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Marc Abramowicz

university of geneva

52H指数
359论文数
9.4K被引数
收录论文 75
发表时间
Adult Onset Nephrotic Syndrome and Optic Nerve Atrophy Associated With NUP93 Mutation成人发病的肾病综合征及与NUP93突变相关的视神经萎缩
err2025-09-19
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errMarc Scheen; Grégoire Arnoux; Philippe Khau Van Kien; Thomas Rio Frio; Giorgio Enrico Bravetti; Jean-Louis Blouin; Thomas Ernandez; Solange Moll; Frédéric Masclaux; Sophie De Seigneux; Marc Abramowicz; Fadi Haidar
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Prenatal Diagnosis of MSL2-Related Ventriculomegaly in Association With an Inherited 15q13 MicroduplicationMSL2相关脑室扩张的产前诊断及其与遗传性15q13微重复的相关性
err2025-09-15
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errOmar Zgheib; Thomas Rio Frio; Jean-Marie Pellegrinelli; Stefania Gimelli; Caterina Marconi; Delphine Le Mercier; Monica Rebollo Polo; Céline Habre; Joël Fluss; Russia Ha-Vinh Leuchter; Marc Abramowicz; Rosalinda Giannini; Siv Fokstuen
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Recurrent de novo variants in the spliceosomal factor CRNKL1 are associated with severe microcephaly and pontocerebellar hypoplasia with seizuresCRNKL1剪接体因子的复发性新发变异与严重小头畸形及伴癫痫的脑桥小脑发育不全相关
err2025-06-18
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PREAI
errSankalita Ray Das; Rosie Sullivan; Mischa S.G. Ruegg; Julia Horsfield; Jordan Doran; Gemma Poke; Nathalie de Vries; Sarah Duerinckx; Damien Lederer; Muzhirah Haniffa; Wee-Teik Keng; Gaik-Siew Ch’ng; David A. Parry; Andrew P. Jackson; Masamune Sakamoto; Naomichi Matsumoto; Noriko Miyake; Shin Nabatame; Hidetoshi Taniguchi; Emma Wakeling; Katrin Õunap; Pilvi Ilves; Ghayda Mirzaa; Andrew Timms; Emily Pao; Kimberly A. Aldinger; William Dobyns; Axel Bohring; Beate Behre; Daniel G. Calame; James R. Lupski; Juan M. Pascual; Marc Abramowicz; Gregory Gimenez; Louise S. Bicknell
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Resilience in Alzheimer's disease: Impact of operationalization and methodological choices阿尔茨海默病中的韧性:操作化和方法选择的影响
err2025-04-28
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errOAAI
errMutel, S; Quatrocchi, L; Altomare, D; Chicherio, C; Scheffler, M; Loevblad, KO; Blennow, K; Ashton, NJ; Zetterberg, H; Abramowicz, M; Blouin, JL; Wang, C; Wyss-Dominguez, C; Mendes, AJ; Garibotto, V; Frisoni, G; Ribaldi, F
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Collagen IV deficiency causes hypertrophic remodeling and endothelium-dependent hyperpolarization in small vessel disease with intracerebral hemorrhage
err2024-09-01
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errMcNeilly, Sarah; Thomson, Cameron R.; Gonzalez-Trueba, Laura; Sin, Yuan Yan; Granata, Alessandra; Hamilton, Graham; Lee, Michelle; Boland, Erin; McClure, John D.; Lumbreras-Perales, Cristina; Aman, Alisha; Kumar, Apoorva A.; Cantini, Marco; Gok, Caglar; Graham, Delyth; Tomono, Yasuko; Anderson, Christopher D.; Lu, Yinhui; Smith, Colin; Markus, Hugh S.; Abramowicz, Marc; Vilain, Catheline; Salman, Rustam Al-Shahi; Salmeron-Sanchez, Manuel; Hainsworth, Atticus H.; Fuller, William; Kadler, Karl E.; Bulleid, Neil J.; Van Agtmael, Tom
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SwissGenVar: A Platform for Clinical-Grade Interpretation of Genetic Variants to Foster Personalized Healthcare in SwitzerlandSwissGenVar: 一个用于遗传变异临床级解释的平台,以促进瑞士的个性化医疗保健
err2024-06-17
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errKraemer, Dennis; Terumalai, Dillenn; Famiglietti, Maria Livia; Filges, Isabel; Joset, Pascal; Koller, Samuel; Maurer, Fabienne; Meier, Stephanie; Nouspikel, Thierry; Sanz, Javier; Zweier, Christiane; Abramowicz, Marc; Berger, Wolfgang; Cichon, Sven; Schaller, Andre; Superti-Furga, Andrea; Barbie, Valerie; Rauch, Anita
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Comparison of plasma and neuroimaging biomarkers to predict cognitive decline in non-demented memory clinic patients
err2024-05-16
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errMendes, Augusto J.; Ribaldi, Federica; Lathuiliere, Aurelien; Ashton, Nicholas J.; Zetterberg, Henrik; Abramowicz, Marc; Scheffler, Max; Assal, Frederic; Garibotto, Valentina; Blennow, Kaj; Frisoni, Giovanni B.
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Enhancing fetal outcomes in GCK-MODY pregnancies: a precision medicine approach via non-invasive prenatal GCK mutation detection
err2024-04-30
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errSchwitzgebel, Valerie M.; Blouin, Jean-Louis; Dehos, Barbara; Kohler-Ballan, Bettina; Puder, Jardena J.; Rieubland, Claudine; Triantafyllidou, Maria; Zanchi, Anne; Abramowicz, Marc; Nouspikel, Thierry
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A novel human iPSC model of COL4A1/A2 small vessel disease unveils a key pathogenic role of matrix metalloproteinases
err2023-12-01
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errAl-Thani, Maha; Goodwin-Trotman, Mary; Bell, Steven; Patel, Krushangi; Fleming, Lauren K.; Vilain, Catheline; Abramowicz, Marc; Allan, Stuart M.; Wang, Tao; Cader, M. Zameel; Horsburgh, Karen; Van Agtmael, Tom; Sinha, Sanjay; Markus, Hugh S.; Granata, Alessandra
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Novel transcriptomic signatures associated with premature kidney allograft failure
err2023-10-01
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errHruba, Petra; Klema, Jiri; Le, Anh Vu; Girmanova, Eva; Mrazova, Petra; Massart, Annick; Maixnerova, Dita; Voska, Ludek; Piredda, Gian Benedetto; Biancone, Luigi; Puga, Ana Ramirez; Seyahi, Nurhan; Sever, Mehmet Sukru; Weekers, Laurent; Muhfeld, Anja; Budde, Klemens; Watschinger, Bruno; Miglinas, Marius; Zahradka, Ivan; Abramowicz, Marc; Abramowicz, Daniel; Viklicky, Ondrej
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A peripheral signature of Alzheimer's disease featuring microbiota-gut-brain axis markers具有微生物群-肠-脑轴标记的阿尔茨海默病的外围特征
err2023-05-31
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errMarizzoni, Moira; Mirabelli, Peppino; Mombelli, Elisa; Coppola, Luigi; Festari, Cristina; Lopizzo, Nicola; Luongo, Delia; Mazzelli, Monica; Naviglio, Daniele; Blouin, Jean-Louis; Abramowicz, Marc; Salvatore, Marco; Pievani, Michela; Cattaneo, Annamaria; Frisoni, Giovanni B.
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Congenital hydrocephalus: new Mendelian mutations and evidence for oligogenic inheritance
err2023-03-02
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errJacquemin, Valerie; Versbraegen, Nassim; Duerinckx, Sarah; Massart, Annick; Soblet, Julie; Perazzolo, Camille; Deconinck, Nicolas; Brischoux-Boucher, Elise; De Leener, Anne; Revencu, Nicole; Janssens, Sandra; Moorgat, Stephanie; Blaumeiser, Bettina; Avela, Kristiina; Touraine, Renaud; Abou Jaoude, Imad; Keymolen, Kathelijn; Saugier-Veber, Pascale; Lenaerts, Tom; Abramowicz, Marc; Pirson, Isabelle
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Dementia prevention in memory clinics: recommendations from the European task force for brain health services
err2023-03-01
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errFrisoni, Giovanni B.; Altomare, Daniele; Ribaldi, Federica; Villain, Nicolas; Brayne, Carol; Mukadam, Naaheed; Abramowicz, Marc; Barkhof, Frederik; Berthier, Marcelo; Bieler-Aeschlimann, Melanie; Blennow, Kaj; Guevara, Andrea Brioschi; Carrera, Emmanuel; Chetelat, Gael; Csajka, Chantal; Demonet, Jean-Francois; Dodich, Alessandra; Garibotto, Valentina; Georges, Jean; Hurst, Samia; Jessen, Frank; Kivipelto, Miia; Llewellyn, David J.; McWhirter, Laura; Milne, Richard; Minguillon, Carolina; Miniussi, Carlo; LuisMolinuevo, Jose; Nilsson, Peter M.; Noyce, Alastair; Ranson, Janice M.; Grau-Rivera, Oriol; Schott, Jonathan M.; Solomon, Alina; Stephen, Ruth; van der Flier, Wiesje; van Duijn, Cornelia; Vellas, Bruno; Visser, Leonie N. C.; Cummings, Jeffrey L.; Scheltens, Philip; Ritchie, Craig; Dubois, Bruno
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Implementation of Fetal Clinical Exome Sequencing: Comparing Prospective and Retrospective Cohorts
err2022-08-01
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errMarangoni, Martina; Smits, Guillaume; Ceysens, Gilles; Costa, Elena; Coulon, Robert; Daelemans, Caroline; De Coninck, Caroline; Derisbourg, Sara; Gajewska, Kalina; Garofalo, Giulia; Gounongbe, Caroline; Guizani, Meriem; Holoye, Anne; Houba, Catherine; Makhoul, Jean; Norgaard, Christian; Regnard, Cecile; Romee, Stephanie; Soto, Jamil; Stagel-Trabbia, Aurore; Van Rysselberge, Michel; Vercoutere, An; Zaytouni, Siham; Bouri, Sarah; D'Haene, Nicky; D'Onle, Dominique; Dugauquier, Christian; Racu, Marie-Lucie; Rocq, Laureen; Segers, Valerie; Verocq, Camille; Avni, Ephraim Freddy; Cassart, Marie; Massez, Anne; Blaumeiser, Bettina; Brischoux-Boucher, Elise; Bulk, Saskia; De Ravel, Thomy; Debray, Guillaume; Dimitrov, Boyan; Janssens, Sandra; Keymolen, Kathelijn; Laterre, Marie; van Berkel, Kim; Van Maldergem, Lionel; Vandernoot, Isabelle; Vilain, Catheline; Donner, Catherine; Tecco, Laura; Thomas, Dominique; Desir, Julie; Abramowicz, Marc; Migeotte, Isabelle
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Implementation of fetal clinical exome sequencing: Comparing prospective and retrospective cohorts胎儿临床外显子组测序的实施: 前瞻性和回顾性队列的比较
err2022-02-01
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errMarangoni, Martina; Smits, Guillaume; Ceysens, Gilles; Costa, Elena; Coulon, Robert; Daelemans, Caroline; De Coninck, Caroline; Derisbourg, Sara; Gajewska, Kalina; Garofalo, Giulia; Gounongbe, Caroline; Guizani, Meriem; Holoye, Anne; Houba, Catherine; Makhoul, Jean; Norgaard, Christian; Regnard, Cecile; Romee, Stephanie; Soto, Jamil; Stagel-Trabbia, Aurore; Van Rysselberge, Michel; Vercoutere, An; Zaytouni, Siham; Bouri, Sarah; D'Haene, Nicky; D'Onle, Dominique; Dugauquier, Christian; Racu, Marie-Lucie; Rocq, Laureen; Segers, Valerie; Verocq, Camille; Avni, Ephraim Freddy; Cassart, Marie; Massez, Anne; Blaumeiser, Bettina; Brischoux-Boucher, Elise; Bulk, Saskia; De Ravel, Thomy; Debray, Guillaume; Dimitrov, Boyan; Janssens, Sandra; Keymolen, Kathelijn; Laterre, Marie; van Berkel, Kim; Van Maldergem, Lionel; Vandernoot, Isabelle; Vilain, Catheline; Donner, Catherine; Tecco, Laura; Thomas, Dominique; Desir, Julie; Abramowicz, Marc; Migeotte, Isabelle
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Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder
err2021-11-01
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errCourraud, Jeremie; Chater-Diehl, Eric; Durand, Benjamin; Vincent, Marie; del Mar Muniz Moreno, Maria; Boujelbene, Imene; Drouot, Nathalie; Genschik, Loreline; Schaefer, Elise; Nizon, Mathilde; Gerard, Benedicte; Abramowicz, Marc; Cogne, Benjamin; Bronicki, Lucas; Burglen, Lydie; Barth, Magalie; Charles, Perrine; Colin, Estelle; Coubes, Christine; David, Albert; Delobel, Bruno; Demurger, Florence; Passemard, Sandrine; Denomme, Anne-Sophie; Faivre, Laurence; Feger, Claire; Fradin, Melanie; Francannet, Christine; Genevieve, David; Goldenberg, Alice; Guerrot, Anne-Marie; Isidor, Bertrand; Johannesen, Katrine M.; Keren, Boris; Kibaek, Maria; Kuentz, Paul; Mathieu-Dramard, Michele; Demeer, Benedicte; Metreau, Julia; Steensbjerre Moller, Rikke; Moutton, Sebastien; Pasquier, Laurent; Pilekaer Sorensen, Kristina; Perrin, Laurence; Renaud, Mathilde; Saugier, Pascale; Rio, Marlene; Svane, Joane; Thevenon, Julien; Tran Mau Them, Frederic; Tronhjem, Cathrine Elisabeth; Vitobello, Antonio; Layet, Valerie; Auvin, Stephane; Khachnaoui, Khaoula; Birling, Marie-Christine; Drunat, Severine; Bayat, Allan; Dubourg, Christele; El Chehadeh, Salima; Fagerberg, Christina; Mignot, Cyril; Guipponi, Michel; Bienvenu, Thierry; Herault, Yann; Thompson, Julie; Willems, Marjolaine; Mandel, Jean-Louis; Weksberg, Rosanna; Piton, Amelie
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Dementia risk communication. A user manual for Brain Health Services-part 3 of 6
err2021-10-11
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errVisser, Leonie N. C.; Minguillon, Carolina; Sanchez-Benavides, Gonzalo; Abramowicz, Marc; Altomare, Daniele; Fauria, Karine; Frisoni, Giovanni B.; Georges, Jean; Ribaldi, Federica; Scheltens, Philip; van der Schaar, Jetske; Zwan, Marissa; van der Flier, Wiesje M.; Molinuevo, Jose Luis
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Molecular characterization of pathogenic OTOA gene conversions in hearing loss patients
err2021-03-14
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errLaurent, Sacha; Gehrig, Corinne; Nouspikel, Thierry; Amr, Sami S.; Oza, Andrea; Murphy, Elissa; Vannier, Anne; Bena, Frederique Sloan; Carminho-Rodrigues, Maria Teresa; Blouin, Jean-Louis; Cao Van, Helene; Abramowicz, Marc; Paoloni-Giacobino, Ariane; Guipponi, Michel
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