检索结果 - Johanna C. Herkert

  • Showing 1 - 16 results of 16
Refine Results
  1. 1
    Compound heterozygous or homozygous truncating MYBPC3 mutations cause lethal cardiomyopathy with features of noncompaction and septal defects

    Compound heterozygous or homozygous truncating MYBPC3 mutations cause lethal cardiomyopathy with features of noncompaction and septal defects 由 Marja W. Wessels, Johanna C. Herkert, Ingrid M.E. Frohn-Mulder, Michiel Dalinghaus, Arthur van den Wijngaard, Ronald R. de Krijger, Michelle Michels, I.F.M. de Coo, Yvonne M. Hoedemaekers, Dennis Dooijes

    出版 2014
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:
  2. 2
    Paediatric intestinal cancer and polyposis due to bi-allelic PMS2 mutations: Case series, review and follow-up guidelines

    Paediatric intestinal cancer and polyposis due to bi-allelic PMS2 mutations: Case series, review and follow-up guidelines 由 Johanna C. Herkert, Renée C. Niessen, Maria J.W. Olderode-Berends, Hermine E. Veenstra‐Knol, Yvonne J. Vos, Heleen M. van der Klift, René Scheenstra, Carli M.J. Tops, Arend Karrenbeld, Frans Peters, Robert M.W. Hofstra, Jan H. Kleibeuker, Rolf H. Sijmons

    出版 2011
    获取全文
    Revisão
    加到收藏夹
    Saved in:
  3. 3
    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 由 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

    出版 2011
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:
  4. 4
    De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment

    De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment 由 Maja Hempel, Kirsten Cremer, Charlotte W. Ockeloen, Klaske D. Lichtenbelt, Johanna C. Herkert, Jonas Denecke, Tobias B. Haack, Alexander M. Zink, Jessica Becker, Eva Wohlleber, Jessika Johannsen, Bader Alhaddad, Rolph Pfundt, Sigrid Fuchs, Dagmar Wieczorek, Tim M. Strom, Koen L.I. van Gassen, Tjitske Kleefstra, Christian Kubisch, Hartmut Engels, Davor Lessel

    出版 2015
    获取全文
    Artigo
    加到收藏夹
    Saved in:
  5. 5
    Calibration of Multiple In Silico Tools for Predicting Pathogenicity of Mismatch Repair Gene Missense Substitutions

    Calibration of Multiple In Silico Tools for Predicting Pathogenicity of Mismatch Repair Gene Missense Substitutions 由 Bryony A. Thompson, Marc S. Greenblatt, Maxime Vallée, Johanna C. Herkert, Chloé Tessereau, Erin L. Young, Ivan Adzhubey, Biao Li, Russell Bell, Bing Feng, Sean D. Mooney, Predrag Radivojac, Shamil Sunyaev, Thierry Frébourg, Robert M.W. Hofstra, Rolf H. Sijmons, Kenneth M. Boucher, Alun Thomas, David E. Goldgar, Amanda B. Spurdle, Sean V. Tavtigian

    出版 2012
    获取全文
    Artigo
    加到收藏夹
    Saved in:
  6. 6
    Toward an effective exome-based genetic testing strategy in pediatric dilated cardiomyopathy

    Toward an effective exome-based genetic testing strategy in pediatric dilated cardiomyopathy 由 Johanna C. Herkert, Kristin M. Abbott, Erwin Birnie, Martine T. Meems-Veldhuis, Ludolf G. Boven, Marloes Benjamins, Gideon J. du Marchie Sarvaas, Daniela Q.C.M. Barge‐Schaapveld, J. Peter van Tintelen, Paul A. van der Zwaag, Yvonne J. Vos, Richard J. Sinke, Maarten P. van den Berg, Irene M. van Langen, Jan D.H. Jongbloed

    出版 2018
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:
  7. 7
    Rapid Targeted Genomics in Critically Ill Newborns

    Rapid Targeted Genomics in Critically Ill Newborns 由 Cleo C. van Diemen, Wilhelmina S. Kerstjens‐Frederikse, Klasien A. Bergman, Tom J. de Koning, Birgit Sikkema‐Raddatz, Joeri K. van der Velde, Kristin M. Abbott, Johanna C. Herkert, Katharina Löhner, Patrick Rump, Martine T. Meems-Veldhuis, Pieter B. Neerincx, Jan D.H. Jongbloed, Conny M.A. van Ravenswaaij‐Arts, Morris A. Swertz, Richard J. Sinke, Irene M. van Langen, Cisca Wijmenga

    出版 2017
    获取全文
    Artigo
    加到收藏夹
    Saved in:
  8. 8
    De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic developmental defects

    De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic developmental de... 由 Anne Slavotinek, Maurizio Risolino, Marta Losa, Megan T. Cho, Kristin G. Monaghan, Dina Schneidman‐Duhovny, Sarah Parisotto, Johanna C. Herkert, Alexander P.A. Stegmann, Kathryn Miller, Natasha Shur, Jacqueline Chui, Eric Muller, Suzanne D. DeBrosse, Justin O. Szot, Gavin Chapman, Nicholas Pachter, David S. Winlaw, Bryce A. Mendelsohn, Joline Dalton, Kyriakie Sarafoglou, Peter Karachunski, Jane M. Lewis, Hélio Pedro, Sally L. Dunwoodie, Licia Selleri, Joseph T.C. Shieh

    出版 2017
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:
  9. 9
    Novel variants in the SOX11 gene: additional evidence for the involvement of SOX11 in hypogonadotropic hypogonadism

    Novel variants in the SOX11 gene: additional evidence for the involvement of SOX11 in hypogonadotropic hypogonadism 由 Társis Paiva Vieira, Beatriz Schincariol-Manhe, Érica Campagnolo, Samira Spineli‐Silva, Nicole de Leeuw, Gabriela Roldão Correia‐Costa, André Luiz Santos Pessoa, Carolina Fischinger Moura de Souza, Cathy A. Stevens, Poupak Javaher, Helena Scallet, Julia Mohr, Saskia Biskup, Johanna C. Herkert, Rolph Pfundt, Lakshmi Mehta, Aisha Rekab, Houda Zghal Elloumi, Andréa Trevas Maciel‐Guerra, Vera Lúcia Gil‐da‐Silva‐Lopes, Ana dos Santos, May Sanyoura

    出版 2024
    获取全文 获取全文
    Pré-impressão
    加到收藏夹
    Saved in:
  10. 10
    De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome

    De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome 由 Sandra Jansen, Sinje Geuer, Rolph Pfundt, Rachel Brough, Priyanka Ghongane, Johanna C. Herkert, Elysa J. Marco, Marjolein H. Willemsen, Tjitske Kleefstra, Mark C. Hannibal, Joseph T.C. Shieh, Sally Ann Lynch, Frances Flinter, David Fitzpatrick, Alice Gardham, Birgitta Bernhard, Nicola Ragge, Ruth Newbury‐Ecob, Raphael Bernier, Malin Kvarnung, Elin Magnusson, Marja W. Wessels, Marjon A. van Slegtenhorst, Kristin G. Monaghan, Petra de Vries, Joris A. Veltman, Christopher J. Lord, Lisenka E.L.M. Vissers, Bert B.A. de Vries

    出版 2017
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:
  11. 11
    Lifelines COVID-19 cohort: investigating COVID-19 infection and its health and societal impacts in a Dutch population-based cohort

    Lifelines COVID-19 cohort: investigating COVID-19 infection and its health and societal impacts in a Dutch population-based cohort 由 Katherine McIntyre, Pauline Lanting, Patrick Deelen, Henry H. Wiersma, Judith M. Vonk, Anil P. S. Ori, Soesma A. Jankipersadsing, Robert Warmerdam, Irene V. van Blokland, Floranne Boulogne, Marjolein X.L. Dijkema, Johanna C. Herkert, Annique Claringbould, Olivier B. Bakker, Esteban A. Lopera-Maya, Ute Bültmann, Alexandra Zhernakova, Sijmen A. Reijneveld, Elianne Zijlstra, Morris A. Swertz, Sandra Brouwer, Raun van Ooijen, Viola Angelini, Louise H. Dekker, Anna Sijtsma, Sicco A. Scherjon, Cisca Wijmenga, Jackie Dekens, Jochen O. Mierau, H. Marike Boezen, Lude Franke

    出版 2021
    获取全文
    Artigo
    加到收藏夹
    Saved in:
  12. 12
    Biallelic Truncating Mutations in ALPK3 Cause Severe Pediatric Cardiomyopathy

    Biallelic Truncating Mutations in ALPK3 Cause Severe Pediatric Cardiomyopathy 由 Rowida Almomani, Judith M.A. Verhagen, Johanna C. Herkert, Erwin Brosens, Karin Y. van Spaendonck‐Zwarts, Angeliki Asimaki, Paul A. van der Zwaag, Ingrid M.E. Frohn-Mulder, Aida M. Bertoli‐Avella, Ludolf G. Boven, Marjon A. van Slegtenhorst, Jasper J. van der Smagt, Wilfred F. J. van IJcken, Bert Timmer, Margriet van Stuijvenberg, Robert M. Verdijk, Jeffrey E. Saffitz, Frederik A. du Plessis, Michelle Michels, Robert M.W. Hofstra, Richard J. Sinke, J. Peter van Tintelen, Marja W. Wessels, Jan D.H. Jongbloed, Ingrid M.B.H. van de Laar

    出版 2016
    获取全文
    Artigo
    加到收藏夹
    Saved in:
  13. 13
    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 由 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

    出版 2019
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:
  14. 14
    Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome

    Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome 由 Saskia M. Maas, Adam Shaw, Hennie Bikker, H.-J. Lüdecke, Karin van der Tuin, Magdalena Badura‐Stronka, Elga Fabia Belligni, Elisa Biamino, Maria Teresa Bonati, Daniel R. Carvalho, Jan-Maarten Cobben, de Man, Nicolette S. den Hollander, Nataliya Di Donato, Livia Garavelli, Sabine Grønborg, Johanna C. Herkert, A. Jeannette M. Hoogeboom, Aleksander Jamsheer, Anna Latos‐Bieleńska, Anneke Maat‐Kievit, Cinzia Magnani, Carlo Marcelis, Inge B. Mathijssen, Maartje Nielsen, Ellen Otten, Lilian Bomme Ousager, Jacek Pilch, Astrid S. Plomp, Gemma Poke, Anna Poluha, Renata Posmyk, Claudine Rieubland, Margharita Silengo, Marleen Simon, Elisabeth Steichen, Connie T. R. M. Stumpel, Katalin Szakszon, Edit Polonkai, Jenneke van den Ende, Antony van der Steen, Ton van Essen, Arie van Haeringen, Johanna M. van Hagen, Joanne Verheij, Marcel M.A.M. Mannens, Raoul C. M. Hennekam

    出版 2015
    获取全文
    Artigo
    加到收藏夹
    Saved in:
  15. 15
    A study of the clinical and radiological features in a cohort of 93 patients with a <i>COL2A1</i> mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype

    A study of the clinical and radiological features in a cohort of 93 patients with a <i>COL2A1</i> mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype 由 Paulien A. Terhal, Rutger Jan Nievelstein, Eva J. J. Verver, Vedat Topsakal, Paula van Dommelen, Kristien Hoornaert, Martine Le Merrer, Andreas Zankl, Marleen Simon, Sarah Smithson, Carlo Marcelis, Bronwyn Kerr, Jill Clayton‐Smith, Esther Kinning, Sahar Mansour, Frances Elmslie, Linda Goodwin, Annemarie H. van der Hout, Hermine E. Veenstra‐Knol, Johanna C. Herkert, Allan M. Lund, Raoul C. M. Hennekam, André Mégarbané, Melissa Lees, Louise C. Wilson, Alison Male, Jane A. Hurst, Yasemin Alanay, Göran Annerén, Regina C. Betz, Ernie M.H.F. Bongers, Valérie Cormier‐Daire, Anne Dieux, Albert David, Mariet W. Elting, Jenneke van den Ende, Andrew Green, Johanna M. van Hagen, Niels Thomas Hertel, Muriel Holder‐Espinasse, Nicolette S. den Hollander, Tessa Homfray, Hanne Hove, Susan Price, Annick Raas‐Rothschild, Marianne Rohrbach, Barbara Schroeter, Mohnish Suri, Elizabeth M. Thompson, Edward S. Tobias, Annick Toutain, Maaike Vreeburg, Emma Wakeling, Nine Knoers, Paul Coucke, Geert Mortier

    出版 2015
    获取全文
    Artigo
    加到收藏夹
    Saved in:
  16. 16
    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 由 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

    出版 2018
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:

检索工具: