학술논문
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'학술논문'
에서 검색결과 194건 | 목록
1~20
Academic Journal
Oegema, Renske; Ghosh, Sourav; Scammahorn, Sharon; Tessadori, Federico; Alders, Marielle; Askholm, Sebastian; Henneman, Peter; van der Laan, Liselot; Sadikovic, Bekim; Bicknell, Louise; van Haaften, Gijs; H4 Consortium
Academic Journal
Ciapaite, Jolita; Albersen, Monique; Savelberg, Sanne M. C.; Bosma, Marjolein; Meijer, Nils W. F.; Tessadori, Federico; Bakkers, Jeroen P. W.; van Haaften, Gijs; Jans, Judith J.; Verhoeven-Duif, Nanda M.
International Journal of Molecular Sciences. April, 2025, Vol. 26 Issue 7
Academic Journal
Claus, Laura R.; Snoek, Rozemarijn; Faber, Siebren; Roskothen-Shevchuk, Aurelius J. C.; Garvi, Elena Sendino; Peters, Edith D. J.; Savelberg, Sanne M. C.; Duran, Karen; van der Zwaag, Bert; Nguyen, Tri Q.; Broekhuizen, Roel; Brummelhuis, Walter J.; Rookmaaker, Maarten; van der Veen, Suzanne W.; Elferink, Martin G.; Karras, Alexandre; Raymond, Laure; Mousseaux, Cyril; Sadeghi-Alavijeh, Omid; Sayer, John A.; Olinger, Eric; Neatu, Ruxandra; Klambt, Verena; Stokman, Marijn F.; Knoers, Nine V. A. M.; Tessadori, Federico; Gale, Daniel P.; Boldt, Karsten; Ueffing, Marius; Slaats, Gisela G.; Roepman, Ronald; Hildebrandt, Friedhelm; Mesnard, Laurent; van Haaften, Gijs; van Eerde, Albertien M.
Academic Journal
Tessadori, Federico; Duran, Karen; Knapp, Karen; Fellner, Matthias; Deciphering Developmental Disorders Study; Smithson, Sarah; Beleza Meireles, Ana; Elting, Mariet W; Waisfisz, Quinten; O'Donnell-Luria, Anne; Nowak, Catherine; Douglas, Jessica; Ronan, Anne; Brunet, Theresa; Kotzaeridou, Urania; Svihovec, Shayna; Saenz, Margarita S; Thiffault, Isabelle; Del Viso, Florencia; Devine, Patrick; Rego, Shannon; Tenney, Jessica; van Haeringen, Arie; Ruivenkamp, Claudia A L; Koene, Saskia; Robertson, Stephen P; Deshpande, Charulata; Pfundt, Rolph; Verbeek, Nienke; van de Kamp, Jiddeke M; Weiss, Janneke M M; Ruiz, Anna; Gabau, Elisabeth; Banne, Ehud; Pepler, Alexander; Bottani, Armand; Laurent, Sacha; Guipponi, Michel; Bijlsma, Emilia; Bruel, Ange-Line; Sorlin, Arthur; Willis, Mary; Powis, Zoe; Smol, Thomas; Vincent-Delorme, Catherine; Baralle, Diana; Colin, Estelle; Revencu, Nicole; Calpena, Eduardo; Wilkie, Andrew O M; Chopra, Maya; Cormier-Daire, Valerie; Keren, Boris; Afenjar, Alexandra; Niceta, Marcello; Terracciano, Alessandra; Specchio, Nicola; Tartaglia, Marco; Rio, Marlene; Barcia, Giulia; Rondeau, Sophie; Colson, Cindy; Bakkers, Jeroen; Mace, Peter D; Bicknell, Louise S; van Haaften, Gijs
Am J Hum Genet
AMERICAN JOURNAL OF HUMAN GENETICS
r-I3PT. Repositorio Institucional Producción Científica del Institut d'Investigació i Innovació Parc Taulí
instname
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Deciphering Developmental Disorders Study 2022, 'Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome', American journal of human genetics, vol. 109, no. 4, pp. 750-758. https://doi.org/10.1016/j.ajhg.2022.02.003
American Journal of Human Genetics, 109, 4, pp. 750-758
American journal of human genetics, Vol. 109, no. 4, p. 750-758 (2022)
Am. J. Hum. Genet. 109, 750-758 (2022)
AMERICAN JOURNAL OF HUMAN GENETICS
r-I3PT. Repositorio Institucional Producción Científica del Institut d'Investigació i Innovació Parc Taulí
instname
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Deciphering Developmental Disorders Study 2022, 'Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome', American journal of human genetics, vol. 109, no. 4, pp. 750-758. https://doi.org/10.1016/j.ajhg.2022.02.003
American Journal of Human Genetics, 109, 4, pp. 750-758
American journal of human genetics, Vol. 109, no. 4, p. 750-758 (2022)
Am. J. Hum. Genet. 109, 750-758 (2022)
Academic Journal
Koop, Klaas; Yuan, Weimin; Tessadori, Federico; Rodriguez-Polanco, Wilmer R.; Grubbs, Jeremy; Zhang, Bo; Osmond, Matt; Graham, Gail; Sawyer, Sarah; Conboy, Erin; Vetrini, Francesco; Treat, Kayla; Płoski, Rafal; Pienkowski, Victor Murcia; Kłosowska, Anna; Fieg, Elizabeth; Krier, Joel; Mallebranche, Coralie; Alban, Ziegler; Aldinger, Kimberly A.; Ritter, Deborah; Macnamara, Ellen; Sullivan, Bonnie; Herriges, John; Alaimo, Joseph T.; Helbig, Catherine; Ellis, Colin A.; van Eyk, Clare; Gecz, Jozef; Farrugia, Daniel; Osei-Owusu, Ikeoluwa; Adès, Lesley; van den Boogaard, Marie-Jose; Fuchs, Sabine; Bakker, Jeroen; Duran, Karen; Dawson, Zachary D.; Lindsey, Anika; Huang, Huiyan; Baldridge, Dustin; Silverman, Gary A.; Grant, Barth D.; Raizen, David; Undiagnosed Diseases Network; van Haaften, Gijs; Pak, Stephen C.; Rehmann, Holger; Schedl, Tim; van Hasselt, Peter
Academic Journal
Claudine W.B. Ruijmbeek; Filomena Housley; Hafiza Idrees; Michael P. Housley; Jenny Pestel; Leonie Keller; Jason K.H. Lai; Herma C. van der Linde; Rob Willemsen; Janett Piesker; Zuhair N. Al-Hassnan; Abdulrahman Almesned; Michiel Dalinghaus; Lisa M. van den Bersselaar; Marjon A. van Slegtenhorst; Federico Tessadori; Jeroen Bakkers; Tjakko J. van Ham; Didier Y.R. Stainier; Judith M.A. Verhagen; Sven Reischauer
JCI Insight, Vol 8, Iss 17 (2023)
Academic Journal
Ciapaite, Jolita ; Albersen, Monique ; Savelberg, Sanne M.C. ; Bosma, Marjolein ; Tessadori, Federico ; Gerrits, Johan ; Lansu, Nico ; Zwakenberg, Susan ; Bakkers, Jeroen P.W. ; Zwartkruis, Fried J.T. ; van Haaften, Gijs ; Jans, Judith J. ; Verhoeven-Duif, Nanda M.
In BBA - Molecular Basis of Disease 1 March 2020 1866(3)
Academic Journal
van den Boogaard, Malou ; van Weerd, Jan Hendrik ; Bawazeer, Amira C. ; Hooijkaas, Ingeborg B. ; van de Werken, Harmen J.G. ; Tessadori, Federico ; de Laat, Wouter ; Barnett, Phil ; Bakkers, Jeroen ; Christoffels, Vincent M.
In Cell Reports 3 September 2019 28(10):2704-2714
Academic Journal
van Zanten, Martijn; Tessadori, Federico; McLoughlin, Fionn; Smith, Reuben; Millenaar, Frank F.; van Driel, Roel; Voesenek, Laurentius A.C.J.; Peeters, Anton J.M.; Fransz, Paul
Plant Physiology, 2010 Dec 01. 154(4), 1686-1696.
Academic Journal
Tessadori, Federico; Rehman, Atteeq U.; Giltay, Jacques C.; Xia, Fan; Streff, Haley; Duran, Karen; Bakkers, Jeroen; Lalani, Seema R.; van Haaften, Gijs
European Journal of Human Genetics. 28(5):674-678
Academic Journal
Rumping, Lynne; Tessadori, Federico; Pouwels, Petra J W; Vringer, Esmee; Wijnen, Jannie P; Bhogal, Alex A; Savelberg, Sanne M C; Duran, Karen J; Bakkers, Mark J G; Ramos, Rúben J J; Schellekens, Peter A W; Kroes, Hester Y; Klomp, Dennis W J; Black, Graeme C M; Taylor, Rachel L; Bakkers, Jeroen P W; Prinsen, Hubertus C M T; van der Knaap, Marjo S; Dansen, Tobias B; Rehmann, Holger; Zwartkruis, Fried J T; Houwen, Roderick H J; van Haaften, Gijs; Verhoeven-Duif, Nanda M; Jans, Judith J M; van Hasselt, Peter M
Rumping, L, Tessadori , F, Pouwels, P J W, Vringer, E, Wijnen, J P, Bhogal, A A, Savelberg, S M C, Duran, K J, Bakkers, M J G, Ramos, R B J J, Schellekens, P A W, Kroes, H Y, Klomp, D W J, Black, G C M, Taylor, R L, Bakkers, J P W, Prinsen, H C M T, van der Knaap, M S, Dansen, T B, Rehmann, H, Zwartkruis, F J T, Houwen, R H J, van Haaften, G, Verhoeven-Duif, N M, Jans, J J M & van Hasselt, P M 2019, 'GLS hyperactivity causes glutamate excess, infantile cataract and profound developmental delay', Human Molecular Genetics, vol. 28, no. 1, pp. 96-104. https://doi.org/10.1093/hmg/ddy330
Taylor, R L & Black, G 2019, 'GLS hyperactivity causes glutamate excess, infantile cataract and profound developmental delay', Human Molecular Genetics, vol. 28, no. 1, pp. 96-104. https://doi.org/10.1093/hmg/ddy330
Taylor, R L & Black, G 2019, 'GLS hyperactivity causes glutamate excess, infantile cataract and profound developmental delay', Human Molecular Genetics, vol. 28, no. 1, pp. 96-104. https://doi.org/10.1093/hmg/ddy330
Academic Journal
Federico Tessadori; Erika Tsingos; Enrico Sandro Colizzi; Fabian Kruse; Susanne C van den Brink; Malou van den Boogaard; Vincent M Christoffels; Roeland MH Merks; Jeroen Bakkers
eLife, Vol 10 (2021)
Academic Journal
Mylne, Joshua S.; Barrett, Lynne; Tessadori, Federico; Mesnage, Stéphane; Johnson, Lianna; Bernatavichute, Yana V.; Jacobsen, Steven E.; Fransz, Paul; Dean, Caroline
Proceedings of the National Academy of Sciences of the United States of America, 2006 Mar . 103(13), 5012-5017.
Academic Journal
Marie F. Smeland; Conor McClenaghan; Helen I. Roessler; Sanne Savelberg; Geir Åsmund Myge Hansen; Helene Hjellnes; Kjell Arne Arntzen; Kai Ivar Müller; Andreas Rosenberger Dybesland; Theresa Harter; Monica Sala-Rabanal; Chris H. Emfinger; Yan Huang; Soma S. Singareddy; Jamie Gunn; David F. Wozniak; Attila Kovacs; Maarten Massink; Federico Tessadori; Sarah M. Kamel; Jeroen Bakkers; Maria S. Remedi; Marijke Van Ghelue; Colin G. Nichols; Gijs van Haaften
Nature Communications, Vol 10, Iss 1, Pp 1-19 (2019)
Academic Journal
Glen R. Monroe; Albertien M. van Eerde; Federico Tessadori; Karen J. Duran; Sanne M. C. Savelberg; Johanna C. van Alfen; Paulien A. Terhal; Saskia N. van der Crabben; Klaske D. Lichtenbelt; Sabine A. Fuchs; Johan Gerrits; Markus J. van Roosmalen; Koen L. van Gassen; Mirjam van Aalderen; Bart G. Koot; Marlies Oostendorp; Marinus Duran; Gepke Visser; Tom J. de Koning; Francesco Calì; Paolo Bosco; Karin Geleijns; Monique G. M. de Sain-van der Velden; Nine V. Knoers; Jeroen Bakkers; Nanda M. Verhoeven-Duif; Gijs van Haaften; Judith J. Jans
Nature Communications, Vol 10, Iss 1, Pp 1-8 (2019)
Academic Journal
Planta, 2005 Nov 01. 222(5), 910-925.
Academic Journal
Tessadori, Federico; de Bakker, Dennis E. M.; Barske, Lindsey; Nelson, Nellie; Algra, Hermine A.; Willekers, Sven; Nichols, James T.
Nature. September 24, 2020, Vol. 585 Issue 7826, pE14, 3 p.
Academic Journal
Škorić-Milosavljević, Doris; Tadros, Rafik; Bosada, Fernanda M.; Tessadori, Federico; van Weerd, Jan Hendrik; Woudstra, Odilia I.; Tjong, Fleur V.Y.; Lahrouchi, Najim; Bajolle, Fanny; Cordell, Heather J.; Agopian, A.J.; Blue, Gillian M.; Barge-Schaapveld, Daniela Q.C.M.; Gewillig, Marc; Preuss, Christoph; Lodder, Elisabeth M.; Barnett, Phil; Ilgun, Aho; Beekman, Leander; van Duijvenboden, Karel; Bokenkamp, Regina; Müller-Nurasyid, Martina; Vliegen, Hubert W.; Konings, Thelma C.; van Melle, Joost P.; van Dijk, Arie P.J.; van Kimmenade, Roland R.J.; Roos-Hesselink, Jolien W.; Sieswerda, Gertjan T.; Meijboom, Folkert; Abdul-Khaliq, Hashim; Berger, Felix; Dittrich, Sven; Hitz, Marc-Phillip; Moosmann, Julia; Riede, Frank-Thomas; Schubert, Stephan; Galan, Pilar; Lathrop, Mark; Munter, Hans M.; Al-Chalabi, Ammar; Shaw, Christopher E.; Shaw, Pamela J.; Morrison, Karen E.; Veldink, Jan H.; van den Berg, Leonard H.; Evans, Sylvia; Nobrega, Marcelo A.; Aneas, Ivy; Radivojkov-Blagojević, Milena; Meitinger, Thomas; Oechslin, Erwin; Mondal, Tapas; Bergin, Lynn; Smythe, John F.; Altamirano-Diaz, Luis; Lougheed, Jane; Bouma, Berto J.; Chaix, Marie-A.; Kline, Jennie; Bassett, Anne S.; Andelfinger, Gregor; van der Palen, Roel L.F.; Bouvagnet, Patrice; Clur, Sally-Ann B.; Breckpot, Jeroen; Kerstjens-Frederikse, Wilhelmina S.; Winlaw, David S.; Bauer, Ulrike M.M.; Mital, Seema; Goldmuntz, Elizabeth; Keavney, Bernard; Bonnet, Damien; Mulder, Barbara J.; Tanck, Michael W.T.; Bakkers, Jeroen; Christoffels, Vincent M.; Boogerd, Cornelis J.; Postma, Alex V.; Bezzina, Connie R.
Circulation Research. Jan 21, 2022 130(2):166-180
Academic Journal
Tessadori, Federico; Giltay, Jacques C; Hurst, Jane A; Massink, Maarten P; Duran, Karen; Vos, Harmjan R; van Es, Robert M; Scott, Richard H; van Gassen, Koen L I; Bakkers, Jeroen; van Haaften, Gijs
Nature Genetics. November, 2017, Vol. 49 Issue 11, p1642, 5 p.
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[검색어] Tessadori, Federico
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