Søgeresultater - Patrick Rump

Refine Results
  1. 1
    Essential fatty acid composition of plasma phospholipids and birth weight: a study in term neonates

    Essential fatty acid composition of plasma phospholipids and birth weight: a study in term neonates af Patrick Rump, Ronald P. Mensink, Arnold D.M. Kester, Gerard Hornstra

    Udgivet 2001
    Få fuldtekst Få fuldtekst
    Artigo
    Føj til favoritter
    Saved in:
  2. 2
    Determinants of overweight in a cohort of Dutch children

    Determinants of overweight in a cohort of Dutch children af Neeltje Vogels, D.L.A. Posthumus, Edwin C.M. Mariman, Freek G. Bouwman, Arnold D.M. Kester, Patrick Rump, Gerard Hornstra, Margriet S. Westerterp‐Plantenga

    Udgivet 2006
    Få fuldtekst Få fuldtekst
    Artigo
    Føj til favoritter
    Saved in:
  3. 3
    Mutation screening of the Ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasia

    Mutation screening of the Ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasia af Annemarie H. van der Hout, Grétel G. Oudesluijs, Andrea Venema, Joanne Verheij, Bart Mol, Patrick Rump, Han G. Brunner, Yvonne J. Vos, Anthonie J. van Essen

    Udgivet 2008
    Få fuldtekst Få fuldtekst
    Artigo
    Føj til favoritter
    Saved in:
  4. 4
    Single molecule real time sequencing in ADTKD-MUC1 allows complete assembly of the VNTR and exact positioning of causative mutations

    Single molecule real time sequencing in ADTKD-MUC1 allows complete assembly of the VNTR and exact positioning of causative mutations af Andrea Wenzel, Janine Altmueller, Arif B. Ekici, Bernt Popp, Kurt Stueber, Hölger Thiele, Alois Pannes, Simon Staubach, Eduardo Salido, Peter Nüernberg, Richard Reinhardt, André Reis, Patrick Rump, Franz‐Georg Hanisch, Matthias T. F. Wolf, Michael S. Wiesener, Bruno Hüettel, Bodo B. Beck

    Udgivet 2018
    Få fuldtekst Få fuldtekst
    Artigo
    Føj til favoritter
    Saved in:
  5. 5
    Social responsiveness scale-aided analysis of the clinical impact of copy number variations in autism

    Social responsiveness scale-aided analysis of the clinical impact of copy number variations in autism af Emma van Daalen, Chantal Kemner, Nienke E. Verbeek, Bert van der Zwaag, Trijnie Dijkhuizen, Patrick Rump, Renske H. Houben, Ruben van ‘t Slot, Maretha Jonge, Wouter Staal, Frits A. Beemer, Jacob Vorstman, J. Peter H. Burbach, Hans Kristian Ploos van Amstel, Ron Hochstenbach, Eva H. Brilstra, Martin Poot

    Udgivet 2011
    Få fuldtekst Få fuldtekst
    Artigo
    Føj til favoritter
    Saved in:
  6. 6
    Central 22q11.2 deletions

    Central 22q11.2 deletions af Patrick Rump, Nicole de Leeuw, Anthonie J. van Essen, Corien C. Verschuuren‐Bemelmans, Hermine E. Veenstra‐Knol, Mariëlle E.M. Swinkels, Wilma Oostdijk, Claudia Ruivenkamp, William Reardon, Sonja de Munnik, Mariken Ruiter, Ayala Frumkin, Dorit Lev, Christina Evers, Birgit Sikkema‐Raddatz, Trijnie Dijkhuizen, Conny M.A. van Ravenswaaij‐Arts

    Udgivet 2014
    Få fuldtekst
    Artigo
    Føj til favoritter
    Saved in:
  7. 7
    Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly

    Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly af Patrick Rump, Omid Jazayeri, Krista K. van Dijk-Bos, Lennart Johansson, Anthonie J. van Essen, Johanna B. G. M. Verheij, Hermine E. Veenstra‐Knol, E. Redeker, Marcel M.A.M. Mannens, Morris A. Swertz, Behrooz Z. Alizadeh, Conny M.A. van Ravenswaaij‐Arts, Richard J. Sinke, Birgit Sikkema‐Raddatz

    Udgivet 2015
    Få fuldtekst Få fuldtekst
    Artigo
    Føj til favoritter
    Saved in:
  8. 8
    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 af 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

    Udgivet 2014
    Få fuldtekst
    Artigo
    Føj til favoritter
    Saved in:
  9. 9
    Male patients affected by mosaic PCDH19 mutations: five new cases

    Male patients affected by mosaic PCDH19 mutations: five new cases af Iris Lange, Patrick Rump, Rinze F. Neuteboom, Paul B. Augustijn, K. Hodges, A. I. Kistemaker, Oebele F. Brouwer, Grazia M.S. Mancini, Hadas Newman, Yvonne J. Vos, Katherine L. Helbig, Cacha Peeters‐Scholte, Marjolein Kriek, N. Knoers, Dick Lindhout, Bobby P.C. Koeleman, Marjan J. A. van Kempen, Eva H. Brilstra

    Udgivet 2017
    Få fuldtekst Få fuldtekst
    Artigo
    Føj til favoritter
    Saved in:
  10. 10
    Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction

    Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction af Dov Tiosano, Hagit Baris, Anlu Chen, Marrit M. Hitzert, Markus Schueler, Federico Gulluni, Antje Wiesener, Antonio Bergua, Adi Mory, Brett Copeland, Joseph G. Gleeson, Patrick Rump, Hester van Meer, Deborah A. Sival, Volker Haucke, Josh Kriwinsky, Karl X. Knaup, André Reis, Nadine Hauer, Emilio Hirsch, Ronald Roepman, Rolph Pfundt, Christian T. Thiel, Michael S. Wiesener, Mariam G. Aslanyan, David A. Buchner

    Udgivet 2019
    Få fuldtekst
    Artigo
    Føj til favoritter
    Saved in:
  11. 11
    A molecular and clinical study of Larsen syndrome caused by mutations in FLNB

    A molecular and clinical study of Larsen syndrome caused by mutations in FLNB af Louise S. Bicknell, Claire Farrington‐Rock, Yousef Shafeghati, Patrick Rump, Yasemin Alanay, Yves Alembik, Navid Almadani, Helen V. Firth, Mohamad Hasan Kariminejad, Chong Ae Kim, Kathryn Leask, Melissa K. Maisenbacher, Ellen Moran, John Pappas, Paolo Prontera, Thomy de Ravel, J. P. Fryns, Elizabeth Sweeney, Alan Fryer, Sheila Unger, Louise C. Wilson, Ralph S. Lachman, David L. Rimoin, Daniel H. Cohn, Deborah Krakow, Stephen P. Robertson

    Udgivet 2006
    Få fuldtekst
    Artigo
    Føj til favoritter
    Saved in:
  12. 12
    Rapid Targeted Genomics in Critically Ill Newborns

    Rapid Targeted Genomics in Critically Ill Newborns af 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

    Udgivet 2017
    Få fuldtekst
    Artigo
    Føj til favoritter
    Saved in:
  13. 13
    Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability

    Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability af Stefan H. Lelieveld, Margot R.F. Reijnders, Rolph Pfundt, Helger G. Yntema, Erik‐Jan Kamsteeg, Petra de Vries, Bert B.A. de Vries, Marjolein H. Willemsen, Tjitske Kleefstra, Katharina Löhner, Maaike Vreeburg, Servi J.C. Stevens, Ineke van der Burgt, Ernie M.H.F. Bongers, Alexander P.A. Stegmann, Patrick Rump, Tuula Rinne, Marcel Nelen, Joris A. Veltman, Lisenka E.L.M. Vissers, Han G. Brunner, Christian Gilissen

    Udgivet 2016
    Få fuldtekst
    Revisão
    Føj til favoritter
    Saved in:
  14. 14
    Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation

    Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation af Chris Balak, Marianne Bénard, Élise Schaefer, Sumaiya Iqbal, Keri Ramsey, Michèle Ernoult‐Lange, Francesca Mattioli, Lorida Llaci, Véronique Geoffroy, Maïté Courel, Marcus Naymik, Kristine Bachman, Rolph Pfundt, Patrick Rump, Johanna ter Beest, Ingrid M. Wentzensen, Kristin G. Monaghan, Kirsty McWalter, Ryan Richholt, Antony Le Béchec, Wayne M. Jepsen, Matt De Both, Newell Belnap, Anne Boland, Ignazio S. Piras, Jean‐François Deleuze, Szabolcs Szelinger, Hélène Dollfus, Jamel Chelly, Jean Muller, Arthur J. Campbell, Dennis Lal, Sampathkumar Rangasamy, Jean‐Louis Mandel, Vinodh Narayanan, Matt Huentelman, Dominique Weil, Amélie Piton

    Udgivet 2019
    Få fuldtekst
    Artigo
    Føj til favoritter
    Saved in:
  15. 15
    The genetic basis of DOORS syndrome: an exome-sequencing study

    The genetic basis of DOORS syndrome: an exome-sequencing study af Philippe M. Campeau, Dalia Kasperavičiūtė, James T. Lu, Lindsay C. Burrage, Choel Kim, Mutsuki Hori, Berkley R. Powell, Fiona Stewart, Têmis Maria Félix, Jenneke van den Ende, Marzena Wiśniewska, Hülya Kayserili, Patrick Rump, Sheela Nampoothiri, Salim Aftimos, Antje Mey, Lal D V Nair, Michael L. Begleiter, Isabelle De Bie, Girish Meenakshi, Mitzi L. Murray, Gabriela M. Repetto, Mahin Golabi, Edward Blair, Alison Male, Fabienne Giuliano, Ariana Kariminejad, William G. Newman, Sanjeev S. Bhaskar, Jonathan E. Dickerson, Bronwyn Kerr, Siddharth Banka, Jacques C. Giltay, Dagmar Wieczorek, Anna Tostevin, Joanna Wiszniewska, Sau Wai Cheung, Raoul C. M. Hennekam, Richard A. Gibbs, Brendan Lee, Sanjay M. Sisodiya

    Udgivet 2013
    Få fuldtekst Få fuldtekst
    Artigo
    Føj til favoritter
    Saved in:
  16. 16
    Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features

    Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features af Paweł Stankiewicz, Tahir Naeem Khan, Przemysław Szafrański, Leah Slattery, Haley Streff, Francesco Vetrini, Jonathan A. Bernstein, Chester Brown, Jill A. Rosenfeld, Surya P. Rednam, Sarah Scollon, Katie Bergstrom, D. Williams Parsons, Sharon E. Plon, Marta Wey Vieira, Caio Robledo D’Angioli Costa Quaio, Wagner Antonio da Rosa Baratela, Johanna Acosta, Ruth Armstrong, Sarju Mehta, Patrick Rump, Rolph Pfundt, Raymond Lewandowski, Erica M. Fernandes, Deepali N. Shinde, Sha Tang, Juliane Hoyer, Christiane Zweier, André Reis, Carlos A. Bacino, Rui Xiao, Amy M. Breman, Janice Smith, Nicholas Katsanis, Bret L. Bostwick, Bernt Popp, Erica E. Davis, Yaping Yang

    Udgivet 2017
    Få fuldtekst Få fuldtekst
    Artigo
    Føj til favoritter
    Saved in:
  17. 17
    Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities

    Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities af Fuad Chowdhury, Lei Wang, Mohammed Al‐Raqad, David J. Amor, A Baxová, Šárka Bendová, Elisa Biamino, Alfredo Brusco, Oana Caluseriu, Nancy J. Cox, Tawfiq Froukh, Meral Gunay‐Aygun, Miroslava Hančárová, Devon Haynes, Solveig Heide, George Hoganson, Tadashi Kaname, Boris Keren, Kenjiro Kosaki, Kazuo Kubota, Jennifer Lemons, Maria A. Magriñá, Paul R. Mark, Marie McDonald, Sarah Montgomery, Gina M. Morley, Hidenori Ohnishi, Nobuhiko Okamoto, David Rodriguez‐Buritica, Patrick Rump, Zdeněk Sedláček, Krista Schatz, Haley Streff, Tomoko Uehara, Jagdeep S. Walia, Patricia G. Wheeler, Antje Wiesener, Christiane Zweier, Koichi Kawakami, Ingrid M. Wentzensen, Seema R. Lalani, Victoria Mok Siu, Weimin Bi, Tuğçe B. Balcı

    Udgivet 2021
    Få fuldtekst Få fuldtekst
    Artigo
    Føj til favoritter
    Saved in:
  18. 18
    Variants in<i>CUL4B</i>are Associated with Cerebral Malformations

    Variants in<i>CUL4B</i>are Associated with Cerebral Malformations af Anneke T. Vulto-van Silfhout, Tadashi Nakagawa, Nadia Bahi‐Buisson, Stefan A. Haas, Hao Hu, Melanie Bienek, Lisenka E.L.M. Vissers, Christian Gilissen, Andreas Tzschach, Andreas Busche, Jörg Müsebeck, Patrick Rump, Inge B. Mathijssen, Kristiina Avela, Mirja Somer, Fatma Doagu, Anju K. Philips, Anita Rauch, Alessandra Baumer, Krysta Voesenek, Karine Poirier, Jacqueline Vigneron, Daniel Amram, Sylvie Odent, Magdalena Nawara, Ewa Obersztyn, Jacek Lenart, Agnieszka Charzewska, Nicolas Lebrun, Ute Fischer, Willy M. Nillesen, Helger G. Yntema, Irma Järvelä, Hans-Hilger Ropers, Bert B.A. de Vries, Han G. Brunner, Hans van Bokhoven, F. Lucy Raymond, Michèl A.A.P. Willemsen, Jamel Chelly, Yue Xiong, A. James Barkovich, Vera M. Kalscheuer, Tjitske Kleefstra, Arjan P.M. de Brouwer

    Udgivet 2014
    Få fuldtekst
    Artigo
    Føj til favoritter
    Saved in:
  19. 19
    Mutations in the small nuclear RNA gene RNU2-2 cause a severe neurodevelopmental disorder with prominent epilepsy

    Mutations in the small nuclear RNA gene RNU2-2 cause a severe neurodevelopmental disorder with prominent epilepsy af Daniel Greene, Koenraad De Wispelaere, Jonathan Lees, Marta Codina‐Solà, Brynjar Ö. Jensson, Emma Hales, Andrea Katrinecz, Esther Molina, Sónia Pascoal, Rolph Pfundt, Rachel Schot, Marta Sevilla Porras, Frank Sleutels, Irene Valenzuela, Robin Wijngaard, I. Arroyo Carrera, Giles Atton, Dídac Casas‐Alba, Deirdre E. Donnelly, Anna Duat Rodríguez, Barbara Fernández Garoz, Nicola Foulds, D. Nunez, Elena González Alguacil, Joanna Jarvis, Sarina G. Kant, Irene Madrigal, Antonio F. Martinez-Monseny, Shane McKee, Nelmar Valentina Ortiz‐Cabrera, Leslie Bodi, Andrea Sariego Jamardo, Kāri Stefánsson, Patrick Sulem, Mohnish Suri, Clara D.M. van Karnebeek, Pradeep Vasudevan, Ana Isabel Vega Pajares, Ángel Carracedo, Marc Engelen, Pablo Lapunzina, Natasha P. Morgan, Beatriz Morte, Patrick Rump, Kathleen Stirrups, Eduardo F. Tizzano, Tahsin Stefan Barakat, Michael O’Donoghue, Luis A. Pérez‐Jurado, Kathleen Freson, Andrew Mumford, Ernest Turro

    Udgivet 2025
    Få fuldtekst
    Artigo
    Føj til favoritter
    Saved in:
  20. 20
    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 af 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

    Udgivet 2018
    Få fuldtekst Få fuldtekst
    Artigo
    Føj til favoritter
    Saved in:

Søgeredskaber: