학술논문
'학술논문'
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1~10
Academic Journal
Hannes, Laurens; Atzori, Marta; Goldenberg, Alice; Argente, Jesús; Attie-Bitach, Tania; Amiel, Jeanne; Attanasio, Catia; Braslavsky, Débora G.; Bruel, Ange-Line; Castanet, Mireille; Dubourg, Christèle; Jacobs, An; Lyonnet, Stanislas; Martinez-Mayer, Julian; Pérez Millán, María Inés; Pezzella, Nunziana; Pelgrims, Elise; Aerden, Mio; Bauters, Marijke; Rochtus, Anne; Scaglia, Paula; Swillen, Ann; Sifrim, Alejandro; Tammaro, Roberta; Mau-Them, Frederic Tran; Odent, Sylvie; Thauvin-Robinet, Christel; Franco, Brunella; Breckpot, Jeroen
In Genetics in Medicine April 2024 26(4)
Academic Journal
Boesch, Markus; Lindhorst, Andreas; Feio-Azevedo, Rita; Brescia, Paola; Silvestri, Alessandra; Lannoo, Matthias; Deleus, Ellen; Jaekers, Joris; Topal, Halit; Topal, Baki; Ostyn, Tessa; Wallays, Marie; Smets, Lena; Van Melkebeke, Lukas; Härtlova, Anetta; Roskams, Tania; Bedossa, Pierre; Verbeek, Jef; Govaere, Olivier; Francque, Sven; Sifrim, Alejandro; Voet, Thierry; Rescigno, Maria; Gericke, Martin; Korf, Hannelie; van der Merwe, Schalk
In Journal of Hepatology March 2024 80(3):397-408
Academic Journal
Wright, Caroline F; Fitzgerald, Tomas W; Jones, Wendy D; Clayton, Stephen; McRae, Jeremy F; van Kogelenberg, Margriet; King, Daniel A; Ambridge, Kirsty; Barrett, Daniel M; Bayzetinova, Tanya; Bevan, A Paul; Bragin, Eugene; Chatzimichali, Eleni A; Gribble, Susan; Jones, Philip; Krishnappa, Netravathi; Mason, Laura E; Miller, Ray; Morley, Katherine I; Parthiban, Vijaya; Prigmore, Elena; Rajan, Diana; Sifrim, Alejandro; Swaminathan, G Jawahar; Tivey, Adrian R; Middleton, Anna; Parker, Michael; Carter, Nigel P; Barrett, Jeffrey C; Hurles, Matthew E; FitzPatrick, David R; Firth, Helen V
In The Lancet 4-10 April 2015 385(9975):1305-1314
Academic Journal
Boesch, Markus; Lindhorst, Andreas; de Azevedo, Rita Furtado Feio; Brescia, Paola; Silvestri, Alessandra; Lannoo, Matthias; Deleus, Ellen; Jaekers, Joris; Topal, Halit; Topal, Baki; Wallays, Marie; Smets, Lena; Van Melkebeke, Lukas; Roskams, Tania; Bedossa, Pierre; Verbeek, Jef; Francque, Sven; Sifrim, Alejandro; Voet, Thierry; Rescigno, Maria; Gericke, Martin; Korf, Hannelie; van der Merwe, Schalk
In Journal of Hepatology June 2023 78 Supplement 1:S753-S754
Academic Journal
Hannes, Laurens; Atzori, Marta; Goldenberg, Alice; Argente, Jesus; Attie-Bitach, Tania; Amiel, Jeanne; Attanasio, Catia; Braslavsky, Debora G.; Bruel, Ange-Line; Castanet, Mireille; Dubourg, Christele; Jacobs, An; Lyonnet, Stanislas; Martinez-Mayer, Julian; Millan, Maria Ines Perez; Pezzella, Nunziana; Pelgrims, Elise; Aerden, Mio; Bauters, Marijke; Rochtus, Anne; Scaglia, Paula; Swillen, Ann; Sifrim, Alejandro; Tammaro, Roberta; Mau-Them, Frederic Tran; Odent, Sylvie; Thauvin-Robinet, Christel; Franco, Brunella; Breckpot, Jeroen
Academic Journal
Bansaccal, Nordin; Vieugue, Pauline; Sarate, Rahul; Song, Yura; Minguijon, Esmeralda; Miroshnikova, Yekaterina A.; Zeuschner, Dagmar; Collin, Amandine; Allard, Justine; Engelman, Dan; Delaunois, Anne-Lise; Liagre, Mélanie; de Groote, Leona; Timmerman, Evy; Van Haver, Delphi; Impens, Francis; Salmon, Isabelle; Wickström, Sara A.; Sifrim, Alejandro; Blanpain, Cédric
Nature; Nov2023, Vol. 623 Issue 7988, p828-835, 8p
Academic Journal
Audain, Enrique; Wilsdon, Anna; Breckpot, Jeroen; Izarzugaza, Jose MG; Fitzgerald, Tomas W.; Kahlert, Anne-Karin; Sifrim, Alejandro; Wünnemann, Florian; Perez-Riverol, Yasset; Abdul-Khaliq, Hashim; Bak, Mads; Bassett, Anne S.; Benson, Woodrow D.; Berger, Felix; Daehnert, Ingo; Devriendt, Koenraad; Dittrich, Sven; Daubeney, Piers EF; Garg, Vidu; Hackmann, Karl
Academic Journal
Lengrand, Justine; Pastushenko, Ievgenia; Vanuytven, Sebastiaan; Song, Yura; Venet, David; Sarate, Rahul M.; Bellina, Melanie; Moers, Virginie; Boinet, Alice; Sifrim, Alejandro; Rama, Nicolas; Ducarouge, Benjamin; Van Herck, Jens; Dubois, Christine; Scozzaro, Samuel; Lemaire, Sophie; Gieskes, Sarah; Bonni, Sophie; Collin, Amandine; Braissand, Nicolas
Nature; Aug2023, Vol. 620 Issue 7973, p402-408, 7p
Academic Journal
Nature Reviews Genetics. 24(8):494-515
Academic Journal
O’Donnell-Luria, Anne H; Pais, Lynn S; Faundes, Víctor; Wood, Jordan C; Sveden, Abigail; Luria, Victor; Jamra, Rami Abou; Accogli, Andrea; Amburgey, Kimberly; Anderlid, Britt Marie; Azzarello-Burri, Silvia; Basinger, Alice A; Bianchini, Claudia; Bird, Lynne M; Buchert, Rebecca; Carre, Wilfrid; Ceulemans, Sophia; Charles, Perrine; Cox, Helen; Culliton, Lisa; Currò, Aurora; Study, Deciphering Developmental Disorders; 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, A Paul; 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; 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
American Journal of Human Genetics. 104(6)
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[AR] Sifrim, Alejandro
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