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Goll, Yvan [Author] ; Salter, George [Illustrator]; Berton, Germaine [Illustrator]; Berings, Louis [Illustrator]Germaine Berton, die rote JungfrauClose
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Published in: Aussenseiter der Gesellschaft ; 5
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Goll, Yvan [Author] ; Glauert-Hesse, Barbara [Editor]; Glauert-Hesse, Barbara [Author of afterword, colophon, etc.]; Berings, Louis [Illustrator]; Berton, Germaine [Illustrator]; Salter, George [Illustrator] Wallstein-VerlagGermaine Berton : die rote Jungfrau - [Erste Auflage]Close
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Salter, Claire G. [Author]; Cai, Yiying [Author]; Lo, Bernice [Author]; Helman, Guy [Author]; Taylor, Henry [Author]; McCartney, Amber [Author]; Leslie, Joseph S [Author]; Accogli, Andrea [Author]; Zara, Federico [Author]; Traverso, Monica [Author]; Fasham, James [Author]; Lees, Joshua A [Author]; Ferla, Matteo P [Author]; Chioza, Barry A [Author]; Wenger, Olivia [Author]; Scott, Ethan [Author]; Cross, Harold E [Author]; Crawford, Joanna [Author]; Warshawsky, Ilka [Author]; Keisling, Matthew [Author]; Agamanolis, Dimitris [Author]; Ward Melver, Catherine [Author]; Cox, Helen [Author]; Elawad, Mamoun [Author]; [...]Biallelic PI4KA variants cause neurological, intestinal and immunological diseaseView onlineSchließen
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Published in: Brain ; 144(2021), 12, Seite 3597-3610
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Salter, Claire G.; Baralle, Diana; Collinson, Morag N.; Self, James E.Expanding the ocular phenotype of 14q terminal deletions: A novel presentation of microphthalmia and coloboma in ring 14 syndrome with associated 14q32.31 deletion and review of the literatureView onlineSchließen
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Published in: American Journal of Medical Genetics Part A
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Salter, Claire G.; Davies, Justin H.; Moon, Rebecca J.; Fairhurst, Joanna; Bunyan, David; Foulds, NicolaFurther defining the phenotypic spectrum of B4GALT7 mutationsView onlineSchließen
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Published in: American Journal of Medical Genetics Part A
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Collins, Jon L.; Shearer, Barry G.; Oplinger, Jeffrey A.; Lee, Shuliang; Garvey, Edward P.; Salter, Mark; Duffy, Claire; Burnette, Thimysta C.; Furfine, Eric S.N-Phenylamidines as Selective Inhibitors of Human Neuronal Nitric Oxide Synthase: Structure−Activity Studies and Demonstration of in Vivo ActivityView onlineSchließen
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Published in: Journal of Medicinal Chemistry
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Leslie, Joseph S.; Rawlins, Lettie E.; Chioza, Barry A.; Olubodun, Oluwaseun R.; Salter, Claire G.; Fasham, James; Jones, Hannah F.; Cross, Harold E.; Lam, Simon; Harlalka, Gaurav V.; Muggenthaler, Martina M. A.; Crosby, Andrew H.; Baple, Emma L.MNS1 variant associated with situs inversus and male infertilityView onlineSchließen
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Published in: European Journal of Human Genetics
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Fasham, James; Arno, Gavin; Lin, Siying; Xu, Mingchu; Carss, Keren J.; Hull, Sarah; Lane, Amelia; Robson, Anthony G.; Wenger, Olivia; Self, Jay E.; Harlalka, Gaurav V.; Salter, Claire G.; Schema, Lynn; Moss, Timothy J.; Cheetham, Michael E.; Moore, Anthony T.; Raymond, F. Lucy; Chen, Rui; Baple, Emma L.; Webster, Andrew R.; Crosby, Andrew H.Delineating the expanding phenotype associated with SCAPER gene mutationView onlineSchließen
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You can manage bookmarks using lists, please log in to your user account for this.Wiley, 2019
Published in: American Journal of Medical Genetics Part A
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Salter, Claire G.; Beijer, Danique; Hardy, Holly; Barwick, Katy E.S.; Bower, Matthew; Mademan, Ines; De Jonghe, Peter; Deconinck, Tine; Russell, Mark A.; McEntagart, Meriel M.; Chioza, Barry A.; Blakely, Randy D.; Chilton, John K.; De Bleecker, Jan; Baets, Jonathan; Baple, Emma L.; Walk, David; Crosby, Andrew H.Truncating SLC5A7 mutations underlie a spectrum of dominant hereditary motor neuropathiesView onlineSchließen
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Published in: Neurology Genetics
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Wang, Haicui; Salter, Claire G; Refai, Osama; Hardy, Holly; Barwick, Katy E S; Akpulat, Ugur; Kvarnung, Malin; Chioza, Barry A; Harlalka, Gaurav; Taylan, Fulya; Sejersen, Thomas; Wright, Jane; Zimmerman, Holly H; Karakaya, Mert; Stüve, Burkhardt; Weis, Joachim; Schara, Ulrike; Russell, Mark A; Abdul-Rahman, Omar A; Chilton, John; Blakely, Randy D; Baple, Emma L; Cirak, Sebahattin; Crosby, Andrew HCholine transporter mutations in severe congenital myasthenic syndrome disrupt transporter localizationView onlineSchließen
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Published in: Brain
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Jeffries, Aaron R.; Maroofian, Reza; Salter, Claire G.; Chioza, Barry A.; Cross, Harold E.; Patton, Michael A.; Dempster, Emma; Temple, I. Karen; Mackay, Deborah J.G.; Rezwan, Faisal I.; Aksglaede, Lise; Baralle, Diana; Dabir, Tabib; Hunter, Matthew F.; Kamath, Arveen; Kumar, Ajith; Newbury-Ecob, Ruth; Selicorni, Angelo; Springer, Amanda; Van Maldergem, Lionel; Varghese, Vinod; Yachelevich, Naomi; Tatton-Brown, Katrina; Mill, Jonathan; [...]Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic agingView onlineSchließen
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Published in: Genome Research
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Tábara, Luis Carlos; Al-Salmi, Fatema; Maroofian, Reza; Al-Futaisi, Amna Mohammed; Al-Murshedi, Fathiya; Kennedy, Joanna; Day, Jacob O; Courtin, Thomas; Al-Khayat, Aisha; Galedari, Hamid; Mazaheri, Neda; Protasoni, Margherita; Johnson, Mark; Leslie, Joseph S; Salter, Claire G; Rawlins, Lettie E; Fasham, James; Al-Maawali, Almundher; Voutsina, Nikol; Charles, Perrine; Harrold, Laura; Keren, Boris; Kunji, Edmund R S; Vona, Barbara; [...]TMEM63C mutations cause mitochondrial morphology defects and underlie hereditary spastic paraplegiaView onlineSchließen
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Published in: Brain
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Ahmed, Mustafa Y.; Al-Khayat, Aisha; Al-Murshedi, Fathiya; Al-Futaisi, Amna; Chioza, Barry A.; Pedro Fernandez-Murray, J.; Self, Jay E.; Salter, Claire G.; Harlalka, Gaurav V.; Rawlins, Lettie E.; Al-Zuhaibi, Sana; Al-Azri, Faisal; Al-Rashdi, Fatma; Cazenave-Gassiot, Amaury; Wenk, Markus R.; Al-Salmi, Fatema; Patton, Michael A.; Silver, David L.; Baple, Emma L.; McMaster, Christopher R.; Crosby, Andrew H.A mutation ofEPT1 (SELENOI)underlies a new disorder of Kennedy pathway phospholipid biosynthesisView onlineSchließen
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Published in: Brain
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Salter, Claire G; Cai, Yiying; Lo, Bernice; Helman, Guy; Taylor, Henry; McCartney, Amber; Leslie, Joseph S; Accogli, Andrea; Zara, Federico; Traverso, Monica; Fasham, James; Lees, Joshua A; Ferla, Matteo P; Chioza, Barry A; Wenger, Olivia; Scott, Ethan; Cross, Harold E; Crawford, Joanna; Warshawsky, Ilka; Keisling, Matthew; Agamanolis, Dimitris; Ward Melver, Catherine; Cox, Helen; Elawad, Mamoun; [...]Biallelic PI4KA variants cause neurological, intestinal and immunological diseaseView onlineSchließen
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Published in: Brain
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Saettini, Francesco; Guerra, Fabiola; Mauri, Mario; Fazio, Grazia; Bugarin, Cristina; Quadri, Manuel; Rebellato, Stefano; Chinello, Clizia; Pagani, Lisa; Malighetti, Federica; González Gutiérrez-Solana, Luis; Denti, Vanna; Emam Mousavi, Fatemeh; Raspall-Chaure, Miquell; Andrea, Martin-Nalda; Barredo, Estibaliz; Adams, David; Melanie, O'Leary; D'Souza, Precilla; Macnamara, Ellen; Rosenzweig, Sergio; Kuehn, Hye Sun; Stoddard, Jennifer; Mefford, Heather C; [...]Biallelic PI4KA mutations Disrupt B Cell Mitochondrial Metabolism and Cause HypogammaglobulinemiaView onlineSchließen
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Published in: Blood
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Zawerton, Ash; Mignot, Cyril; Sigafoos, Ashley; Blackburn, Patrick R.; Haseeb, Abdul; McWalter, Kirsty; Ichikawa, Shoji; Nava, Caroline; Keren, Boris; Charles, Perrine; Marey, Isabelle; Tabet, Anne-Claude; Levy, Jonathan; Perrin, Laurence; Hartmann, Andreas; Lesca, Gaetan; Schluth-Bolard, Caroline; Monin, Pauline; Dupuis-Girod, Sophie; Guillen Sacoto, Maria J.; Schnur, Rhonda E.; Zhu, Zehua; Poisson, Alice; El Chehadeh, Salima; [...]Widening of the genetic and clinical spectrum of Lamb–Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiencyView onlineSchließen
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Published in: Genetics in Medicine
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Arrieta, Marie-Claire; Arevalos, Andrea; Stiemsma, Leah; Chico, Marta E.; Sandoval, Carlos; Jin, Minglian; Walter, Jens; Cooper, Phil; Finlay, Brett; Bernatchez, Emilie; Gold, Matthew J.; Langlois, Anick; Blais-Lecours, Pascale; Duchaine, Caroline; Marsolais, David; McNagny, Kelly M.; Blanchet, Marie-Renée; Brubacher, Jordan; Chhetri, Bimal; Sabaliauskas, Kelly; Bassil, Kate; Kwong, Jeff; Coates, Frances; Takaro, Tim K.; [...]AllerGen’s 8th research conferenceView onlineSchließen
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Published in: Allergy, Asthma & Clinical Immunology
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Lindsay, Colin R.; Shaw, Emily C.; Blackhall, Fiona; Blyth, Kevin G.; Brenton, James D.; Chaturvedi, Anshuman; Clarke, Noel; Dick, Craig; Evans, Thomas R.J.; Hall, Geoff; Hanby, Andrew M.; Harrison, David J.; Johnston, Stephen R.D.; Mason, Malcolm D.; Morton, Dion; Newton-Bishop, Julia; Nicholson, Andrew G.; Oien, Karin A.; Popat, Sanjay; Rassl, Doris; Sharpe, Rowena; Taniere, Phillipe; Walker, Ian; Wallace, William A.; [...]Somatic cancer genetics in the UK: real-world data from phase I of the Cancer Research UK Stratified Medicine ProgrammeView onlineSchließen
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Published in: ESMO Open
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Côté, Marie-Ève; Boulay, Marie-Ève; Plante, Sophie; Chakir, Jamila; Boulet, Louis-Philippe; Ahmed, Hanan; Ospina, Maria-Beatriz; Sideri, Kyriaki; Vliagoftis, Harissios; Johnson, Sara F.; Woodgate, Roberta L.; Cros, Guilhem; Teira, Pierre; Cellot, Sonia; Bittencourt, Henrique; Decaluwe, Helene; Vachon, Marie France; Duval, Michel; Haddad, Elie; Kim, Vy H. D.; Pham-Huy, Anne; Grunebaum, Eyal; Oliveria, John-Paul; Phan, Stephanie; [...]Proceedings of the Canadian society of allergy and clinical immunology annual scientific meeting 2015View onlineSchließen
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Published in: Allergy, Asthma & Clinical Immunology
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Abbott, T E F; Greaves, K E; Patel, A; Ahmad, T; Haddow, J; Futier, E; Biais, M; Slim, K; Pearse, R M; Pearse, Rupert M; Beattie, Scott; Clavien, Pierre-Alain; Demartines, Nicolas; Fleisher, Lee A; Grocott, Mike; Haddow, James; Hoeft, Andreas; Holt, Peter; Moreno, Rui; Pritchard, Naomi; Rhodes, Andrew; Wijeysundera, Duminda; Wilson, Matt; Ahmed, Tahania; [...]Prospective observational cohort study on grading the severity of postoperative complications in global surgery researchView onlineSchließen
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Published in: British Journal of Surgery