检索结果 - Cacha Peeters‐Scholte
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Effects of Allopurinol and Deferoxamine on Reperfusion Injury of the Brain in Newborn Piglets after Neonatal Hypoxia-Ischemia 由 Cacha Peeters‐Scholte, Kees P. J. Braun, Johanna G. Koster, Nicole Kops, Klas Blomgren, Giuseppe Buonocore, Sylvia van Buul‐Offers, Henrik Hagberg, Klaas Nicolay, Frank van Bel, Floris Groenendaal
出版 2003Artigo -
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Nitric Oxide Synthase Inhibition as a Neuroprotective Strategy Following Hypoxic–Ischemic Encephalopathy: Evidence From Animal Studies 由 Laurent M. A. Favié, Arlette R. Cox, Agnes van den Hoogen, Cora H. Nijboer, Cacha Peeters‐Scholte, Frank van Bel, Toine C. G. Egberts, Carin M. A. Rademaker, Floris Groenendaal
出版 2018Revisão -
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Neuroprotection by Selective Nitric Oxide Synthase Inhibition at 24 Hours After Perinatal Hypoxia-Ischemia 由 Cacha Peeters‐Scholte, Johanna G. Koster, Wouter B. Veldhuis, Evelyn van den Tweel, Changlian Zhu, Nicole Kops, Klas Blomgren, Dop Bär, Sylvia van Buul‐Offers, Henrik Hagberg, Klaas Nicolay, Frank van Bel, Floris Groenendaal
出版 2002Artigo -
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From diagnostic yield to clinical impact: a pilot study on the implementation of prenatal exome sequencing in routine care 由 Maayke A. de Koning, Monique C. Haak, P. N. Adama van Scheltema, Cacha Peeters‐Scholte, Tamara T. Koopmann, Esther Nibbeling, Emmelien Aten, Nicolette S. den Hollander, Claudia Ruivenkamp, Mariëtte J.V. Hoffer, Gijs W.E. Santen
出版 2019Artigo -
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Male patients affected by mosaic PCDH19 mutations: five new cases 由 Iris Lange, Patrick Rump, Rinze F. Neuteboom, Paul B. Augustijn, K. Hodges, A. I. Kistemaker, Oebele F. Brouwer, Grazia M.S. Mancini, Hadas Newman, Yvonne J. Vos, Katherine L. Helbig, Cacha Peeters‐Scholte, Marjolein Kriek, N. Knoers, Dick Lindhout, Bobby P.C. Koeleman, Marjan J. A. van Kempen, Eva H. Brilstra
出版 2017Artigo -
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Incidence of acquired demyelinating syndromes of the CNS in Dutch children: a nationwide study 由 I. A. Ketelslegers, Coriene E. Catsman‐Berrevoets, Rinze F. Neuteboom, M. E. Boon, K. G. J. van Dijk, Merijn Eikelenboom, R. H. J. M. Gooskens, Erik H. Niks, W. C. G. Overweg‐Plandsoen, E Peeters, Cacha Peeters‐Scholte, Bwee Tien Poll‐The, J. F. Rijk-van Andel, Johnny P.A. Samijn, I. Snoeck, Hans Stroink, R. Jeroen Vermeulen, Aad Verrips, Johan S.H. Vles, Michèl A.A.P. Willemsen, Rob Rodrigues Pereira, Rogier Q. Hintzen
出版 2012Artigo -
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De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila 由 Dorien Lugtenberg, Margot R.F. Reijnders, Michaela Fencková, Emilia K. Bijlsma, Raphael Bernier, Bregje W.M. van Bon, Eric Smeets, Anneke T. Vulto‐van Silfhout, Daniëlle G.M. Bosch, Evan E. Eichler, Heather C. Mefford, Gemma L. Carvill, Ernie M.H.F. Bongers, Janneke Schuurs-Hoeijmakers, Claudia Ruivenkamp, Gijs W.E. Santen, Anouk den Braber, Cacha Peeters‐Scholte, Sabine Kuenen, Patrik Verstreken, Rolph Pfundt, Helger G. Yntema, Petra F. de Vries, Joris A. Veltman, Alexander Hoischen, Christian Gilissen, Bert B.A. de Vries, Annette Schenck, Tjitske Kleefstra, Lisenka E.L.M. Vissers
出版 2016Artigo -
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Incidence and outcome of acquired demyelinating syndromes in Dutch children: update of a nationwide and prospective study 由 Casper L. de Mol, Yu Yi M. Wong, E Daniëlle van Pelt, I. A. Ketelslegers, Dewi P. Bakker, M. E. Boon, Kees P. J. Braun, K. G. J. van Dijk, Merijn Eikelenboom, Marc Engelen, Karin Geleijns, Charlotte A. Haaxma, J.M.F. Niermeijer, Erik H. Niks, E Peeters, Cacha Peeters‐Scholte, Bwee Tien Poll‐The, R Portier, J.F. de Rijk-van Andel, Johnny P.A. Samijn, H.M. Schippers, I. Snoeck, Hans Stroink, R. Jeroen Vermeulen, Aad Verrips, Frank Visscher, Johan S.H. Vles, Michèl A.A.P. Willemsen, Coriene E. Catsman‐Berrevoets, Rogier Q. Hintzen, R. F. Neuteboom
出版 2018Artigo -
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De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders 由 Sara Reynhout, Sandra Jansen, Dorien Haesen, Siska Van Belle, Sonja A. de Munnik, Ernie M.H.F. Bongers, Jolanda Schieving, Carlo Marcelis, Jeanne Amiel, Marlène Rio, Heather M. McLaughlin, Roger L. Ladda, Susan L. Sell, Marjolein Kriek, Cacha Peeters‐Scholte, Paulien A. Terhal, Koen L.I. van Gassen, Nienke E. Verbeek, Sonja Henry, Jessica Scott Schwoerer, Saleem Malik, Nicole Revençu, Carlos R. Ferreira, Ellen F. Macnamara, Hilde M. H. Braakman, Elise Brimble, Maura Ruzhnikov, Matias Wagner, Philip Harrer, Dagmar Wieczorek, Alma Kuechler, Barak Tziperman, Ortal Barel, Bert B.A. de Vries, Christopher T. Gordon, Veerle Janssens, Lisenka E.L.M. Vissers
出版 2018Artigo -
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Biallelic <i>ADAM22</i> pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy 由 Marieke M van der Knoop, Reza Maroofian, Yuko Fukata, Yvette van Ierland, Ehsan Ghayoor Karimiani, Anna‐Elina Lehesjoki, Mikko Muona, Anders Paetau, Yuri Miyazaki, Yoko Hirano, Laila Selim, Marina de França, Rodrigo Ambrósio Fock, Christian Beetz, Claudia Ruivenkamp, Alison Eaton, Francois D Morneau-Jacob, Lena Sagi‐Dain, Lilach Shemer-Meiri, Amir Peleg, Jumana Haddad‐Halloun, D.J. Kamphuis, Cacha Peeters‐Scholte, Semra Hız Kurul, Rita Horváth, Hanns Lochmüller, David Murphy, Stephan Waldmüller, Stephanie Spranger, David Overberg, Alison M. Muir, Abolfazl Rad, Barbara Vona, Firdous Abdulwahad, Sateesh Maddirevula, Inna Povolotskaya, V. Yu. Voinova, Vykuntaraju K. Gowda, Varunvenkat M. Srinivasan, Fowzan S. Alkuraya, Heather C. Mefford, Majid Alfadhel, Tobias B. Haack, Pasquale Striano, Mariasavina Severino, Masaki Fukata, Yvonne Hilhorst‐Hofstee, Henry Houlden
出版 2022Artigo -
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De novo mutations in ATP1A3 cause alternating hemiplegia of childhood 由 Erin L. Heinzen, Kathryn J. Swoboda, Yuki Hitomi, Fiorella Gurrieri, Sophie Nicole, Boukje de Vries, Francesco Danilo Tiziano, Bertrand Fontaine, Sophie Nicole, Sinéad B. Heavin, Eleni Panagiotakaki, Sophie Nicole, Fiorella Gurrieri, Giovanni Neri, Boukje de Vries, Stephany C Koelewijn, Jessica T. Kamphorst, Marije A. Geilenkirchen, Nadine Pelzer, Laura Laan, Joost Haan, Michel D. Ferrari, Arn van den Maagdenberg, Claudio Zucca, Maria Teresa Bassi, F Franchini, Rosaria Vavassori, Melania Giannotta, Giuseppe Gobbi, Tiziana Granata, Nardo Nardocci, Elisa De Grandis, E. Veneselli, Michela Stagnaro, Fiorella Gurrieri, Giovanni Neri, Federico Vigevano, Eleni Panagiotakaki, Claudia Oechsler, Alexis Arzimanoglou, Sophie Nicole, Melania Giannotta, Giuseppe Gobbi, Miriam Ninan, Brian Neville, Friedrich Ebinger, Carmen Fons, Jaume Campistol, David Kemlink, Soňa Nevšímalová, Laura Laan, Cacha Peeters‐Scholte, Arn van den Maagdenberg, Paul Casaer, Giorgio Casari, Guenter Sange, Georg Spiel, Filippo Martinelli Boneschi, Claudio Zucca, Maria Teresa Bassi, Tsveta Schyns, Francis P. Crawley, Dominique Poncelin, Rosaria Vavassori, Stefania Fiori, Emanuela Abiusi, Lorena Di Pietro, Matthew Sweney, Tara Newcomb, Louis Viollet, Chad D. Huff, Lynn B. Jorde, Sandra P. Reyna, Kelley J. Murphy, Kevin V. Shianna, Curtis Gumbs, Latasha Little, Kenneth Silver, Louis J. Ptáček, Joost Haan, Michel D. Ferrari, Ann Bye, Geoffrey Herkes, Charlotte M Whitelaw, David Webb, Bryan J. Lynch, Peter Uldall, Mary D. King, Ingrid E. Scheffer, Giovanni Neri, Alexis Arzimanoglou, Arn M. J. M. van den Maagdenberg, Sanjay M. Sisodiya, Mohamad A. Mikati, David B. Goldstein
出版 2012Artigo
相关主题
Medicine
Biology
Internal medicine
Gene
Genetics
Anesthesia
Encephalopathy
Neuroscience
Pharmacology
Phenotype
Biochemistry
Chemistry
Exome sequencing
Hypoxia (environmental)
Ischemia
Mutation
Neuroprotection
Nitric oxide
Nitric oxide synthase
Organic chemistry
Oxygen
Pathology
Pediatrics
Asphyxia
Disease
Enzyme
Epilepsy
Hypotonia
Immunohistochemistry
Incidence (geometry)