Resultados da pesquisa - Erica H. Gerkes

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  1. 1
    The phenotypic spectrum of proximal 6q deletions based on a large cohort derived from social media and literature reports

    The phenotypic spectrum of proximal 6q deletions based on a large cohort derived from social media and literature reports Por Aafke Engwerda, Barbara Frentz, A. Lya den Ouden, Boudien Flapper, Morris A. Swertz, Erica H. Gerkes, Mirjam Plantinga, Trijnie Dijkhuizen, Conny M.A. van Ravenswaaij‐Arts

    Publicado em 2018
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  2. 2
    Variants in nuclear factor I genes influence growth and development

    Variants in nuclear factor I genes influence growth and development Por Martin Zenker, Jens Bunt, Ina Schanze, Denny Schanze, Michael Piper, Manuela Priolo, Erica H. Gerkes, Richard M. Gronostajski, Linda J. Richards, Julie Vogt, Marja W. Wessels, Raoul C. M. Hennekam

    Publicado em 2019
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  3. 3
    Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome

    Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome Por Marjolein H. Willemsen, Bridget A. Fernandez, Carlos A. Bacino, Erica H. Gerkes, Arjan PM de Brouwer, Rolph Pfundt, Birgit Sikkema‐Raddatz, Stephen W. Scherer, Christian R. Marshall, Lorraine Potocki, Hans van Bokhoven, Tjitske Kleefstra

    Publicado em 2009
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  4. 4
    A heritable form of SMARCE1-related meningiomas with important implications for follow-up and family screening

    A heritable form of SMARCE1-related meningiomas with important implications for follow-up and family screening Por Erica H. Gerkes, Johanna M. Fock, Wilfred F.A. den Dunnen, Martine J. van Belzen, Christian A van der Lans, E. W. Hoving, Ingrid E. Fakkert, Miriam J. Smith, D. Gareth Evans, Maran J.W. Olderode-Berends

    Publicado em 2016
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  5. 5
    Practical guidelines for interpreting copy number gains detected by high-resolution array in routine diagnostics

    Practical guidelines for interpreting copy number gains detected by high-resolution array in routine diagnostics Por Nicolien Hanemaaijer, Birgit Sikkema‐Raddatz, Gerben van der Vries, Trijnie Dijkhuizen, Roel Hordijk, Anthonie J. van Essen, Hermine E. Veenstra‐Knol, Wilhelmina S. Kerstjens‐Frederikse, Johanna C. Herkert, Erica H. Gerkes, Lamberta K Leegte, Klaas Kok, Richard J. Sinke, Conny M.A. van Ravenswaaij‐Arts

    Publicado em 2011
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  6. 6
    Pathogenic mutations in<i>GLI2</i>cause a specific phenotype that is distinct from holoprosencephaly

    Pathogenic mutations in<i>GLI2</i>cause a specific phenotype that is distinct from holoprosencephaly Por Kelly Bear, Benjamin D. Solomon, Sonir Roberto Rauber Antonini, Ivo J.P. Arnhold, Marcela M. França, Erica H. Gerkes, Dorothy K. Grange, Donald W. Hadley, Jarmo Jääskeläinen, Sabrina Soares Paulo, Patrick Rump, Constantine A. Stratakis, Elizabeth M. Thompson, Mary Willis, Thomas Winder, Alexander A.L. Jorge, Erich Roessler, Maximilian Muenke

    Publicado em 2014
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  7. 7
    Mutations in NEK8 link multiple organ dysplasia with altered Hippo signalling and increased c-MYC expression

    Mutations in NEK8 link multiple organ dysplasia with altered Hippo signalling and increased c-MYC expression Por Valeska Frank, Sandra Habbig, Malte P. Bartram, Tobias Eisenberger, Hermine E. Veenstra‐Knol, Christian Decker, Reinder A.C. Boorsma, Heike Göbel, Gudrun Nürnberg, Anabel Griessmann, Mareike Franke, Lori Borgal, Priyanka Kohli, Linus A. Völker, Jörg Dötsch, Peter Nürnberg, Thomas Benzing, Hanno J. Bolz, Colin A. Johnson, Erica H. Gerkes, Bernhard Schermer, Carsten Bergmann

    Publicado em 2013
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  8. 8
    <i>CREBBP</i> mutations in individuals without Rubinstein–Taybi syndrome phenotype

    <i>CREBBP</i> mutations in individuals without Rubinstein–Taybi syndrome phenotype Por Leonie A. Menke, Martine J. van Belzen, Mariëlle Alders, Francesca Cristofoli, Nadja Ehmke, Patricia Fergelot, Alison Foster, Erica H. Gerkes, Mariëtte J.V. Hoffer, Denise Horn, Sarina G. Kant, Didier Lacombe, Eyby Leon, Saskia M. Maas, Daniela Melis, Valentina Muto, Soo‐Mi Park, Hilde Peeters, Dorien J.M. Peters, Rolph Pfundt, Conny M.A. van Ravenswaaij‐Arts, Marco Tartaglia, Raoul C. M. Hennekam

    Publicado em 2016
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  9. 9
    Molecular and clinical characterization of 25 individuals with exonic deletions of <i>NRXN1</i> and comprehensive review of the literature

    Molecular and clinical characterization of 25 individuals with exonic deletions of <i>NRXN1</i> and comprehensive review of the literature Por Frédérique Béna, Damien L. Bruno, Mats Eriksson, Conny M.A. van Ravenswaaij‐Arts, Zornitza Stark, Trijnie Dijkhuizen, Erica H. Gerkes, Stefania Gimelli, Devika Ganesamoorthy, Ann‐Charlotte Thuresson, Audrey Labalme, Marianne Till, Frédéric Bilan, Laurent Pasquier, Alain Kitzis, Christele Dubourgm, Massimiliano Rossi, Armand Bottani, Maryline Gagnebin, Damien Sanlaville, Brigitte Gilbert‐Dussardier, Michel Guipponi, Arie van Haeringen, Marjolein Kriek, Claudia Ruivenkamp, Stylianos E. Antonarakis, Britt Marie Anderlid, Howard R. Slater, Jacqueline Schoumans

    Publicado em 2013
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  10. 10
    Primrose syndrome: Characterization of the phenotype in 42 patients

    Primrose syndrome: Characterization of the phenotype in 42 patients Por Daniela Melis, Daniel R. Carvalho, Tina Barbaro‐Dieber, Alberto J. Espay, Michael J. Gambello, Blanca Gener, Erica H. Gerkes, Marrit M. Hitzert, Hanne Hove, Sandra Jansen, Petr Jira, Katherine Lachlan, Leonie A. Menke, Vinodh Narayanan, Damara Ortiz, Eline Overwater, Renata Posmyk, Keri Ramsey, Alessandro Rossi, Renata Lazari Sandoval, Constance T. R. M. Stumpel, Kyra E. Stuurman, Viviana Cordeddu, Peter D. Turnpenny, Pietro Strisciuglio, Marco Tartaglia, Sheela Unger, Todd Waters, Clare Turnbull, Raoul C. M. Hennekam

    Publicado em 2020
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  11. 11
    High Yield of Pathogenic Germline Mutations Causative or Likely Causative of the Cancer Phenotype in Selected Children with Cancer

    High Yield of Pathogenic Germline Mutations Causative or Likely Causative of the Cancer Phenotype in Selected Children with Cancer Por Illja J. Diets, Esmé Waanders, Marjolijn J. L. Ligtenberg, Diede A.G. van Bladel, Eveline J. Kamping, Peter M. Hoogerbrugge, Saskia Hopman, Maran J.W. Olderode-Berends, Erica H. Gerkes, David A. Koolen, Carlo Marcelis, Gijs W.E. Santen, Martine J. van Belzen, Dylan Mordaunt, Lesley McGregor, Elizabeth Thompson, Antonis Kattamis, Agata Pastorczak, Wojciech Młynarski, Denisa Ilenčíková, Anneke Vulto- van Silfhout, Thatjana Gardeitchik, Eveline S. de Bont, Jan Loeffen, Anja Wagner, Arjen R. Mensenkamp, Roland P. Kuiper, Nicoline Hoogerbrugge, Marjolijn C.J. Jongmans

    Publicado em 2018
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  12. 12
    Improving the diagnostic yield of exome- sequencing by predicting gene–phenotype associations using large-scale gene expression analysis

    Improving the diagnostic yield of exome- sequencing by predicting gene–phenotype associations using large-scale gene expression analysis Por Patrick Deelen, Sipko van Dam, Johanna C. Herkert, Juha Karjalainen, Harm Brugge, Kristin M. Abbott, Cleo C. van Diemen, Paul A. van der Zwaag, Erica H. Gerkes, Evelien Zonneveld‐Huijssoon, Jelkje J. de Boer-Bergsma, Pytrik Folkertsma, Tessa E. Gillett, K. Joeri van der Velde, Roan Kanninga, Peter C. van den Akker, Sabrina Z. Jan, Edgar T. Hoorntje, Wouter P. te Rijdt, Yvonne J. Vos, Jan D.H. Jongbloed, Conny M.A. van Ravenswaaij‐Arts, Richard J. Sinke, Birgit Sikkema‐Raddatz, Wilhelmina S. Kerstjens‐Frederikse, Morris A. Swertz, Lude Franke

    Publicado em 2019
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  13. 13
    De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder

    De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder Por Davor Lessel, Claudia Schob, Sébastien Küry, Margot R.F. Reijnders, Tamar Harel, Mohammad K. Eldomery, Zeynep Coban‐Akdemir, Jonas Denecke, Simon Edvardson, Estelle Colin, Alexander P.A. Stegmann, Erica H. Gerkes, Marine Tessarech, Dominique Bonneau, Magalie Barth, Thomas Besnard, Benjamin Cogné, Anya Revah‐Politi, Tim M. Strom, Jill A. Rosenfeld, Yaping Yang, Jennifer E. Posey, LaDonna Immken, Nelly Jouayed Oundjian, Katherine L. Helbig, Naomi Meeks, Kelsey Zegar, Jenny Morton, Jolanda Schieving, Ana M. Claasen, Matthew J. Huentelman, Vinodh Narayanan, Keri Ramsey, Han G. Brunner, Orly Elpeleg, Sandra Mercier, Stéphane Bézieau, Christian Kubisch, Tjitske Kleefstra, Stefan Kindler, James R. Lupski, Hans‐Jürgen Kreienkamp

    Publicado em 2017
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  14. 14
    Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases

    Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases Por Nancy Végas, Zeynep Demir, Christopher T. Gordon, Sylvain Breton, Vanessa Luiza Romanelli Tavares, Hugo Moisset, Roseli Maria Zechi‐Ceide, Nancy Mizue Kokitsu‐Nakata, Yasuhiro Kido, Sandrine Marlin, Souad Gherbi Halem, Ilse Meerschaut, Bert Callewaert, Brian Hon‐Yin Chung, Nicole Revençu, Daphné Lehalle, Florence Petit, Evan J. Propst, Blake C. Papsin, John H. Phillips, Linda P. Jakobsen, Pauline Le Tanno, Julien Thévenon, Julie McGaughran, Erica H. Gerkes, Chiara Leoni, Peter M. Kroisel, Tiong Yang Tan, Alex Henderson, Paulien A. Terhal, Lina Basel‐Vanagaite, A. Alkindy, Susan M. White, Maria Rita Passos‐Bueno, Véronique Pingault, Loïc de Pontual, Jeanne Amiel

    Publicado em 2022
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  15. 15
    Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome

    Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome Por Christopher T. Gordon, Alice Vuillot, Sandrine Marlin, Erica H. Gerkes, Alex Henderson, Adila Al‐Kindy, Muriel Holder‐Espinasse, Sarah Park, Asma Omarjee, Mateo Sanchis-Borja, Eya Ben Bdira, Myriam Oufadem, Birgit Sikkema‐Raddatz, A. Stewart, Rodger Palmer, Ruth McGowan, Florence Petit, Bruno Delobel, Michael R. Speicher, Paul Aurora, David Kilner, P. Pellerin, Marie Simon, Jean‐Paul Bonnefont, Edward S. Tobias, Sixto García‐Miñaúr, Maria Bitner‐Glindzicz, Pernille Lindholm, Brigitte A. Meijer, Véronique Abadie, Françoise Denoyelle, Marie-Paule Vazquez, C Rotky-Fast, V. Couloigner, S. Pierrot, Y Manac'h, Sylvain Breton, Yvonne Hendriks, Arnold Münnich, Linda P. Jakobsen, Peter M. Kroisel, Angela E. Lin, Leonard B. Kaban, Lina Basel‐Vanagaite, Louise C. Wilson, Michael L. Cunningham, Stanislas Lyonnet, Jeanne Amiel

    Publicado em 2013
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  16. 16
    The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant

    The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant Por David A. Koolen, Rolph Pfundt, Katrin Linda, Gea Beunders, Hermine E. Veenstra‐Knol, Jessie H. Conta, Ana María Fortuna, Gabriele Gillessen‐Kaesbach, Sarah Dugan, Sara Halbach, Omar Abdul‐Rahman, Heather M Winesett, Wendy K. Chung, Marguerite B. Dalton, Petia Dimova, Teresa Mattina, Katrina Prescott, Hui Z. Zhang, Howard M. Saal, Jayne Y. Hehir‐Kwa, Marjolein H. Willemsen, Charlotte W. Ockeloen, Marjolijn C.J. Jongmans, Nathalie Van der Aa, Pinella Failla, Concetta Barone, Emanuela Avola, Alice S. Brooks, Sarina G. Kant, Erica H. Gerkes, Helen V. Firth, Katrin Õunap, Lynne M. Bird, Diane Masser‐Frye, Jennifer Friedman, Modupe A Sokunbi, Abhijit Dixit, Miranda Splitt, Mary K. Kukolich, Julie McGaughran, Bradley P. Coe, Jesús Flórez, Nael Nadif Kasri, Han G. Brunner, Elizabeth M. Thompson, Jozef Gécz, Corrado Romano, Evan E. Eichler, Bert BA de Vries

    Publicado em 2015
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  17. 17
    Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies

    Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies Por Peer Arts, Annet Simons, Mofareh AlZahrani, Elanur Yılmaz, Eman AlIdrissi, Koen van Aerde, Njood Alenezi, Hamza AlGhamdi, Hadeel AlJubab, Abdulrahman Al‐Hussaini, Fahad AlManjomi, Alaa Alsaad, Badr Alsaleem, Abdulrahman Andijani, Ali Asery, Walid Ballourah, Chantal P. Bleeker‐Rovers, Marcel van Deuren, Michiel van der Flier, Erica H. Gerkes, Christian Gilissen, Murad Habazi, Jayne Y. Hehir‐Kwa, Stefanie Henriet, Esther Hoppenreijs, Sarah Hortillosa, Chantal Kerkhofs, Riikka Keski‐Filppula, Stefan H. Lelieveld, Khurram Lone, Marius MacKenzie, Arjen R. Mensenkamp, Jukka S. Moilanen, Marcel Nelen, Jaap ten Oever, Judith Potjewijd, Pieter van Paassen, Janneke Schuurs-Hoeijmakers, Anna Simon, Tomasz Stokowy, Maartje van de Vorst, Maaike Vreeburg, Anja Wagner, Gijs T. J. van Well, Dimitra Zafeiropoulou, Evelien Zonneveld‐Huijssoon, Joris A. Veltman, Wendy A.G. van Zelst–Stams, Eissa Faqeih, Frank L. van de Veerdonk, Mihai G. Netea, Alexander Hoischen

    Publicado em 2019
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  18. 18
    Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder

    Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder Por 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

    Publicado em 2022
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  19. 19
    PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights

    PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights Por Devon L. Johnstone, Hilal H. Al-Shekaili, Maja Tarailo‐Graovac, Nicole I. Wolf, Autumn S. Ivy, Scott Demarest, Yann Roussel, Jolita Čiapaitė, Carlo W.T. van Roermund, Kristin D. Kernohan, Ceres Kosuta, Kevin Ban, Yoko Itō, Skye McBride, Khalid Al‐Thihli, Rana Abdelrahim, Roshan Koul, Amna Al‐Futaisi, Charlotte A. Haaxma, Heather E. Olson, Laufey Yr Sigurdardottir, Georgianne L. Arnold, Erica H. Gerkes, M. E. Boon, M. Rebecca Heiner‐Fokkema, Sandra Noble, Marjolein Bosma, Judith Jans, David A. Koolen, Erik-Jan Kamsteeg, Britt I. Drögemöller, Colin J.D. Ross, Jacek Majewski, Megan T. Cho, Amber Begtrup, Wyeth W. Wasserman, Tuan V. Bui, Elise Brimble, Sara Violante, Sander M. Houten, Ron A. Wevers, Martijn van Faassen, Ido P. Kema, Nathalie Lepage, Matthew A. Lines, David A. Dyment, Ronald J. A. Wanders, Nanda M. Verhoeven‐Duif, Marc Ekker, Kym M. Boycott, Jan M. Friedman, Izabella A. Pena, Clara D.M. van Karnebeek

    Publicado em 2018
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  20. 20
    Germline AGO2 mutations impair RNA interference and human neurological development

    Germline AGO2 mutations impair RNA interference and human neurological development Por 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

    Publicado em 2020
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