Resultados de búsqueda - Levinus A. Bok

  • Mostrando 1 - 14 Resultados de 14
Limitar resultados
  1. 1
    Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literature

    Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literature por Merel Klaassens, Deborah Morrogh, Elisabeth Rosser, Fatima Jaffer, Maaike Vreeburg, Levinus A. Bok, Tim Segboer, Martine van Belzen, Rosaline C. M. Quinlivan, Ajith Kumar, Jane A. Hurst, Richard H. Scott

    Publicado 2014
    Enlace del recurso Enlace del recurso
    Revisão
    Agregar a favoritos
    Guardado en:
  2. 2
    Long‐term outcome in pyridoxine‐dependent epilepsy

    Long‐term outcome in pyridoxine‐dependent epilepsy por Levinus A. Bok, Feico J. J. Halbertsma, Saskia Houterman, Ron A. Wevers, C.M.J.M. Vreeswijk, Cornelis Jakobs, Eduard A. Struys, J. Han van der Hoeven, Deborah A. Sival, MICHÈL A WILLEMSEN

    Publicado 2012
    Enlace del recurso Enlace del recurso
    Artigo
    Agregar a favoritos
    Guardado en:
  3. 3
    The clinical-phenotype continuum in DYNC1H1-related disorders—genomic profiling and proposal for a novel classification

    The clinical-phenotype continuum in DYNC1H1-related disorders—genomic profiling and proposal for a novel classification por Lena‐Luise Becker, Hormos Salimi Dafsari, Jens Schallner, Dalia Abdin, Michael Seifert, Florence Petit, Thomas Smol, Levinus A. Bok, Lance H. Rodan, Ingrid P.C. Krapels, Stephanie Spranger, Bernhard Weschke, Katherine Johnson, Volker Straub, Angela M. Kaindl, Nataliya Di Donato, Maja von der Hagen, Sebahattin Çırak

    Publicado 2020
    Enlace del recurso Enlace del recurso
    Artigo
    Agregar a favoritos
    Guardado en:
  4. 4
    Lysine restricted diet for pyridoxine-dependent epilepsy: First evidence and future trials

    Lysine restricted diet for pyridoxine-dependent epilepsy: First evidence and future trials por Clara van Karnebeek, Hans Hartmann, Sravan Jaggumantri, Levinus A. Bok, Barb Cheng, Mary Connolly, Curtis R. Coughlin, Anibh M. Das, Sídney M. Gospe, Cornelis Jakobs, Johanna H. van der Lee, Saadet Mercimek‐Mahmutoglu, Uta Meyer, Eduard A. Struys, Graham Sinclair, Johan Van Hove, Jean-Paul Collet, Barbara Plecko, Sylvia Stöckler

    Publicado 2012
    Enlace del recurso
    Artigo
    Agregar a favoritos
    Guardado en:
  5. 5
    Functional convergence of histone methyltransferases EHMT1 and KMT2C involved in intellectual disability and autism spectrum disorder

    Functional convergence of histone methyltransferases EHMT1 and KMT2C involved in intellectual disability and autism spectrum disorder por Tom S. Koemans, Tjitske Kleefstra, Melissa C. Chubak, Max H. Stone, Margot R.F. Reijnders, Sonja de Munnik, Marjolein H. Willemsen, Michaela Fencková, Connie T. R. M. Stumpel, Levinus A. Bok, Margarita Sáenz, Kyna A. Byerly, Linda B. Baughn, Alexander P.A. Stegmann, Rolph Pfundt, Huiqing Zhou, Hans van Bokhoven, Annette Schenck, Jamie M. Kramer

    Publicado 2017
    Enlace del recurso Enlace del recurso
    Artigo
    Agregar a favoritos
    Guardado en:
  6. 6
    Arid1b haploinsufficient mice reveal neuropsychiatric phenotypes and reversible causes of growth impairment

    Arid1b haploinsufficient mice reveal neuropsychiatric phenotypes and reversible causes of growth impairment por Cemre Celen, Jen‐Chieh Chuang, Xin Luo, Nadine Nijem, Angela K. Walker, Fei Chen, Shuyuan Zhang, Andrew Chung, Liem H. Nguyen, Ibrahim Nassour, Albert Budhipramono, Xuxu Sun, Levinus A. Bok, Meriel McEntagart, Evelien Gevers, Shari G. Birnbaum, Amelia J. Eisch, Craig M. Powell, Woo‐Ping Ge, Gijs W.E. Santen, Maria H. Chahrour, Hao Zhu

    Publicado 2017
    Enlace del recurso
    Artigo
    Agregar a favoritos
    Guardado en:
  7. 7
    Lysine-Restricted Diet as Adjunct Therapy for Pyridoxine-Dependent Epilepsy: The PDE Consortium Consensus Recommendations

    Lysine-Restricted Diet as Adjunct Therapy for Pyridoxine-Dependent Epilepsy: The PDE Consortium Consensus Recommendations por Clara van Karnebeek, Sylvia Stöckler‐Ipsiroglu, Sravan Jaggumantri, Birgit Assmann, Peter Baxter, Daniela Buhaş, Levinus A. Bok, Barbara Cheng, Curtis R. Coughlin, Anibh M. Das, Alette Giezen, Walla Al‐Hertani, Gloria Y.F. Ho, Uta Meyer, Philippa B. Mills, Barbara Plecko, Eduard A. Struys, Keiko Ueda, Monique Albersen, Nanda M. Verhoeven, Sídney M. Gospe, Renata C. Gallagher, Johan K. L. Van Hove, Hans Hartmann

    Publicado 2014
    Enlace del recurso
    Artigo
    Agregar a favoritos
    Guardado en:
  8. 8
    Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila

    Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila por Jonas Straub, Enrico D.H. Konrad, Johanna Grüner, Annick Toutain, Levinus A. Bok, Megan T. Cho, Heather P. Crawford, Holly Dubbs, Ganka Douglas, Rebekah Jobling, Diana Johnson, Bryan L. Krock, Mohamad A. Mikati, Addie I. Nesbitt, Joost Nicolai, Meredith Phillips, Annapurna Poduri, Xilma R. Ortiz‐González, Zöe Powis, Avni Santani, Lacey Smith, Alexander P.A. Stegmann, Constance T. R. M. Stumpel, Maaike Vreeburg, Anna Fliedner, Anne Gregor, Heinrich Sticht, Christiane Zweier

    Publicado 2017
    Enlace del recurso Enlace del recurso
    Artigo
    Agregar a favoritos
    Guardado en:
  9. 9
    Consensus guidelines for the diagnosis and management of pyridoxine‐dependent epilepsy due to α‐aminoadipic semialdehyde dehydrogenase deficiency

    Consensus guidelines for the diagnosis and management of pyridoxine‐dependent epilepsy due to α‐aminoadipic semialdehyde dehydrogenase deficiency por Curtis R. Coughlin, Laura A. Tseng, José E. Abdenur, Catherine Ashmore, François Boemer, Levinus A. Bok, Monica Boyer, Daniela Buhaş, Peter T. Clayton, Anibh M. Das, Hanka Dekker, Athanasios Evangeliou, François Feillet, Emma Footitt, Sídney M. Gospe, Hans Hartmann, Majdi Kara, Erle Kristensen, Joy Lee, R. Lilje, Nicola Longo, Roelineke J. Lunsing, Philippa B. Mills, Maria Papadopoulou, Phillip L. Pearl, Flávia Piazzon, Barbara Plecko, Arushi Gahlot Saini, Saikat Santra, Damayanti Rusli Sjarif, Sylvia Stöckler‐Ipsiroglu, Pasquale Striano, Johan L.K. Van Hove, Nanda M. Verhoeven‐Duif, Frits A. Wijburg, Sameer M. Zuberi, Clara van Karnebeek

    Publicado 2020
    Enlace del recurso
    Revisão
    Agregar a favoritos
    Guardado en:
  10. 10
    Untargeted metabolomics and infrared ion spectroscopy identify biomarkers for pyridoxine-dependent epilepsy

    Untargeted metabolomics and infrared ion spectroscopy identify biomarkers for pyridoxine-dependent epilepsy por Udo F. H. Engelke, Rianne E. van Outersterp, Jona Merx, Fred A. M. G. van Geenen, Arno van Rooij, Giel Berden, Marleen C.D.G. Huigen, Leo A. J. Kluijtmans, Tessa M. A. Peters, Hilal H. Al-Shekaili, Blair R. Leavitt, Erik de Vrieze, Sanne Broekman, Erwin van Wijk, Laura A. Tseng, Purva Kulkarni, Floris P. J. T. Rutjes, Jasmin Mecinović, Eduard A. Struys, Laura A. Jansen, Sídney M. Gospe, Saadet Mercimek‐Andrews, Keith Hyland, Michèl A.A.P. Willemsen, Levinus A. Bok, Clara D.M. van Karnebeek, Ron A. Wevers, Thomas J. Boltje, Jos Oomens, Jonathan Martens, Karlien L. M. Coene

    Publicado 2021
    Enlace del recurso Enlace del recurso
    Artigo
    Agregar a favoritos
    Guardado en:
  11. 11
    The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families

    The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families por Michael D. Fountain, Emmelien Aten, Megan T. Cho, Jane Juusola, Magdalena Walkiewicz, Joseph W. Ray, Fan Xia, Yaping Yang, Brett H. Graham, Carlos A. Bacino, Lorraine Potocki, Arie van Haeringen, Claudia Ruivenkamp, Pedro Mancías, Hope Northrup, Mary K. Kukolich, Marjan M. Weiss, Conny M.A. van Ravenswaaij‐Arts, Inge B. Mathijssen, Sébastien Levesque, Naomi Meeks, Jill A. Rosenfeld, Danielle Lemke, Ada Hamosh, M. E. Suzanne Lewis, Simone Race, Laura Stewart, Beverly N. Hay, Andrea M. Lewis, Rita Guerreiro, José Brás, Marcia P. Martins, G Derksen‐Lubsen, E Peeters, Connie T. R. M. Stumpel, Alexander P.A. Stegmann, Levinus A. Bok, Gijs W.E. Santen, Christian P. Schaaf

    Publicado 2016
    Enlace del recurso Enlace del recurso
    Artigo
    Agregar a favoritos
    Guardado en:
  12. 12
    PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature

    PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature por Margot R.F. Reijnders, Robert Janowski, Mohsan Alvi, Jay Self, Ton J van Essen, Maaike Vreeburg, Rob P.W. Rouhl, Servi J.C. Stevens, Alexander P.A. Stegmann, Jolanda Schieving, Rolph Pfundt, Katinke van Dijk, Eric J. Smeets, Connie T. R. M. Stumpel, Levinus A. Bok, Jan Maarten Cobben, Marc Engelen, Sahar Mansour, Margo Whiteford, Kate Chandler, Sofia Douzgou, Nicola Cooper, Ene‐Choo Tan, Roger Foo, Angeline Lai, Julia Rankin, Andrew Green, Tuula Lönnqvist, Pirjo Isohanni, Shelley Williams, Ilene S. Ruhoy, Karen S. Carvalho, James J. Dowling, Dorit Lev, Katalin Štěrbová, Petra Laššuthová, Jana Neupauerová, Jeff L. Waugh, Sotirios Keros, Jill Clayton‐Smith, Sarah Smithson, Han G. Brunner, Ceciel van Hoeckel, Mel Anderson, Virginia E. Clowes, Victoria Mok Siu, the DDD study, Paulo Selber, Richard J. Leventer, Christoffer Nellåker, Dierk Niessing, David Hunt, Diana Baralle

    Publicado 2017
    Enlace del recurso Enlace del recurso
    Revisão
    Agregar a favoritos
    Guardado en:
  13. 13
    <i>GRIN2B</i>encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects

    <i>GRIN2B</i>encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects por Konrad Platzer, Hongjie Yuan, Hannah M. Schutz, Alexander Winschel, Wenjuan Chen, Chun Hu, Hirofumi Kusumoto, Henrike Heyne, Katherine L. Helbig, Sha Tang, Marcia Willing, Brad T. Tinkle, Darius J. Adams, Christel Depienne, Boris Keren, Cyril Mignot, Eirik Frengen, Petter Strømme, Saskia Biskup, Dennis Döcker, Tim M. Strom, Heather C. Mefford, Candace T. Myers, Alison M. Muir, Amy Lacroix, Lynette G. Sadleir, Ingrid E. Scheffer, Eva H. Brilstra, Mieke M. van Haelst, Jasper J. van der Smagt, Levinus A. Bok, Rikke S. Møller, Uffe Birk Jensen, J Gordon Millichap, Anne T. Berg, Ethan M. Goldberg, Isabelle De Bie, Stéphanie Fox, Philippe Major, Julie R. Jones, Elaine H. Zackai, Rami Abou Jamra, Arndt Rolfs, Richard J. Leventer, John A. Lawson, Tony Roscioli, Floor E. Jansen, Emmanuelle Ranza, Christian Korff, Anna-Elina Lehesjoki, Carolina Courage, Tarja Linnankivi, Andrew R. Smith, Christine M. Stanley, Mark Mintz, Dianalee McKnight, Amy Decker, Wen‐Hann Tan, Mark A. Tarnopolsky, Lauren Brady, Markus Wolff, Lutz Dondit, Hélio Pedro, Sarah Parisotto, Kelly L. Jones, Anup D. Patel, David Neal Franz, Rena Vanzo, Elysa Marco, Judith D. Ranells, Nataliya Di Donato, William B. Dobyns, Bodo Laube, Stephen F. Traynelis, Johannes R. Lemke

    Publicado 2017
    Enlace del recurso
    Artigo
    Agregar a favoritos
    Guardado en:
  14. 14
    The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

    The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome por Pleuntje J. van der Sluijs, Sandra Jansen, Samantha A. Schrier Vergano, Miho Adachi-Fukuda, Yasemin Alanay, Adila Al‐Kindy, Anwar Baban, Allan Bayat, Stefanie Beck‐Wödl, Katherine Berry, Emilia K. Bijlsma, Levinus A. Bok, Alwin F.J. Brouwer, Ineke van der Burgt, Philippe M. Campeau, Natalie Canham, Krystyńa Chrzańowska, Yoyo W. Y. Chu, Brain H.Y. Chung, Karin Dahan, Marjan De Rademaeker, Anne Destrèe, Tracy Dudding‐Byth, Rachel K. Earl, Nursel Elçioğlu, Ellen Roy Elias, Christina Fagerberg, Alice Gardham, Blanca Gener, Erica H. Gerkes, Ute Grasshoff, Arie van Haeringen, Karin R. Heitink, Johanna C. Herkert, Nicolette S. den Hollander, Denise Horn, David Hunt, Sarina G. Kant, Mitsuhiro Kato, Hülya Kayserili, Rogier Kersseboom, Esra KAYA KILIÇ, Małgorzata Krajewska‐Walasek, Kylin Lammers, Lone Walentin Laulund, Damien Lederer, Melissa Lees, Vanesa López‐González, Saskia M. Maas, Grazia M.S. Mancini, Carlo Marcelis, Francisco Martı́nez, Isabelle Maystadt, Marianne McGuire, Shane McKee, Sarju Mehta, Kay Metcalfe, Jeff M. Milunsky, Seiji Mizuno, John B. Moeschler, Christian Netzer, Charlotte W. Ockeloen, Barbara Oehl‐Jaschkowitz, Nobuhiko Okamoto, Sharon N.M. Olminkhof, Carmen Orellana, Laurent Pasquier, Caroline Pottinger, Vera Riehmer, Stephen P. Robertson, Maian Roifman, Caroline Rooryck, Fabienne G. Ropers, Mónica Roselló, Claudia Ruivenkamp, Mahmut Şamil Sağıroğlu, Suzanne C.E.H. Sallevelt, A. Sanchís Calvo, Pelin Özlem Şimşek‐Kiper, Gabriela Soares, Lucia Solaeche, Fatma Müjgan Sönmez, Miranda Splitt, Duco Steenbeek, Alexander P.A. Stegmann, Constance T. R. M. Stumpel, Saori Tanabe, Eyyüp Üçtepe, Gülen Eda Ütine, Hermine E. Veenstra‐Knol, Sunita Venkateswaran, Catheline Vilain, Catherine Vincent‐Delorme, Anneke T. Vulto‐van Silfhout, Patricia G. Wheeler, Golder N. Wilson, Louise C. Wilson, Bernd Wollnik, Tomoki Kosho, Dagmar Wieczorek

    Publicado 2018
    Enlace del recurso Enlace del recurso
    Artigo
    Agregar a favoritos
    Guardado en:

Herramientas de búsqueda: