Search Results - Deborah Morris‐Rosendahl

  • Showing 1 - 16 results of 16
Refine Results
  1. 1
    What next-generation sequencing (NGS) technology has enabled us to learn about primary autosomal recessive microcephaly (MCPH)

    What next-generation sequencing (NGS) technology has enabled us to learn about primary autosomal recessive microcephaly (MCPH) by Deborah Morris‐Rosendahl, Angela M. Kaindl

    Published 2015
    Get full text
    Revisão
    Save to List
    Saved in:
  2. 2
    The role of genetics and genomics in clinical psychiatry

    The role of genetics and genomics in clinical psychiatry by Margret R. Hoehe, Deborah Morris‐Rosendahl

    Published 2018
    Get full text
    Artigo
    Save to List
    Saved in:
  3. 3
    Mutation in the V2 vasopressin receptor gene, AVPR2, causes nephrogenic syndrome of inappropriate diuresis

    Mutation in the V2 vasopressin receptor gene, AVPR2, causes nephrogenic syndrome of inappropriate diuresis by László Sándor Erdélyi, W. Alexander Mann, Deborah Morris‐Rosendahl, Ute Groß, Mato Nagel, Péter Várnai, András Balla, László Hunyady

    Published 2015
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  4. 4
    Brief research communication: serotonin transporter (5-HTT) gene polymorphisms are not associated with susceptibility to mood disorders

    Brief research communication: serotonin transporter (5-HTT) gene polymorphisms are not associated with susceptibility to mood disorders by Margret R. Hoehe, Birgit Wendel, Ingrid Grunewald, Pierre Chiaroni, Nicolas Lévy, Deborah Morris‐Rosendahl, Jean-Paul Macher, Thomas Sander, Marc‐Antoine Crocq

    Published 1998
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  5. 5
    EMQN: Recommendations for genetic testing in inherited cardiomyopathies and arrhythmias

    EMQN: Recommendations for genetic testing in inherited cardiomyopathies and arrhythmias by Jesse B.G. Hayesmoore, Zahurul A. Bhuiyan, Domenico Coviello, Desirée du Sart, Matthew Edwards, Maria Iascone, Deborah Morris‐Rosendahl, Katie Sheils, Marjon van Slegtenhorst, Kate Thomson

    Published 2023
    Get full text Get full text
    Revisão
    Save to List
    Saved in:
  6. 6
    Disturbed Wnt Signalling due to a Mutation in CCDC88C Causes an Autosomal Recessive Non-Syndromic Hydrocephalus with Medial Diverticulum

    Disturbed Wnt Signalling due to a Mutation in CCDC88C Causes an Autosomal Recessive Non-Syndromic Hydrocephalus with Medial Diverticulum by Arif B. Ekici, D. Hilfinger, M. Jatzwauk, Christian T. Thiel, Dirk Wenzel, Ivo C. Lorenz, Eugen Boltshauser, TO Goecke, Gundula Staatz, Deborah Morris‐Rosendahl, Heinrich Sticht, Ute Hehr, André Reis, Anita Rauch

    Published 2010
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  7. 7
    New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the Danish

    New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the Danish by Deborah Morris‐Rosendahl, Reeval Segel, A.P. Born, Christoph Conrad, Bart Loeys, Susan Sklower Brooks, Laura S. M. Müller, Christine Zeschnigk, Christina Botti, Ron Rabinowitz, Gökhan Uyanık, Marc‐Antoine Crocq, Uwe Kraus, Ingrid Degen, Fran Faes

    Published 2010
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  8. 8
    CardioClassifier: disease- and gene-specific computational decision support for clinical genome interpretation

    CardioClassifier: disease- and gene-specific computational decision support for clinical genome interpretation by Nicola Whiffin, Roddy Walsh, Risha Govind, Matthew Edwards, Mian Ahmad, Xiaolei Zhang, Upasana Tayal, Rachel Buchan, William Midwinter, Alicja Wilk, Hanna Najgebauer, Catherine Francis, Sam Wilkinson, Thomas Monk, Laura Brett, Declan P. O’Regan, Sanjay Prasad, Deborah Morris‐Rosendahl, Paul J.R. Barton, Elizabeth Edwards, James S. Ware, Stuart A. Cook

    Published 2018
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  9. 9
    <i>BRF1</i> mutations alter RNA polymerase III–dependent transcription and cause neurodevelopmental anomalies

    <i>BRF1</i> mutations alter RNA polymerase III–dependent transcription and cause neurodevelopmental anomalies by Guntram Borck, Friederike Hög, Maria Lisa Dentici, Perciliz L. Tan, Nadine Sowada, Ana Medeira, Lucie Gueneau, Hölger Thiele, Maria Kousi, Francesca Romana Lepri, Larissa Wenzeck, Ian Blumenthal, A. Radicioni, Tito Livio Schwarzenberg, Barbara Mandriani, Rita Fischetto, Deborah Morris‐Rosendahl, Janine Altmüller, Alexandre Reymond, Peter Nürnberg, Giuseppe Merla, Bruno Dallapiccola, Nicholas Katsanis, Patrick Cramer, Christian Kubisch

    Published 2015
    Get full text Get full text
    Errata/Corrigenda
    Save to List
    Saved in:
  10. 10
    Loss-of-Function Mutations in TBC1D20 Cause Cataracts and Male Infertility in blind sterile Mice and Warburg Micro Syndrome in Humans

    Loss-of-Function Mutations in TBC1D20 Cause Cataracts and Male Infertility in blind sterile Mice and Warburg Micro Syndrome in Humans by Ryan P. Liegel, Mark T. Handley, Adam Ronchetti, S.D.M. Brown, Lars Langemeyer, Andrea Linford, Bo Chang, Deborah Morris‐Rosendahl, Sarah M. Carpanini, Renata Posmyk, Verity Harthill, Eamonn Sheridan, Ghada M. H. Abdel‐Salam, Paulien A. Terhal, Francesca Faravelli, Patrizia Accorsi, Lucio Giordano, Lorenzo Pinelli, Britta Hartmann, Allison D. Ebert, Francis A. Barr, Irene A. Aligianis, D.J. Sidjanin

    Published 2013
    Get full text
    Artigo
    Save to List
    Saved in:
  11. 11
    Novel Mutations Including Deletions of the Entire<i>OFD1</i>Gene in 30 Families with Type 1 Orofaciodigital Syndrome: A Study of the Extensive Clinical Variability

    Novel Mutations Including Deletions of the Entire<i>OFD1</i>Gene in 30 Families with Type 1 Orofaciodigital Syndrome: A Study of the Extensive Clinical Variability by Izak Johannes Bisschoff, Christine Zeschnigk, Denise Horn, Brigitte Wellek, Angelika Rieß, M.W. Wessels, P J Willems, Peter Bjødstrup Jensen, Andreas Busche, Jens Bekkebraten, Maya Chopra, Hanne Hove, Christina Evers, Ketil Heimdal, Ann-Sophie Kaiser, Erdmut Kunstmann, Kristina Lagerstedt‐Robinson, Maja Linné, Patricia Martín, James McGrath, Winnie Pradel, Katrina Prescott, Bernd Roesler, Goražd Rudolf, Ulrike Siebers‐Renelt, Nataliya Tyshchenko, Dagmar Wieczorek, G. Wolff, William B. Dobyns, Deborah Morris‐Rosendahl

    Published 2012
    Get full text
    Artigo
    Save to List
    Saved in:
  12. 12
    Topological data analysis reveals genotype–phenotype relationships in primary ciliary dyskinesia

    Topological data analysis reveals genotype–phenotype relationships in primary ciliary dyskinesia by Amelia Shoemark, Bruna Rubbo, Marie Legendre, Mahmoud R. Fassad, Eric G. Haarman, Sunayna Best, Irma Bon, Joost Brandsma, Pierre‐Régis Burgel, Gunnar Carlsson, S.B. Carr, Mary Carroll, Matthew Edwards, Estelle Escudier, Isabelle Honoré, David Hunt, Grégory Jouvion, Michel R. Loebinger, Bernard Maître, Deborah Morris‐Rosendahl, Jean‐François Papon, Camille Parsons, Mitali Patel, N. Simon Thomas, Guillaume Thouvenin, Woolf T. Walker, Robert Wilson, Claire Hogg, Hannah M. Mitchison, Jane S. Lucas

    Published 2021
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  13. 13
    Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly–capillary malformation syndrome

    Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly–capillary malformation syndrome by Laura M. McDonell, Ghayda Mirzaa, Diana Alcantara, Jeremy Schwartzentruber, Melissa T. Carter, Leo J. Lee, Carol L. Clericuzio, John M. Graham, Deborah Morris‐Rosendahl, Tilman Polster, Gyula Acsádi, Sharron Townshend, Simon Williams, Anne Halbert, Bertrand Isidor, Albert David, Christopher D. Smyser, Alex R. Paciorkowski, Marcia Willing, John Woulfe, Soma Das, Chandree L. Beaulieu, Janet Marcadier, Michael T. Geraghty, Brendan J. Frey, Jacek Majewski, Dennis E. Bulman, William B. Dobyns, Mark O’Driscoll, Kym M. Boycott

    Published 2013
    Get full text
    Artigo
    Save to List
    Saved in:
  14. 14
    Clinical utility of NGS diagnosis and disease stratification in a multiethnic primary ciliary dyskinesia cohort

    Clinical utility of NGS diagnosis and disease stratification in a multiethnic primary ciliary dyskinesia cohort by Mahmoud R. Fassad, Mitali Patel, Amelia Shoemark, Thomas Cullup, Jane Hayward, Mellisa Dixon, Andrew V. Rogers, Sarah Ollosson, Claire L. Jackson, Patricia Goggin, Robert A. Hirst, Andrew Rutman, James Thompson, Lucy Jenkins, Paul Aurora, Eduardo Moya, Philip Chetcuti, Chris O’Callaghan, Deborah Morris‐Rosendahl, Christopher M. Watson, Robert Wilson, S.B. Carr, Woolf Walker, Andreia Pitno, Susana S. Lopes, Heba Morsy, Walaa Shoman, L. Pereira, Carolina Constant, Michael R. Loebinger, Eddie M.K. Chung, Priti Kenia, Nisreen Rumman, Nader Fasseeh, Jane S. Lucas, Claire Hogg, Hannah M. Mitchison

    Published 2019
    Get full text
    Artigo
    Save to List
    Saved in:
  15. 15
    Utility of genome sequencing and group-enrichment to support splice variant interpretation in Marfan syndrome

    Utility of genome sequencing and group-enrichment to support splice variant interpretation in Marfan syndrome by Susan Walker, David J. Bunyan, Huw B. Thomas, Yeşim Kesim, Christopher J. Kershaw, John W. Holloway, Htoo A. Wai, Michael Day, Cassandra L. Smith, Gareth Hawkes, Andrew R. Wood, Michael N. Weedon, Ed Blair, Stephanie Curtis, Catherine Fielden, Julie Evans, Rebecca Whittington, Sarah Smithson, Helen Cox, Paul Clift, Meriel McEntagart, Matina Prapa, Suzanne Alsters, Deborah Morris‐Rosendahl, John Dean, Patrick J. Morrison, Abhijit Dixit, Ajoy Sarkar, Katrina Prescott, Leila Amel Riazat Kesh, Ravi Tharakan, Claire Turner, Sian Ellard, Charles Shaw‐Smith, James Fasham, Virginia Clowes, Simon Holden, Suresh Somarathi, Catherine Mercer, Ian Berry, Raymond T. O’Keefe, Siddharth Banka, Diana Baralle, Neil Thomas, Emma L. Baple, Jenny C. Taylor, Alistair T. Pagnamenta

    Published 2025
    Get full text
    Artigo
    Save to List
    Saved in:
  16. 16
    Genome sequencing reveals underdiagnosis of primary ciliary dyskinesia in bronchiectasis

    Genome sequencing reveals underdiagnosis of primary ciliary dyskinesia in bronchiectasis by Amelia Shoemark, Helen Griffin, Gabrielle Wheway, Claire Hogg, Jane S. Lucas, Carlos Camps, Jenny C. Taylor, Mary Carroll, Michael R. Loebinger, James D. Chalmers, Deborah Morris‐Rosendahl, Hannah M. Mitchison, Anthony De Soyza, David E. Brown, John C. Ambrose, Prabhu Arumugam, R. Bevers, Marta Bleda, F. Boardman-Pretty, C. R. Boustred, Helen Brittain, Mark J. Caulfield, G. C. Chan, Tom Fowler, Adam Giess, Angela Hamblin, Shirley Henderson, Tim Hubbard, Richard V. Jackson, J. Louise Jones, Dalia Kasperavičiūtė, Melis Kayikci, Athanasios Kousathanas, L. Lahnstein, S. E. A. Leigh, Ivone Leong, Fabrice Lopez, F. Maleady-Crowe, Meriel McEntagart, Federico Minneci, Loukas Moutsianas, Marcus Mueller, Nirupa Murugaesu, Anna C. Need, Peter O’Donovan, Chris A. Odhams, Christine Patch, D. Perez-Gil, Mariana Buongermino Pereira, J. Pullinger, T. Rahim, Álvaro Rendón, T. Rogers, K. Savage, K. Sawant, Richard H. Scott, Afshan Siddiq, A. Sieghart, Samuel C. Smith, Alona Sosinsky, A. Stuckey, M. Tanguy, Ana Lisa Taylor Tavares, Ellen Thomas, Simon R. Thompson, Arianna Tucci, M. J. Welland, Elyse T. Williams, Katarzyna Witkowska, S. M. Wood

    Published 2022
    Get full text
    Artigo
    Save to List
    Saved in:

Search Tools: