학술논문
'학술논문'
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1~10
Academic Journal
Attié-Bitach, Tania; Comier-Daire, Valerie; Rozet, Jean-Michel; Frishberg, Yaacov; Llanas, Brigitte; Broyer, Michel; Mohsin, Nabil; Macher, Marie-Alice; Philip, Nicole; Baudouin, Véronique; Brackman, Damian; Loirat, Chantal; Charbit, Marina; Dehennault, Maud; Guyot, Claude; Bataille, Pierre; Elting, Mariet; Deschenes, Georges; Gropman, Andrea; Guest, Geneviève; Gagnadoux, Marie-France; Nicoud, Philippe; Cochat, Pierre; Ranchin, Bruno; Bensman, Albert; Guerrot, Anne-Marie; Knebelmann, Bertrand; Bilge, Ilmay; Bruno, Danièle; Burtey, Stéphane; Rouvière, Caroline Rousset; Caudwell, Valérie; Morin, Denis; Dollfus, Hélène; Maisin, Anne; Hamel, Christian; Bieth, Eric; Gie, Sophie; Goodship, Judith; Roussey, Gwenaelle; La Selve, Hermine; Nivet, Hubert; Bessenay, Lucie; Caillez, Mathilde; Palcoux, Jean Bernard; Benoît, Stéphane; Dubot, Philippe; Fila, Marc; Giuliano, Fabienne; Iftene, Daouya; Kessler, Michele; Kwon, Theresa; Lahoche, Anine; Laurent, Audrey; Leclerc, Anne-Laure; Milford, David; Neuhaus, Thomas; Odent, Sylvie; Eckart, Philippe; Chauveau, Dominique; Niaudet, Patrick; Repetto, Horacio; Taque, Sophie; Bruel, Alexandra; Noel-Botte, Alexandra; Launay, Emma Allain; Allard, Lisa; Anlicheau, Dany; Adra, Anne-Laure; Garnier, Arnaud; Nagra, Arvind; Baatard, Remy; Bacchetta, Justine; Sadikoglu, Banu; Barnerias, Christine; Barthelemy, Anne; Basel, Lina; Bassilios, Nader; Ben Maiz, Hedi; Ben Moussa, Fatma; Benmati, Faïza; Berthaud, Romain; Bertholet, Aurélia; Blanchier, Dominique; Boffa, Jean Jacques; Bouchireb, Karim; Bouhabel, Ihab; Boukerroucha, Zakaria; Bourdat-Michel, Guylhène; Boute, Odile; Brochard, Karine; Caumes, Roseline; Elalaoui, Siham Chafai; Chamontin, Bernard; Chastang, Marie Caroline; Pietrement, Christine; Richer, Christine; Legendre, Christophe; Dahan, Karin; Dalla-Vale, Fabienne; Thibaudin, Damien; Dauvergne, Maxime; Davourie, Salandre; Debeukelaer, Martin; Delbet, Jean Daniel; Deltas, Constantinos; Graber, Denis; Devillars, Nadège; Diouf, Boucar; Fenzy, Martine Doco; André, Jean-Luc; Joly, Dominique; Fryer, Alan; Albano, Laetitia; Cassuto, Elisabeth; Pincon, Aline; Medeira, Ana; Chaussenot, Annabelle; Mensire-Marinier, Anne; Bouissou, Francois; Decramer, Stephane; Bottani, Armand; Hummel, Aurélie; Karras, Alexandre; Katz, Avi; Azema, Christine; Janbon, Bénédicte; Roussel, Bernard; Bonniol, Claude; Mariat, Christiophe; Champion, Gérard; Chantreuil, Deborah; Chassaing, Nicolas; Mousson, Christiane; Baudeau, Christine; Cuntz, Delphine Hafdar; Mignot, Cyril; Dehoux, Laurene; Lacombe, Didier; Hannedouche, Thierry; Mérieau, Elodie; Charlin, Emmanuelle; Gauthier, Eric; Plasse, Florent; Faguer, Stanislas; Lebas, Fanny; Demurger, Florence; Emma, Francesco; Cartault, François; Dumont, Geneviève; Godefroid, Nathalie; Guigonis, Vincent; Hillaire, Sophie; Groothoff, Jaap; Dudley, Jan; Jourde-Chiche, Noémie; El Karoui, Khalil; Krid, Saoussen; Coudert, Krier; Bencheick, Larbi; Yver, Laurent; Lavocat, Marie-Pierre; De Sagazan, Le Monies; Leroy, Valerie; Thibaudin, Lise; Ingulli, Liz; Gwanmesia, Lorraine; Burglen, Lydie; Saïd-Menthon, Marie-Hélène; Carrera, Marta; Nizon, Mathilde; Melander, Catherine; Foulard, Michel; Blayo, Monique; Prinseau, Jacques; Jay, Nadine; Brun, Nathalie; Camille, Nicolas; Nobili, François; Devuyst, Olivier; Ben Brahim, Ouafa; Parvex, Paloma; Sabourin, Laurence Perrin; Blanc, Philippe; Vanhille, Philippe; Galichon, Pierre; Pierrepont, Sophie; Planquois, Vincent; Poussard, Gwenaelle; Noble, Claire Pouteil; Allal, Radia; Bernard, Raphaelle; Mounet, Raynaud; Cahen, Rémi; Touraine, Renaud; Rigothier, Claire; Ryckewaert, Amélie; Sacquepee, Mathieu; El Chehadeh, Salima; Samaille, Charlotte; Haq, Shuman; Simckes, Ari; Lanoiselée, Stéphanie; Tellier, Stephanie; Subra, Jean-François; Cloarec, Sylvie; Tenenbam, Julie; Lamy, Thomas; Garraud, Valérie Drouin; Valette, Huguette; Meyssonnier, Vanina; Vargas-Poussou, Rosa; Snajer, Yves; Durault, Sandrine; Plaisier, Emmanuelle; Berard, Etienne; Fakhouri, Fadi; Louillet, Ferielle; Finielz, Paul; Fischbach, Michel; Foliguet, Bernard; Francois-Pradier, Hélène; Garaix, Florentine; Gerard, Marion; Rizzoni, Gianfranco; Gilbert, Brigitte; Glotz, Denis; Dubrasquet, Astrid Godron; Grünfeld, Jean-Pierre; Bollee, Guillaume; Hall, Michelle; Hansson, Sverker; Haye, Damien; Taffin, Hélène; Hildebrandt, Friedhelm; Hourmand, Maryvonne; Kayserili, Hümya; Tack, Ivan; Jacquemont, Marie Line; Fabre-Teste, Jennifer; Kashtan, Cliff; Van Hoeck, Kkoen; Klein, Alexandre; Knefati, Yannick; Knoers, Nine; Konrad, Martin; Lachaux, Alain; Landru, Isabelle; Landthaler, Gilbert; Lang, Philippe; Le Pogamp, Patrick; Legris, Tristan; Didailler, Catherine; Lobbedez, Thierry; de Parscau, Loïc; Pinson, Lucile; Maheut, Hervé; Duval-Arnould, Marc; Rio, Marlène; Gubler, Marie-Claire; Merville, Pierre; Mestrallet, Guillaume; Meunier, Maite; Moreau, Karine; Harambat, Jérôme; Morgan, Graeme; Mourad, Georges; Stuber, Niksic; Boespflug-Tanguy, Odile; Dunand, Olivier; Niel, Olivier; Ouali, Nacera; Malvezzi, Paolo; Jaoude, Pauline Abou; Pelletier, Solenne; Peltier, Julie; Petersen, M.B.; Michel, Philippe; Rémy, Philippe; Philit, Jean-Baptiste; Pichault, Valérie; Billette de Villemeur, Thierry; Boudailliez, Bernard; Leheup, Bruno; Dossier, Claire; Djeddi, Djamal-Dine; Berland, Yves; Hurault de Ligny, Bruno; Rigden, Susan; Robino, Christophe; Rossi, Annick; Sarnacki, Sabine; Saidani, Messaoud; Sartorius, Albane Brodin; Schäfer, Elise; Laszlo, Sztriha; Thouret, Marie-Christine; Thuillier-Lecouf, Angélique; Trachtman, Howard; Trivin, Claire; Tsimaratos, Michel; Van Damme-Lombaerts, Rita; Willems, Marjolaine; Youssef, Michel; Zaloszyc, Ariane; Zawodnik, Alexis; Ziliotis, Marie-Julia; Petzold, Friederike; Billot, Katy; Chen, Xiaoyi; Henry, Charline; Filhol, Emilie; Martin, Yoann; Avramescu, Marina; Douillet, Maxime; Morinière, Vincent; Krug, Pauline; Jeanpierre, Cécile; Tory, Kalman; Boyer, Olivia; Burgun, Anita; Servais, Aude; Salomon, Remi; Benmerah, Alexandre; Heidet, Laurence; Garcelon, Nicolas; Antignac, Corinne; Zaidan, Mohamad; Saunier, Sophie
In Kidney International August 2023 104(2):378-387
Academic Journal
Thomson, Kate L.; Ormondroyd, Elizabeth; Harper, Andrew R.; Dent, Tim; McGuire, Karen; Baksi, John; Blair, Edward; Brennan, Paul; Buchan, Rachel; Bueser, Teofila; Campbell, Carolyn; Carr-White, Gerald; Cook, Stuart; Daniels, Matthew; Deevi, Sri V. V.; Goodship, Judith; Hayesmoore, Jesse B. G; Henderson, Alex; Lamb, Teresa; Prasad, Sanjay; Rayner-Matthews, Paula; Robert, Leema; Sneddon, Linda; Stark, Hannah; Walsh, Roddy; Ware, James S.; Farrall, Martin; Watkins, Hugh C.; NIHR BioResource – Rare Diseases Consortium
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 21(7):1576-1584
Academic Journal
Richards, Anna; Kemp, Elizabeth J.; Liszewski, M. Kathryn; Goodship, Judith A.; Lampe, Anne K.; Decorte, Ronny; Müslümanoǧglu, M. Hamza; Kavukcu, Salih; Filler, Guido; Pirson, Yves; Wen, Leana S.; Atkinson, John P.
Proceedings of the National Academy of Sciences of the United States of America, 2003 Oct . 100(22), 12966-12971.
Genotype/Phenotype Correlations in Complement Factor H Deficiency Arising From Uniparental Isodisomy
Academic Journal
Wilson, Valerie; Darlay, Rebecca; Wong, William; Wood, Katrina M.; McFarlane, Jeannette; Schejbel, Lone; Schmidt, Ida M.; Harris, Claire L.; Tellez, James; Hunze, Eva-Maria; Marchbank, Kevin; Goodship, Judith A.; Goodship, Timothy H.J.
In American Journal of Kidney Diseases November 2013 62(5):978-983
Dissertation/ Thesis
Academic Journal
Sifrim, Alejandro; Hitz, Marc-Phillip; Wilsdon, Anna; Breckpot, Jeroen; Turki, Saeed H Al; Thienpont, Bernard; McRae, Jeremy; Fitzgerald, Tomas W; Singh, Tarjinder; Swaminathan, Ganesh Jawahar; Prigmore, Elena; Rajan, Diana; Abdul-Khaliq, Hashim; Banka, Siddharth; Bauer, Ulrike M M; Bentham, Jamie; Berger, Felix; Bhattacharya, Shoumo; Bu'Lock, Frances; Canham, Natalie; Colgiu, Irina-Gabriela; Cosgrove, Catherine; Cox, Helen; Daehnert, Ingo; Daly, Allan; Danesh, John; Fryer, Alan; Gewillig, Marc; Hobson, Emma; Hoff, Kirstin; Homfray, Tessa; Kahlert, Anne-Karin; Ketley, Ami; Kramer, Hans-Heiner; Lachlan, Katherine; Lampe, Anne Katrin; Louw, Jacoba J; Manickara, Ashok Kumar; Manase, Dorin; McCarthy, Karen P; Metcalfe, Kay; Moore, Carmel; Newbury-Ecob, Ruth; Omer, Seham Osman; Ouwehand, Willem H; Park, Soo-Mi; Parker, Michael J; Pickardt, Thomas; Pollard, Martin O; Robert, Leema; Roberts, David J; Sambrook, Jennifer; Setchfield, Kerry; Stiller, Brigitte; Thornborough, Chris; Toka, Okan; Watkins, Hugh; Williams, Denise; Wright, Michael; Mital, Seema; Daubeney, Piers E F; Keavney, Bernard; Goodship, Judith; Abu-Sulaiman, Riyadh Mahdi; Klaassen, Sabine; Wright, Caroline F; Firth, Helen V; Barrett, Jeffrey C; Devriendt, Koenraad; FitzPatrick, David R; Brook, J David; Hurles, Matthew E
Nature Genetics. September 2016, Vol. 48 Issue 9, p1060, 6 p.
Academic Journal
McRae, Jeremy F.; Clayton, Stephen; Fitzgerald, Tomas W.; Kaplanis, Joanna; Prigmore, Elena; Rajan, Diana; Sifrim, Alejandro; Aitken, Stuart; Akawi, Nadia; Alvi, Mohsan; Ambridge, Kirsty; Barrett, Daniel M.; Bayzetinova, Tanya; Jones, Philip; Jones, Wendy D.; King, Daniel; Krishnappa, Netravathi; Mason, Laura E.; Singh, Tarjinder; Tivey, Adrian R.; Ahmed, Munaza; Anjum, Uruj; Archer, Hayley; Armstrong, Ruth; Awada, Jana; Balasubramanian, Meena; Banka, Siddharth; Baralle, Diana; Barnicoat, Angela; Batstone, Paul; Baty, David; Bennett, Chris; Berg, Jonathan; Bernhard, Birgitta; Bevan, Paul A.; Bitner-Glindzicz, Maria; Blair, Edward; Blyth, Moira; Bohanna, David; Bourdon, Louise; Bourn, David; Bradley, Lisa; Brady, Angela; Brent, Simon; Brewer, Carole; Brunstrom, Kate; Bunyan, David J.; Burn, John; Canham, Natalie; Castle, Bruce; Chandler, Kate; Chatzimichali, Elena; Cilliers, Deirdre; Clarke, Angus; Clasper, Susan; Clayton-Smith, Jill; Clowes, Virginia; Coates, Andrea; Cole, Trevor; Colgiu, Irina; Collins, Amanda; Collinson, Morag N.; Connell, Fiona; Cooper, Nicola; Cox, Helen; Cresswell, Lara; Cross, Gareth; Crow, Yanick; D’Alessandro, Mariella; Dabir, Tabib; Davidson, Rosemarie; Davies, Sally; de Vries, Dylan; Dean, John; Deshpande, Charu; Devlin, Gemma; Dixit, Abhijit; Dobbie, Angus; Donaldson, Alan; Donnai, Dian; Donnelly, Deirdre; Donnelly, Carina; Douglas, Angela; Douzgou, Sofia; Duncan, Alexis; Eason, Jacqueline; Ellard, Sian; Ellis, Ian; Elmslie, Frances; Evans, Karenza; Everest, Sarah; Fendick, Tina; Fisher, Richard; Flinter, Frances; Foulds, Nicola; Fry, Andrew; Fryer, Alan; Gardiner, Carol; Gaunt, Lorraine; Ghali, Neeti; Gibbons, Richard; Gill, Harinder; Goodship, Judith; Goudie, David; Gray, Emma; Green, Andrew; Greene, Philip; Greenhalgh, Lynn; Gribble, Susan; Harrison, Rachel; Harrison, Lucy; Harrison, Victoria; Hawkins, Rose; He, Liu; Hellens, Stephen; Henderson, Alex; Hewitt, Sarah; Hildyard, Lucy; Hobson, Emma; Holden, Simon; Holder, Muriel; Holder, Susan; Hollingsworth, Georgina; Homfray, Tessa; Humphreys, Mervyn; Hurst, Jane; Hutton, Ben; Ingram, Stuart; Irving, Melita; Islam, Lily; Jackson, Andrew; Jarvis, Joanna; Jenkins, Lucy; Johnson, Diana; Jones, Elizabeth; Josifova, Dragana; Joss, Shelagh; Kaemba, Beckie; Kazembe, Sandra; Kelsell, Rosemary; Kerr, Bronwyn; Kingston, Helen; Kini, Usha; Kinning, Esther; Kirby, Gail; Kirk, Claire; Kivuva, Emma; Kraus, Alison; Kumar, Dhavendra; Ajith Kumar, V. K.; Lachlan, Katherine; Lam, Wayne; Lampe, Anne; Langman, Caroline; Lees, Melissa; Lim, Derek; Longman, Cheryl; Lowther, Gordon; Lynch, Sally A.; Magee, Alex; Maher, Eddy; Male, Alison; Mansour, Sahar; Marks, Karen; Martin, Katherine; Maye, Una; McCann, Emma; McConnell, Vivienne; McEntagart, Meriel; McGowan, Ruth; McKay, Kirsten; McKee, Shane; McMullan, Dominic J.; McNerlan, Susan; McWilliam, Catherine; Mehta, Sarju; Metcalfe, Kay; Middleton, Anna; Miedzybrodzka, Zosia; Miles, Emma; Mohammed, Shehla; Montgomery, Tara; Moore, David; Morgan, Sian; Morton, Jenny; Mugalaasi, Hood; Murday, Victoria; Murphy, Helen; Naik, Swati; Nemeth, Andrea; Nevitt, Louise; Newbury-Ecob, Ruth; Norman, Andrew; O’Shea, Rosie; Ogilvie, Caroline; Ong, Kai-Ren; Park, Soo-Mi; Parker, Michael J.; Patel, Chirag; Paterson, Joan; Payne, Stewart; Perrett, Daniel; Phipps, Julie; Pilz, Daniela T.; Pollard, Martin; Pottinger, Caroline; Poulton, Joanna; Pratt, Norman; Prescott, Katrina; Price, Sue; Pridham, Abigail; Procter, Annie; Purnell, Hellen; Quarrell, Oliver; Ragge, Nicola; Rahbari, Raheleh; Randall, Josh; Rankin, Julia; Raymond, Lucy; Rice, Debbie; Robert, Leema; Roberts, Eileen; Roberts, Jonathan; Roberts, Paul; Roberts, Gillian; Ross, Alison; Rosser, Elisabeth; Saggar, Anand; Samant, Shalaka; Sampson, Julian; Sandford, Richard; Sarkar, Ajoy; Schweiger, Susann; Scott, Richard; Scurr, Ingrid; Selby, Ann; Seller, Anneke; Sequeira, Cheryl; Shannon, Nora; Sharif, Saba; Shaw-Smith, Charles; Shearing, Emma; Shears, Debbie; Sheridan, Eamonn; Simonic, Ingrid; Singzon, Roldan; Skitt, Zara; Smith, Audrey; Smith, Kath; Smithson, Sarah; Sneddon, Linda; Splitt, Miranda; Squires, Miranda; Stewart, Fiona; Stewart, Helen; Straub, Volker; Suri, Mohnish; Sutton, Vivienne; Swaminathan, Ganesh Jawahar; Sweeney, Elizabeth; Tatton-Brown, Kate; Taylor, Cat; Taylor, Rohan; Tein, Mark; Temple, Karen I.; Thomson, Jenny; Tischkowitz, Marc; Tomkins, Susan; Torokwa, Audrey; Treacy, Becky; Turner, Claire; Turnpenny, Peter; Tysoe, Carolyn; Vandersteen, Anthony; Varghese, Vinod; Vasudevan, Pradeep; Vijayarangakannan, Parthiban; Vogt, Julie; Wakeling, Emma; Wallwark, Sarah; Waters, Jonathon; Weber, Astrid; Wellesley, Diana; Whiteford, Margo; Widaa, Sara; Wilcox, Sarah; Wilkinson, Emily; Williams, Denise; Williams, Nicola; Wilson, Louise; Woods, Geoff; Wragg, Christopher; Wright, Michael; Yates, Laura; Yau, Michael; Nellåker, Chris; Parker, Michael; Firth, Helen V.; Wright, Caroline F.; FitzPatrick, David R.; Barrett, Jeffrey C.; Hurles, Matthew E.
Nature. Feb 23, 2017 542(7642):433-438
Academic Journal
Pacheco, María; Valencia, María; Caparrós-Martín, José A.; Mulero, Francisca; Goodship, Judith A.; Ruiz-Perez, Victor L.
In Bone January 2012 50(1):28-41
Characterization of mutations in complement factor I (CFI) associated with hemolytic uremic syndrome
Academic Journal
Kavanagh, David; Richards, Anna; Noris, Marina; Hauhart, Richard; Liszewski, M. Kathryn; Karpman, Diana; Goodship, Judith A.; Fremeaux-Bacchi, Veronique; Remuzzi, Giuseppe; Goodship, Timothy H.J.; Atkinson, John P.
In Molecular Immunology January 2008 45(1):95-105
Academic Journal
Sansbury, Francis H; Cordell, Heather J; Bingham, Coralie; Bromilow, Gilly; Nicholls, Anthony; Powell, Roy; Shields, Bev; Smyth, Lucy; Warwicker, Paul; Strain, Lisa; Wilson, Valerie; Goodship, Judith A; Goodship, Timothy H J; Turnpenny, Peter D
Journal of Medical Genetics. Nov 01, 2014 51(11):756-764
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