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Material Type: Artigo
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100,000 genomes project: Integrating whole genome sequencing (WGS) data into clinical practiceSosinsky, 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.Annals of oncology, 2019-11, Vol.30, p.vii1 [Periódico revisado por pares]Texto completo disponível |
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Material Type: Artigo
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1O100,000 genomes project: Integrating whole genome sequencing (WGS) data into clinical practiceSosinsky, 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, AAnnals of oncology, 2019-11, Vol.30 (Supplement_7) [Periódico revisado por pares]Oxford University PressTexto completo disponível |
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Material Type: Artigo
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De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and OsteochondromasTolchin, 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, CédricAmerican journal of human genetics, 2020-06, Vol.106 (6), p.830-845 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degenerationVig, 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, EliseGenetics in medicine, 2020-12, Vol.22 (12), p.2041-2051 [Periódico revisado por pares]United States: Elsevier LimitedSem texto completo |
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Material Type: Artigo
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Enterococcus faecium meningitis secondary to epidural anesthesia. About a case and review of the literatureRuiz Torres, B ; Ramos Paesa, C ; Rivero Salvador, T ; Marín Zaldívar, C ; Gil Pérez, DRevista española de anestesiología y reanimación, 2020-12 [Periódico revisado por pares]SpainSem texto completo |
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Material Type: Artigo
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Heterozygous lamin B1 and lamin B2 variants cause primary microcephaly and define a novel laminopathyParry, 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 PGenetics in medicine, 2021-02, Vol.23 (2), p.408-414 [Periódico revisado por pares]United States: Elsevier LimitedSem texto completo |
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Material Type: Artigo
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Enterococcus faecium meningitis secondary to epidural anesthesia. About a case and review of the literatureRuiz Torres, B. ; Ramos Paesa, C. ; Rivero Salvador, T. ; Marín Zaldivar, C. ; Gil Pérez, D.Revista española de anestesiología y reanimación (English ed.), 2021-06, Vol.68 (6), p.357-360Elsevier España, S.L.UTexto completo disponível |
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Material Type: Report
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Enterococcus faecium meningitis secondary to epidural anesthesia. About a case and review of the literatureRuiz Torres, B ; Ramos Paesa, C ; Rivero Salvador, T ; Marín Zaldívar, C ; Gil Pérez, DRevista espanola de anestesiologia y reanimacion, 2021, Vol.68 (6), p.357-360Texto completo disponível |
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Material Type: Artigo
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Biallelic variants in KARS1 are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafishLin, Sheng-Jia ; Barbalho, Patricia G. ; Kaiyrzhanov, Rauan ; Maroofian, Reza ; Petree, Cassidy ; Severino, Mariasavina ; Stanley, Valentina ; Varshney, Pratishtha ; Bahena, Paulina ; Alzahrani, Fatema ; Alhashem, Amal ; Pagnamenta, Alistair T. ; Aubertin, Gudrun ; Estrada-Veras, Juvianee I. ; Hernández, Héctor Adrián Díaz ; Mazaheri, Neda ; Oza, Andrea ; Thies, Jenny ; Renaud, Deborah L. ; Dugad, Sanmati ; McEvoy, Jennifer ; Sultan, Tipu ; Pais, Lynn S. ; Tabarki, Brahim ; Villalobos-Ramirez, Daniel ; Rad, Aboulfazl ; Ambrose, J.C. ; Arumugam, P. ; Bleda, M. ; Boardman-Pretty, F. ; Boustred, C.R. ; Brittain, H. ; Caulfield, M.J. ; Chan, G.C. ; Fowler, T. ; Giess, A. ; Hamblin, A. ; Henderson, S. ; Hubbard, T.J.P. ; Jackson, R. ; Jones, L.J. ; Kasperaviciute, D. ; Kayikci, M. ; Kousathanas, A. ; Lahnstein, L. ; Leigh, S.E.A. ; Leong, I.U.S. ; Lopez, F.J. ; Maleady-Crowe, F. ; Moutsianas, L. ; Mueller, M. ; Murugaesu, N. ; Need, A.C. ; O‘Donovan, P. ; Odhams, C.A. ; Patch, C. ; Perez-Gil, D. ; Pereira, M.B. ; Pullinger, J. ; Rendon, A. ; Rogers, T. ; Savage, K. ; Sawant, K. ; Scott, R.H. ; Siddiq, A. ; Sieghart, A. ; Smith, S.C. ; Sosinsky, A. ; Stuckey, A. ; Tanguy, M. ; Thomas, E.R.A. ; Thompson, S.R. ; Tucci, A. ; Walsh, E. ; Welland, M.J. ; Williams, E. ; Witkowska, K. ; Wood, S.M. ; Galehdari, Hamid ; Ashrafzadeh, Farah ; Sahebzamani, Afsaneh ; Saeidi, Kolsoum ; Torti, Erin ; Elloumi, Houda Z. ; Mora, Sara ; Palculict, Timothy B. ; Yang, Hui ; Ben Fowler ; Joshi, Manali ; Behra, Martine ; Burgess, Shawn M. ; Nath, Swapan K. ; Kenna, Margaret ; Houlden, Henry ; Karimiani, Ehsan Ghayoor ; Zaki, Maha S. ; Haaf, Thomas ; Alkuraya, Fowzan S. ; Gleeson, Joseph G. ; Varshney, Gaurav K.Genetics in medicine, 2021-10, Vol.23 (10), p.1933-1943 [Periódico revisado por pares]United States: Elsevier IncSem texto completo |
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Material Type: Artigo
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Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomaliesIqbal, Maria ; Maroofian, Reza ; Çavdarlı, Büşranur ; Riccardi, Florence ; Field, Michael ; Banka, Siddharth ; Bubshait, Dalal K ; Li, Yun ; Hertecant, Jozef ; Baig, Shahid Mahmood ; Dyment, David ; Efthymiou, Stephanie ; Abdullah, Uzma ; Makhdoom, Ehtisham Ul Haq ; Ali, Zafar ; Scherf de Almeida, Tobias ; Molinari, Florence ; Mignon-Ravix, Cécile ; Chabrol, Brigitte ; Antony, Jayne ; Ades, Lesley ; Pagnamenta, Alistair T ; Jackson, Adam ; Douzgou, Sofia ; Beetz, Christian ; Karageorgou, Vasiliki ; Vona, Barbara ; Rad, Aboulfazl ; Baig, Jamshaid Mahmood ; Sultan, Tipu ; Alvi, Javeria Raza ; Maqbool, Shazia ; Rahman, Fatima ; Toosi, Mehran Beiraghi ; Ashrafzadeh, Farah ; Imannezhad, Shima ; Karimiani, Ehsan Ghayoor ; Sarwar, Yasra ; Khan, Sheraz ; Jameel, Muhammad ; Noegel, Angelika A ; Budde, Birgit ; Altmüller, Janine ; Motameny, Susanne ; Höhne, Wolfgang ; Houlden, Henry ; Nürnberg, Peter ; Wollnik, Bernd ; Villard, Laurent ; Alkuraya, Fowzan Sami ; Osmond, Matthew ; Hussain, Muhammad Sajid ; Yigit, GökhanGenetics in medicine, 2021-11, Vol.23 (11), p.2138-2149 [Periódico revisado por pares]United States: Elsevier LimitedSem texto completo |