Ohcanbohtosat - Margje Sinnema

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  1. 1
    Behavioral phenotype in adults with Prader–Willi syndrome

    Behavioral phenotype in adults with Prader–Willi syndrome Dahkki Margje Sinnema, Stewart Einfeld, C. T. R. M. Schrander‐Stumpel, Marian A. Maaskant, Harm Boer, Leopold Curfs

    Almmustuhtton 2011
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  2. 2
    Dementia in Older Adults With Intellectual Disabilities-Epidemiology, Presentation, and Diagnosis

    Dementia in Older Adults With Intellectual Disabilities-Epidemiology, Presentation, and Diagnosis Dahkki André Strydom, Shahin Shooshtari, Lynette Lee, Veena Raykar, Jenny Torr, John A. Tsiouris, Nancy Jokinen, Ken Courtenay, Nicholas Bass, Margje Sinnema, Marian A. Maaskant

    Almmustuhtton 2010
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  3. 3
    Microglial phagolysosome dysfunction and altered neural communication amplify phenotypic severity in Prader-Willi Syndrome with larger deletion

    Microglial phagolysosome dysfunction and altered neural communication amplify phenotypic severity in Prader-Willi Syndrome with larger deletion Dahkki Felipe Corrêa‐da‐Silva, Jenny Carter, Xinyuan Wang, Rui Sun, Ekta Pathak, José Manuel Monroy Kuhn, Sonja C. Schriever, Clarissa M. Maya‐Monteiro, Han Jiao, Martin J. Kalsbeek, Pedro M. Moraes‐Vieira, Gilles Thomas, Margje Sinnema, Constance T. R. M. Stumpel, Leopold Curfs, Dirk Jan Stenvers, Paul T. Pfluger, Dominik Lutter, Alberto M. Pereira, Andries Kalsbeek, Eric Fliers, Dick F. Swaab, Lawrence S. Wilkinson, Yuanqing Gao, Chun‐Xia Yi

    Almmustuhtton 2024
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  4. 4
    The performance of genome sequencing as a first-tier test for neurodevelopmental disorders

    The performance of genome sequencing as a first-tier test for neurodevelopmental disorders Dahkki Bart van der Sanden, Gaby Schobers, Jordi Corominas Galbany, David A. Koolen, Margje Sinnema, Jeroen van Reeuwijk, Connie T. R. M. Stumpel, Tjitske Kleefstra, Bert B.A. de Vries, Martina Ruiterkamp‐Versteeg, Nico Leijsten, Michael Kwint, Ronny Derks, Hilde Swinkels, Amber den Ouden, Rolph Pfundt, Tuula Rinne, Nicole de Leeuw, Alexander P.A. Stegmann, Servi J.C. Stevens, Arthur van den Wijngaard, Han G. Brunner, Helger G. Yntema, Christian Gilissen, Marcel Nelen, Lisenka E.L.M. Vissers

    Almmustuhtton 2022
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  5. 5
    Deleterious de novo variants of X‐linked <i>ZC4H2</i> in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita

    Deleterious de novo variants of X‐linked <i>ZC4H2</i> in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita Dahkki Suzanna G.M. Frints, Friederike Hennig, Roberto Colombo, Sébastien Jacquemont, Paulien A. Terhal, Holly H. Zimmerman, David Hunt, Bryce A. Mendelsohn, Ulrike Kordaß, Richard Webster, Margje Sinnema, Omar Abdul‐Rahman, Vanessa Suckow, Alberto Fernández‐Jaén, Kees van Roozendaal, Servi J.C. Stevens, Merryn Macville, Salwan Al‐Nasiry, Koen L.I. van Gassen, N Utzig, Suzanne M. Koudijs, Lesley McGregor, Saskia M. Maas, Diana Baralle, Abhijit Dixit, Peter Wieacker, Marcus Lee, Arthur S. Lee, Elizabeth C. Engle, Gunnar Houge, Gyri Aasland Gradek, Andrew G. L. Douglas, Cheryl Longman, Shelagh Joss, Danita Velasco, Raoul C. M. Hennekam, Hiromi Hirata, Vera M. Kalscheuer

    Almmustuhtton 2019
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  6. 6
    Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome

    Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome Dahkki Joost Kummeling, Diante E. Stremmelaar, Nicholas Raun, Margot R.F. Reijnders, Marjolein H. Willemsen, Martina Ruiterkamp‐Versteeg, Marga Schepens, C Man, Christian Gilissen, Megan T. Cho, Kirsty McWalter, Margje Sinnema, James W. Wheless, Marleen Simon, Casie A. Genetti, Alicia Casey, Paulien A. Terhal, Jasper J. van der Smagt, Koen L.I. van Gassen, Pascal Joset, Angela Bahr, Katharina Steindl, Anita Rauch, Elmar Keller, Annick Raas‐Rothschild, David A. Koolen, Pankaj B. Agrawal, Trevor L. Hoffman, Nina Powell‐Hamilton, Isabelle Thiffault, Kendra Engleman, Dihong Zhou, Olaf A. Bodamer, Julia Hoefele, Korbinian M. Riedhammer, Eva Maria Christina Schwaibold, Velibor Tasić, Dirk Schubert, Deniz Top, Rolph Pfundt, Martin R. Higgs, Jamie M. Kramer, Tjitske Kleefstra

    Almmustuhtton 2020
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  7. 7
    Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder

    Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder Dahkki Silvestre Cuinat, Mathilde Nizon, Bertrand Isidor, Alexander P.A. Stegmann, Richard H. van Jaarsveld, Koen L.I. van Gassen, Jasper J. van der Smagt, Catharina M.L. Volker‐Touw, Sjoerd J.B. Holwerda, Paulien A. Terhal, Sarah Schuhmann, Georgia Vasileiou, Mohamed Khalifa, Alaa Nugud, Hemad Yasaei, Lilian Bomme Ousager, Charlotte Brasch‐Andersen, Wallid Deb, Thomas Besnard, Marleen Simon, Karin Huijsdens–van Amsterdam, Nienke E. Verbeek, Dena R. Matalon, Natalie Dykzeul, Shana White, Elizabeth Spiteri, Koenraad Devriendt, Anneleen Boogaerts, Marjolein H. Willemsen, Han G. Brunner, Margje Sinnema, Bert B.A. de Vries, Erica H. Gerkes, Rolph Pfundt, Kosuke Izumi, Ian D. Krantz, Zhou L. Xu, Jill R. Murrell, Irene Valenzuela, Ivon Cuscó, Eulàlia Rovira‐Moreno, Yaping Yang, Varoona Bizaoui, Olivier Patat, Laurence Faivre, Frédéric Tran Mau‐Them, Antonio Vitobello, Anne‐Sophie Denommé‐Pichon, Christophe Philippe, Stéphane Bézieau, Benjamin Cogné

    Almmustuhtton 2022
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  8. 8
    A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis

    A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis Dahkki Heather E. Olson, Nolwenn Jean‐Marçais, Edward Yang, Delphine Héron, Katrina Tatton‐Brown, Paul A. van der Zwaag, Emilia K. Bijlsma, Bryan L. Krock, E. De Backer, Erik‐Jan Kamsteeg, Margje Sinnema, Margot R.F. Reijnders, David Bearden, Amber Begtrup, Aida Telegrafi, Roelineke J. Lunsing, Lydie Bürglen, Gaëtan Lesca, Megan T. Cho, Lacey Smith, Beth Rosen Sheidley, Christelle Moufawad El Achkar, Phillip L. Pearl, Annapurna Poduri, Cara Skraban, Jennifer Tarpinian, Addie I. Nesbitt, Dietje E. Fransen van de Putte, Claudia Ruivenkamp, Patrick Rump, Nicolas Chatron, Isabelle Sabatier, Julitta de Bellescize, Laurent Guibaud, David A. Sweetser, Jessica L. Waxler, Klaas J. Wierenga, Jean Donadieu, Vinodh Narayanan, Keri Ramsey, Caroline Nava, Jean-Baptiste Rivière, Antonio Vitobello, Frédéric Tran Mau‐Them, Christophe Philippe, Ange-Line Bruel, Yannis Duffourd, Laurel Thomas, Stefan H. Lelieveld, Janneke Schuurs-Hoeijmakers, Han G. Brunner, Boris Keren, Julien Thévenon, Laurence Faivre, Gary Thomas, Christel Thauvin-Robinet

    Almmustuhtton 2018
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  9. 9
    De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome

    De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome Dahkki Jung‐Hyun Kim, Deepali N. Shinde, Margot R.F. Reijnders, Natalie Hauser, Rebecca L. Belmonte, G. R. Wilson, Daniëlle G.M. Bosch, Paula A. Bubulya, Vandana Shashi, Slavé Petrovski, Joshua K. Stone, Eun Young Park, Joris A. Veltman, Margje Sinnema, Connie T. R. M. Stumpel, Jos Draaisma, Joost Nicolai, Helger G. Yntema, Kristin Lindstrom, Bert B.A. de Vries, Tamison Jewett, Stephanie L. Santoro, Julie Vogt, Kristine Bachman, Andrea Seeley, Alyson Krokosky, Clesson Turner, Luis Rohena, Maja Hempel, Fanny Kortüm, Davor Lessel, Axel Neu, Tim M. Strom, Dagmar Wieczorek, Nuria C. Bramswig, Franco Laccone, Jana Behunova, Helga Rehder, Christopher T. Gordon, Marlène Rio, Serge Romana, Sha Tang, Dima El‐Khechen, Megan T. Cho, Kirsty McWalter, Ganka Douglas, Berivan Baskin, Amber Begtrup, Tara Funari, Kelly Schoch, Alexander P.A. Stegmann, Servi J.C. Stevens, Dong‐Er Zhang, David Traver, Xu Yao, Daniel G. MacArthur, Han G. Brunner, Grazia M.S. Mancini, R Myers, Laurie B. Owen, Ssang‐Taek Lim, David L. Stachura, Lisenka E.L.M. Vissers, E. Ahn

    Almmustuhtton 2016
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  10. 10
    Germline AGO2 mutations impair RNA interference and human neurological development

    Germline AGO2 mutations impair RNA interference and human neurological development Dahkki Davor Lessel, Daniela M. Zeitler, Margot R.F. Reijnders, Andriy Kazantsev, Fatemeh Hassani Nia, Alexander Bartholomäus, Victoria Martens, Astrid Bruckmann, Veronika Graus, Allyn McConkie‐Rosell, Marie McDonald, Bernarda Lozić, Ee‐Shien Tan, Erica H. Gerkes, Jessika Johannsen, Jonas Denecke, Aida Telegrafi, Evelien Zonneveld‐Huijssoon, Henny H. Lemmink, Breana Cham, Tanja Kovačević, Linda Ramsdell, Kimberly Foss, Diana Le Duc, Diana Mitter, Steffen Syrbe, Andreas Merkenschlager, Margje Sinnema, Bianca Panis, Joanna Lazier, Matthew Osmond, Taila Hartley, Jérémie Mortreux, Tiffany Busa, Chantal Missirian, Pankaj Prasun, Sabine Lüttgen, Ilaria Mannucci, Ivana Lessel, Claudia Schob, Stefan Kindler, John Pappas, Rachel Rabin, Marjolein H. Willemsen, Thatjana Gardeitchik, Katharina Löhner, Patrick Rump, Kerith‐Rae Dias, Carey‐Anne Evans, P. Ian Andrews, Tony Roscioli, Han G. Brunner, Chieko Chijiwa, M. E. Suzanne Lewis, Rami Abou Jamra, David A. Dyment, Kym M. Boycott, Alexander P.A. Stegmann, Christian Kubisch, Ene‐Choo Tan, Ghayda Mirzaa, Kirsty McWalter, Tjitske Kleefstra, Rolph Pfundt, Zoya Ignatova, Gunter Meister, Hans‐Jürgen Kreienkamp

    Almmustuhtton 2020
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  11. 11
    De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder

    De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder Dahkki Margot R.F. Reijnders, Kerry A. Miller, Mohsan Alvi, Jacqueline A.C. Goos, Melissa Lees, Anna de Burca, Alex Henderson, Alison Kraus, Barbara Mikat, Bert B.A. de Vries, Bertrand Isidor, Bronwyn Kerr, Carlo Marcelis, Caroline Schluth–Bolard, Charu Deshpande, Claudia Ruivenkamp, Dagmar Wieczorek, Diana Baralle, Edward Blair, Hartmut Engels, Hermann‐Josef Lüdecke, Jacqueline Eason, Gijs W.E. Santen, Jill Clayton‐Smith, Kate Chandler, Katrina Tatton‐Brown, Katelyn Payne, Katherine L. Helbig, Kelly Radtke, Kimberly Nugent, Kirsten Cremer, Tim M. Strom, Lynne M. Bird, Margje Sinnema, Maria Bitner‐Glindzicz, Marieke F. van Dooren, Mariëlle Alders, Marion Koopmans, Lauren Brick, Mariya Kozenko, Megan L. Harline, Merel Klaassens, Michelle Steinraths, Nicola Cooper, Patrick Edery, Patrick Yap, Paulien A. Terhal, Peter J. van der Spek, Phillis Lakeman, Rachel L. Taylor, Rebecca O. Littlejohn, Rolph Pfundt, Saadet Mercimek‐Andrews, Alexander P.A. Stegmann, Sarina G. Kant, Scott D. McLean, Shelagh Joss, Sigrid M.A. Swagemakers, Sofia Douzgou, Steven A. Wall, Sébastien Küry, Eduardo Calpena, Nils Koelling, Simon J. McGowan, Stephen R.F. Twigg, Irene M.J. Mathijssen, Christoffer Nellåker, Han G. Brunner, Andrew O.M. Wilkie

    Almmustuhtton 2018
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  12. 12
    Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants

    Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants Dahkki Sayaka Kayumi, Luis A. Pérez‐Jurado, María Palomares‐Bralo, Sneha Rangu, Sarah E. Sheppard, Wendy K. Chung, Michael C. Kruer, Mira Kharbanda, David J. Amor, George McGillivray, Julie S. Cohen, Sixto García‐Miñaúr, Clare L. van Eyk, Kelly Harper, Lachlan A. Jolly, Dani L. Webber, Christopher Barnett, Fernando Santos‐Simarro, Marta Pacio‐Míguez, Ángela del Pozo, Somayeh Bakhtiari, Matthew A. Deardorff, Holly Dubbs, Kosuke Izumi, Katheryn Grand, Christopher Gray, Paul R. Mark, Elizabeth Bhoj, Dong Li, Xilma R. Ortiz‐González, Beth Keena, Elaine H. Zackai, Ethan M. Goldberg, Guiomar Pérez de Nanclares, Arrate Pereda, Isabel Llano‐Rivas, Ignacio Arroyo, María Ángeles Fernández-Cuesta, Christel Thauvin‐Robinet, Laurence Faivre, Aurore Garde, Benoît Mazel, Ange‐Line Bruel, Michael L. Tress, Eva H. Brilstra, Amena Smith Fine, Kylie Crompton, Alexander P.A. Stegmann, Margje Sinnema, Servi J.C. Stevens, Joost Nicolai, Gaëtan Lesca, Laurence Lion‐François, Damien Haye, Nicolas Chatron, Amélie Piton, Mathilde Nizon, Benjamin Cogné, Siddharth Srivastava, Jennifer A. Bassetti, Candace Muss, Karen W. Gripp, Rebecca Procopio, Francisca Millan, Michelle M. Morrow, Melissa Assaf, Andrés Moreno-De-Luca, Shelagh Joss, Mark Hamilton, M. Bertoli, Nicola Foulds, Shane McKee, Alastair H. MacLennan, Jozef Gécz, Mark Corbett

    Almmustuhtton 2022
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  13. 13
    Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction

    Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction Dahkki Joery den Hoed, Elke de Boer, Norine Voisin, Alexander J.M. Dingemans, Nicolas Guex, Laurens Wiel, Christoffer Nellåker, Shivarajan Amudhavalli, Siddharth Banka, Frédérique Béna, Bruria Ben‐Zeev, Vincent R. Bonagura, Ange‐Line Bruel, Theresa Brunet, Han G. Brunner, Hui Bein Chew, Jacqueline Chrast, Loreta Cimbalistienė, Hilary Coon, Emmanuèlle C. Délot, Florence Démurger, Anne‐Sophie Denommé‐Pichon, Christel Depienne, Dian Donnai, David A. Dyment, Orly Elpeleg, Laurence Faivre, Christian Gilissen, Leslie Granger, Barbara Haber, Yasuo Hachiya, Yasmin Hamzavi Abedi, Jennifer Hanebeck, Jayne Y. Hehir‐Kwa, Brooke Horist, Toshiyuki Itai, Adam Jackson, Rosalyn Jewell, Kelly L. Jones, Shelagh Joss, Hirofumi Kashii, Mitsuhiro Kato, A.A. Kattentidt-Mouravieva, Fernando Kok, Urania Kotzaeridou, V. Krishnamurthy, Vaidutis Kučinskas, A. Kuechler, Alinoë Lavillaureix, P. Liu, Linda Manwaring, Naomichi Matsumoto, B. Mazel, Kirsty McWalter, Vardiella Meiner, Mohamad A. Mikati, Satoko Miyatake, Takeshi Mizuguchi, Lip Hen Moey, Shehla Mohammed, Hagar Mor‐Shaked, Hayley S. Mountford, Ruth Newbury‐Ecob, Sylvie Odent, Laura Orec, Matthew Osmond, Timothy Blake Palculict, Michael Parker, Andrea Petersen, Rolph Pfundt, Eglė Preikšaitienė, Kelly Radtke, Emmanuelle Ranza, Jill A. Rosenfeld, Teresa Santiago‐Sim, C. Schwager, Margje Sinnema, Lot Snijders Blok, Rebecca C. Spillmann, Alexander P.A. Stegmann, Isabelle Thiffault, Linh Tran, Adi Vaknin‐Dembinsky, Juliana H. Vedovato-dos-Santos, Samantha A. Schrier Vergano, Éric Vilain, Antonio Vitobello, Matias Wagner, Androu Waheeb, Marcia Willing, Britton Zuccarelli, Usha Kini, Dianne F. Newbury, Tjitske Kleefstra, Alexandre Reymond, Simon E. Fisher, Lisenka E.L.M. Vissers

    Almmustuhtton 2020
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  14. 14
    Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction

    Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction Dahkki Joery den Hoed, Elke de Boer, Norine Voisin, Alexander J.M. Dingemans, Nicolas Guex, Laurens Wiel, Christoffer Nellåker, Shivarajan Amudhavalli, Siddharth Banka, Frédérique Béna, Bruria Ben‐Zeev, Vincent R. Bonagura, Ange‐Line Bruel, Theresa Brunet, Han G. Brunner, Hui Bein Chew, Jacqueline Chrast, Loreta Cimbalistienė, Hilary Coon, Emmanuèlle C. Délot, Florence Démurger, Anne‐Sophie Denommé‐Pichon, Christel Depienne, Dian Donnai, David A. Dyment, Orly Elpeleg, Laurence Faivre, Christian Gilissen, Leslie Granger, Benjamin Haber, Yasuo Hachiya, Yasmin Hamzavi Abedi, Jennifer Hanebeck, Jayne Y. Hehir‐Kwa, Brooke Horist, Toshiyuki Itai, Adam Jackson, Rosalyn Jewell, Kelly L. Jones, Shelagh Joss, Hirofumi Kashii, Mitsuhiro Kato, Anja A. Kattentidt‐Mouravieva, Fernando Kok, Urania Kotzaeridou, Vidya Krishnamurthy, Vaidutis Kučinskas, Alma Kuechler, Alinoë Lavillaureix, Pengfei Liu, Linda Manwaring, Naomichi Matsumoto, Benoît Mazel, Kirsty McWalter, Vardiella Meiner, Mohamad A. Mikati, Satoko Miyatake, Takeshi Mizuguchi, Lip Hen Moey, Shehla Mohammed, Hagar Mor‐Shaked, Hayley S. Mountford, Ruth Newbury‐Ecob, Sylvie Odent, Laura Orec, Matthew Osmond, Timothy Blake Palculict, Michael Parker, Andrea Petersen, Rolph Pfundt, Eglė Preikšaitienė, Kelly Radtke, Emmanuelle Ranza, Jill A. Rosenfeld, Teresa Santiago‐Sim, Caitlin Schwager, Margje Sinnema, Lot Snijders Blok, Rebecca C. Spillmann, Alexander P.A. Stegmann, Isabelle Thiffault, Linh Tran, Adi Vaknin‐Dembinsky, Juliana H. Vedovato-dos-Santos, Samantha A. Schrier Vergano, Éric Vilain, Antonio Vitobello, Matias Wagner, Androu Waheeb, Marcia Willing, Britton Zuccarelli, Usha Kini, Dianne F. Newbury, Tjitske Kleefstra, Alexandre Reymond, Simon E. Fisher, Lisenka E.L.M. Vissers

    Almmustuhtton 2021
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  15. 15
    Rapid exome sequencing as a first-tier test in neonates with suspected genetic disorder: results of a prospective multicenter clinical utility study in the Netherlands

    Rapid exome sequencing as a first-tier test in neonates with suspected genetic disorder: results of a prospective multicenter clinical utility study in the Netherlands Dahkki Richelle A. C. M. Olde Keizer, Abderrahim Marouane, Wilhelmina S. Kerstjens‐Frederikse, A. Chantal Deden, Klaske D. Lichtenbelt, Tinneke Jonckers, Marieke Vervoorn, Maaike Vreeburg, Lidewij Henneman, Linda S. de Vries, Richard J. Sinke, Rolph Pfundt, Servi J.C. Stevens, Peter Andriessen, Richard A. van Lingen, Marcel Nelen, Hans Scheffer, Daphne Stemkens, Cor Oosterwijk, Hans Kristian Ploos van Amstel, Willem P. de Boode, Wendy A.G. van Zelst–Stams, Geert Frederix, Lisenka E.L.M. Vissers, Lidewij Henneman, Mieke M. van Haelst, Erik A. Sistermans, Martina C. Cornel, Mala Misra‐Isrie, Marcel M.A.M. Mannens, Quinten Waisfisz, Johanna M. van Hagen, Alice S. Brooks, Tahsin Stefan Barakat, Elisabeth H. Hoefsloot, Richard A. van Lingen, Claudia Ruivenkamp, Arie van Haeringen, Saskia Koene, Gijs W.E. Santen, Julie W. Rutten, Bart de Koning, Sam Stevens, Arthur van den Wijngaard, Margje Sinnema, Alexander P.A. Stegmann, Maaike Vreeburg, Marieke Vervoorn, Peter Andriessen, D Kasteel, E. M. Adang, A. Chantal Deden, Han G. Brunner, Willem P. de Boode, Helger G. Yntema, Hans Scheffer, Wendy van Zelst-Stams, Rolph Pfundt, Tjitske Kleefstra, A Marouane, Lisenka E.L.M. Vissers, Tessel Rigter, Wendy Rodenburg, Morris A. Swertz, V.V.A.M. Knoers, Wilhelmina S. Kerstjens‐Frederikse, Richard J. Sinke, K. Joeri van der Velde, Irene M. van Langen, Mariëlle van Gijn, J. Peter van Tintelen, Linda S. de Vries, G. W. J. Frederix, Hans Kristian Ploos van Amstel, Klaske D. Lichtenbelt, Richelle A. C. M. Olde Keizer, Renske Oegema, Cor Oosterwijk, Daphne Stemkens

    Almmustuhtton 2023
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  16. 16
    The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder

    The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder Dahkki Dmitrijs Rots, Taryn E. Jakub, Crystal Keung, Adam Jackson, Siddharth Banka, Rolph Pfundt, Bert B.A. de Vries, Richard H. van Jaarsveld, Saskia Hopman, Ellen van Binsbergen, Irene Valenzuela, Maja Hempel, Tatjana Bierhals, Fanny Kortüm, François Lecoquierre, Alice Goldenberg, Jens Michael Hertz, Charlotte Brasch Andersen, Maria Kibæk, Eloise J. Prijoles, Roger E. Stevenson, David B. Everman, Wesley G. Patterson, Linyan Meng, Charul Gijavanekar, Karl De Dios, Shenela Lakhani, Tess Levy, Matias Wagner, Dagmar Wieczorek, Paul J. Benke, María Soledad Lopez Garcia, Renée Perrier, Sérgio B. Sousa, Pedro Almeida, Maria José Simões, Bertrand Isidor, Wallid Deb, Andrew A. Schmanski, Omar Abdul‐Rahman, Christophe Philippe, Ange‐Line Bruel, Laurence Faivre, Antonio Vitobello, Christel Thauvin, Jeroen J. Smits, Livia Garavelli, Stefano Giuseppe Caraffi, Francesca Peluso, Laura Davis‐Keppen, Dylan Platt, Erin Royer, Lisette Leeuwen, Margje Sinnema, Alexander P.A. Stegmann, Constance T. R. M. Stumpel, George E. Tiller, Daniëlle G.M. Bosch, Stephanus T. Potgieter, Shelagh Joss, Miranda Splitt, Simon Holden, Matina Prapa, Nicola Foulds, Sofia Douzgou, Kaija Puura, Regina Waltes, Andreas G. Chiocchetti, Christine M. Freitag, F. Kyle Satterstrom, Silvia De Rubeis, Joseph D. Buxbaum, Bruce D. Gelb, Branko Aleksić, Itaru Kushima, Jennifer Howe, Stephen W. Scherer, Alessia Arado, Chiara Baldo, Olivier Patat, Demeer Bénédicte, Diego Lopergolo, Filippo M. Santorelli, Tobias B. Haack, Andreas Dufke, Miriam Bertrand, Ruth Falb, Angelika Rieß, Peter Krieg, Stephanie Spranger, Maria Francesca Bedeschi, Maria Iascone, Sarah Josephi‐Taylor, Tony Roscioli, Michael F. Buckley, Jan Liebelt, Aditi I Dagli, Emmelien Aten, Anna Hurst, Alesha Hicks

    Almmustuhtton 2023
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