检索结果 - Frans W. Verheijen

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  1. 1
    The Spectrum of SLC17A5-Gene Mutations Resulting in Free Sialic Acid–Storage Diseases Indicates Some Genotype-Phenotype Correlation

    The Spectrum of SLC17A5-Gene Mutations Resulting in Free Sialic Acid–Storage Diseases Indicates Some Genotype-Phenotype Correlation 由 Nina Aula, Pirjo Salomäki, Ritva Timonen, Frans W. Verheijen, Grazia M.S. Mancini, Jan‐Eric Månsson, Perttì Aula, Leena Peltonen

    出版 2000
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  2. 2
    Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype

    Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype 由 Marlies J. Valstar, Hennie T. Brüggenwirth, Renske Olmer, Ron A. Wevers, Frans W. Verheijen, Ben J. H. M. Poorthuis, Dicky Halley, Frits A. Wijburg

    出版 2010
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  3. 3
    Microcephaly with Simplified Gyration, Epilepsy, and Infantile Diabetes Linked to Inappropriate Apoptosis of Neural Progenitors

    Microcephaly with Simplified Gyration, Epilepsy, and Infantile Diabetes Linked to Inappropriate Apoptosis of Neural Progenitors 由 Cathryn Poulton, Rachel Schot, Sima Kheradmand Kia, Marta Jones, Frans W. Verheijen, Hanka Venselaar, Marie‐Claire Y. de Wit, Esther de Graaff, Aida M. Bertoli‐Avella, Grazia M.S. Mancini

    出版 2011
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  4. 4
    Loss of Nuclear Activity of the FBXO7 Protein in Patients with Parkinsonian-Pyramidal Syndrome (PARK15)

    Loss of Nuclear Activity of the FBXO7 Protein in Patients with Parkinsonian-Pyramidal Syndrome (PARK15) 由 Tianna Zhao, Esther de Graaff, Guido J. Breedveld, Agnese Loda, Lies-Anne Severijnen, Carine Wouters, Frans W. Verheijen, Marieke C. J. Dekker, Pasquale Montagna, Rob Willemsen, Ben A. Oostra, Vincenzo Bonifati

    出版 2011
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  5. 5
    COL4A2 mutation associated with familial porencephaly and small-vessel disease

    COL4A2 mutation associated with familial porencephaly and small-vessel disease 由 Elly Verbeek, Marije Meuwissen, Frans W. Verheijen, Paul Govaert, Daniel J. Licht, Debbie S. Kuo, Cathryn Poulton, Rachel Schot, Maarten H. Lequin, Jeroen Dudink, Dicky Halley, I.F.M. de Coo, Jan C. den Hollander, Renske Oegema, Douglas B. Gould, Grazia M.S. Mancini

    出版 2012
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  6. 6
    RTTN Mutations Link Primary Cilia Function to Organization of the Human Cerebral Cortex

    RTTN Mutations Link Primary Cilia Function to Organization of the Human Cerebral Cortex 由 Sima Kheradmand Kia, Elly Verbeek, Erik Engelen, Rachel Schot, Raymond A. Poot, I.F.M. de Coo, Maarten H. Lequin, Cathryn Poulton, Farzin Pourfarzad, Frank Grosveld, António Brehm, Marie‐Claire Y. de Wit, Renske Oegema, William B. Dobyns, Frans W. Verheijen, Grazia M.S. Mancini

    出版 2012
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  7. 7
    Autosomal Recessive Spinocerebellar Ataxia 7 (SCAR7) is Caused by Variants in<i>TPP1</i>, The Gene Involved in Classic Late-Infantile Neuronal Ceroid Lipofuscinosis 2 Disease (CLN2 Disease)

    Autosomal Recessive Spinocerebellar Ataxia 7 (SCAR7) is Caused by Variants in<i>TPP1</i>, The Gene Involved in Classic Late-Infantile Neuronal Ceroid Lipofuscinosis 2 Disease (CLN2... 由 Yu Sun, Rowida Almomani, Guido J. Breedveld, Gijs W.E. Santen, Emmelien Aten, Dirk J. Lefeber, Jorrit I. Hoff, Esther Brusse, Frans W. Verheijen, Robert M. Verdijk, Marjolein Kriek, Ben A. Oostra, Martijn H. Breuning, Monique Losekoot, Johan T. den Dunnen, Bart P. van de Warrenburg, Anneke Maat‐Kievit

    出版 2013
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  8. 8
    Human mutations in integrator complex subunits link transcriptome integrity to brain development

    Human mutations in integrator complex subunits link transcriptome integrity to brain development 由 Renske Oegema, David Baillat, Rachel Schot, Leontine van Unen, Alice Brooks, Sima Kheradmand Kia, A. Jeannette M. Hoogeboom, Zheng Xia, Wei Li, Matteo Cesaroni, Maarten H. Lequin, Marjon van Slegtenhorst, William B. Dobyns, I.F.M. de Coo, Frans W. Verheijen, Andreas Kremer, Peter J. van der Spek, Daphne Heijsman, Eric J. Wagner, Maarten Fornerod, Grazia M.S. Mancini

    出版 2017
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  9. 9
    Mutation in the AP4M1 Gene Provides a Model for Neuroaxonal Injury in Cerebral Palsy

    Mutation in the AP4M1 Gene Provides a Model for Neuroaxonal Injury in Cerebral Palsy 由 Annemieke J.M.H. Verkerk, Rachel Schot, Belinda Dumee, Karlijn Schellekens, Sigrid Swagemakers, Aida M. Bertoli‐Avella, Maarten H. Lequin, Jeroen Dudink, Paul Govaert, Arjen L. van Zwol, Jennifer Hirst, Marja W. Wessels, Coriene E. Catsman‐Berrevoets, Frans W. Verheijen, Esther de Graaff, I.F.M. de Coo, Johan M. Kros, Rob Willemsen, Patrick J. Willems, Peter J. van der Spek, Grazia M.S. Mancini

    出版 2009
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  10. 10
    Cysteinyl-tRNA Synthetase Mutations Cause a Multi-System, Recessive Disease That Includes Microcephaly, Developmental Delay, and Brittle Hair and Nails

    Cysteinyl-tRNA Synthetase Mutations Cause a Multi-System, Recessive Disease That Includes Microcephaly, Developmental Delay, and Brittle Hair and Nails 由 Molly E. Kuo, Arjan F. Theil, Anneke J.A. Kievit, May Christine V. Malicdan, Wendy J. Introne, Thomas Christian, Frans W. Verheijen, Desirée E.C. Smith, Marisa I. Mendes, Lidia Hussaarts-Odijk, Eric van der Meijden, Marjon van Slegtenhorst, Martina Wilke, Wim Vermeulen, Anja Raams, Catherine Groden, Shino Shimada, Rebecca Meyer‐Schuman, Ya‐Ming Hou, William A. Gahl, Anthony Antonellis, Gajja S. Salomons, Grazia M.S. Mancini

    出版 2019
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  11. 11
    Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome

    Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome 由 Marije Meuwissen, Rachel Schot, Sofija Buta, Grétel Oudesluijs, Sigrid Tinschert, Scott D. Speer, Zhi Li, Leontine van Unen, Daphne Heijsman, Tobias Goldmann, Maarten H. Lequin, Johan M. Kros, Wendy Stam, Martin Hermann, Rob Willemsen, Rutger W. W. Brouwer, Wilfred F. J. van IJcken, Marta Martín-Fernández, I.F.M. de Coo, Jeroen Dudink, Femke A.T. de Vries, Aida Bertoli Avella, Marco Prinz, Yanick J. Crow, Frans W. Verheijen, Sandra Pellegrini, Dusan Bogunovic, Grazia M.S. Mancini

    出版 2016
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  12. 12
    MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance

    MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance 由 William B. Dobyns, Kimberly A. Aldinger, Gisele E. Ishak, Ghayda Mirzaa, Andrew E. Timms, Megan E. Grout, Marjolein H. G. Dremmen, Rachel Schot, Laura Vandervore, Marjon A. van Slegtenhorst, Martina Wilke, Esmee Kasteleijn, Arthur S. Lee, Brenda J. Barry, Katherine R. Chao, Krzysztof Szczałuba, Joyce A. Kobori, Andrea Hanson‐Kahn, Jonathan A. Bernstein, Lucinda Carr, Felice D’Arco, Kaori Miyana, Tetsuya Okazaki, Yoshiaki Saito, Masayuki Sasaki, Soma Das, Marsha M. Wheeler, Michael J. Bamshad, Deborah A. Nickerson, Elizabeth C. Engle, Frans W. Verheijen, Dan Doherty, Grazia M.S. Mancini

    出版 2018
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  13. 13
    Web-accessible application for identifying pathogenic transcripts with RNA-seq: Increased sensitivity in diagnosis of neurodevelopmental disorders

    Web-accessible application for identifying pathogenic transcripts with RNA-seq: Increased sensitivity in diagnosis of neurodevelopmental disorders 由 Jordy Dekker, Rachel Schot, Michiel Bongaerts, Walter G. de Valk, Monique M. van Veghel–Plandsoen, Kathryn Monfils, Hannie Douben, Peter Elfferich, Esmee Kasteleijn, Leontine van Unen, Geert Geeven, Jasper J. Saris, Yvette van Ierland, Frans W. Verheijen, Marianne L. T. van der Sterre, Farah Sadeghi Niaraki, Daphne J. Smits, Hidde H. Huidekoper, Monique Williams, Martina Wilke, Virginie J. M. Verhoeven, Marieke Joosten, Anneke J.A. Kievit, Ingrid M.B.H. van de Laar, Lies H. Hoefsloot, Marianne Hoogeveen‐Westerveld, Mark Nellist, Grazia M.S. Mancini, Tjakko J. van Ham

    出版 2023
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  14. 14
    Candidate CSPG4 mutations and induced pluripotent stem cell modeling implicate oligodendrocyte progenitor cell dysfunction in familial schizophrenia

    Candidate CSPG4 mutations and induced pluripotent stem cell modeling implicate oligodendrocyte progenitor cell dysfunction in familial schizophrenia 由 Femke M.S. de Vrij, Christian G. Bouwkamp, Nilhan Gunhanlar, Guy Shpak, Bas Lendemeijer, Maarouf Baghdadi, Shreekara Gopalakrishna, Mehrnaz Ghazvini, Tracy Li, Marialuisa Quadri, Simone Olgiati, Guido J. Breedveld, Michiel Coesmans, Edwin Mientjes, Ton de Wit, Frans W. Verheijen, H. Berna Beverloo, Dan Cohen, Rob Kok, P. Roberto Bakker, Aviva Nijburg, Annet T. Spijker, P.M.J. Haffmans, Erik Hoencamp, Veerle Bergink, Jacob Vorstman, Timothy Wu, Loes M. Olde Loohuis, Najaf Amin, C. D. de LANGEN, Albert Hofman, Witte J.G. Hoogendijk, Cornelia M. van Duijn, M. Arfan Ikram, Meike W. Vernooij, Henning Tiemeier, André G. Uitterlinden, Ype Elgersma, Ben Distel, Joost Gribnau, Tonya White, Vincenzo Bonifati, Steven A. Kushner

    出版 2018
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  15. 15
    Mutations in a TGF-β Ligand, TGFB3, Cause Syndromic Aortic Aneurysms and Dissections

    Mutations in a TGF-β Ligand, TGFB3, Cause Syndromic Aortic Aneurysms and Dissections 由 Aida M. Bertoli‐Avella, Elisabeth Gillis, Hiroko Morisaki, Judith M.A. Verhagen, Bianca M. de Graaf, Gerarda van de Beek, Elena Gallo, Boudewijn P. T. Kruithof, Hanka Venselaar, Loretha Myers, Steven Laga, Alexander Doyle, Gretchen Oswald, Gert W. A. van Cappellen, Itaru Yamanaka, R.M. van der Helm, Berna Beverloo, Annelies de Klein, Luba M. Pardo, Martin Lammens, Christina Evers, Koenraad Devriendt, Michiel Dumoulein, Janneke Timmermans, Hennie T. Brüggenwirth, Frans W. Verheijen, Inez Rodrigus, Gareth Baynam, Marlies Kempers, Johan Saenen, Emeline M. Van Craenenbroeck, Kenji Minatoya, Ritsu Matsukawa, Takuro Tsukube, Noriaki Kubo, Robert M.W. Hofstra, Marie‐José Goumans, Jos A. Bekkers, Jolien W. Roos‐Hesselink, Ingrid M.B.H. van de Laar, Harry C. Dietz, Lut Van Laer, Takayuki Morisaki, Marja W. Wessels, Bart Loeys

    出版 2015
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  16. 16
    Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis

    Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis 由 Pamela Magini, Daphne J. Smits, Laura Vandervore, Rachel Schot, Marta Columbaro, Esmee Kasteleijn, Mees van der Ent, Flavia Palombo, Maarten H. Lequin, Marjolein H. G. Dremmen, Marie‐Claire Y. de Wit, Mariasavina Severino, Maria Teresa Divizia, Pasquale Striano, Natalia Ordonez‐Herrera, Amal Alhashem, Ahmed Fares, Malak Al Ghamdi, Arndt Rolfs, Peter Bauer, Jeroen Demmers, Frans W. Verheijen, Martina Wilke, Marjon van Slegtenhorst, Peter J. van der Spek, Marco Seri, Anna Jansen, Rolf W. Stottmann, Robert B. Hufnagel, Robert J. Hopkin, Deema Aljeaid, Wojciech Wiszniewski, Paweł Gawliński, Milena Laure‐Kamionowska, Fowzan S. Alkuraya, Hanah Akleh, Valentina Stanley, Damir Musaev, Joseph G. Gleeson, Maha S. Zaki, Nicola Brunetti‐Pierri, Gerarda Cappuccio, Bella Davidov, Lina Basel‐Vanagaite, Lily Bazak, Noa Ruhrman‐Shahar, Aida M. Bertoli‐Avella, Ghayda Mirzaa, William B. Dobyns, Tommaso Pippucci, Maarten Fornerod, Grazia M.S. Mancini

    出版 2019
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