; Ottaviani, Daniele ; Tavares, Erika ; Toropova, Katerina ; Tracewska, Anna Maria ; Mollica, Antonio ; Kang, Jasmine ; Kehelwathugoda, Oshini ; Paton, Tara ; Maynes, Jason T ; Wheway, Gabrielle ; Arno, Gavin ; Khan, Kamron N ; McKibbin, Martin ; Toomes, Carmel ; Ali, Manir ; Di Scipio, Matteo ; Li, Shuning ; Ellingford, Jamie ; Black, Graeme ; Webster, Andrew ; Rydzanicz, Małgorzata ; Stawiński, Piotr ; Płoski, Rafał ; Vincent, Ajoy ; Cheetham, Michael E ; Inglehearn, Chris F ; Roberts, Anthony ; Heon, Elise

United States: Elsevier Limited

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Enterococcus faecium meningitis secondary to epidural anesthesia. About a case and review of the literature

Ruiz Torres, B ; Ramos Paesa, C ; Rivero Salvador, T ; Marín Zaldívar, C ; Gil Pérez, D

Spain

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Heterozygous lamin B1 and lamin B2 variants cause primary microcephaly and define a novel laminopathy

Parry, David A ; Martin, Carol-Anne ; Greene, Philip ; Marsh, Joseph A ; Blyth, Moira ; Cox, Helen ; Donnelly, Deirdre ; Greenhalgh, Lynn ; Greville-Heygate, Stephanie ; Harrison, Victoria ; Lachlan, Katherine ; McKenna, Caoimhe ; Quigley, Alan J ; Rea, Gillian ; Robertson, Lisa ; Suri, Mohnish ; Jackson, Andrew P

United States: Elsevier Limited

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Enterococcus faecium meningitis secondary to epidural anesthesia. About a case and review of the literature

Ruiz Torres, B. ; Ramos Paesa, C. ; Rivero Salvador, T. ; Marín Zaldivar, C. ; Gil Pérez, D.

Elsevier España, S.L.U

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Meningitis por Enterococcus faecium secundaria a anestesia epidural. A propósito de un caso y revisión de la literatura

Ruiz Torres, B. ; Ramos Paesa, C. ; Rivero Salvador, T. ; Marín Zaldívar, C. ; Gil Pérez, D.

Elsevier España, S.L.U

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