檢索結果 - Nicholas Lench

  • Showing 1 - 19 results of 19
Refine Results
  1. 1
    Exome sequencing for prenatal diagnosis of fetuses with sonographic abnormalities

    Exome sequencing for prenatal diagnosis of fetuses with sonographic abnormalities 由 Suzanne Drury, Hywel Williams, Natalie Trump, C. R. Boustred, Nicholas Lench, Richard H. Scott, Lyn S. Chitty

    出版 2015
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:
  2. 2
    Non‐invasive prenatal diagnosis of achondroplasia and thanatophoric dysplasia: next‐generation sequencing allows for a safer, more accurate, and comprehensive approach

    Non‐invasive prenatal diagnosis of achondroplasia and thanatophoric dysplasia: next‐generation sequencing allows for a safer, more accurate, and comprehensive approach 由 Lyn S. Chitty, Sarah Mason, Angela N. Barrett, Fiona McKay, Nicholas Lench, Rebecca Daley, Lucy Jenkins

    出版 2015
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:
  3. 3
    A Third Novel Locus for Primary Autosomal Recessive Microcephaly Maps to Chromosome 9q34

    A Third Novel Locus for Primary Autosomal Recessive Microcephaly Maps to Chromosome 9q34 由 Leanne Moynihan, Andrew P. Jackson, Emma Roberts, Gulshan Karbani, Ian Lewis, Peter Corry, G Turner, Robert F. Mueller, Nicholas Lench, C. Geoffrey Woods

    出版 2000
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:
  4. 4
    Targeted gene panel sequencing in children with very early onset inflammatory bowel disease—evaluation and prospective analysis

    Targeted gene panel sequencing in children with very early onset inflammatory bowel disease—evaluation and prospective analysis 由 Jochen Kammermeier, Suzanne Drury, Chela James, Robert Dziubak, Louise Ocaka, Mamoun Elawad, Philip L. Beales, Nicholas Lench, Holm H. Uhlig, Chiara Bacchelli, Neil Shah

    出版 2014
    獲取全文
    Artigo
    加到收藏夾
    Saved in:
  5. 5
    Prostate-specific membrane antigen: evidence for the existence of a second related human gene

    Prostate-specific membrane antigen: evidence for the existence of a second related human gene 由 J.P. Leek, Nicholas Lench, B.H. Maraj, Andy M. Bailey, IM Carr, Stephen Andersen, Justin R. Cross, Patrick Whelan, KA MacLennan, D M Meredith, AF Markham

    出版 1995
    獲取全文
    Artigo
    加到收藏夾
    Saved in:
  6. 6
    The second locus for autosomal recessive primary microcephaly (MCPH2) maps to chromosome 19q13.1–13.2

    The second locus for autosomal recessive primary microcephaly (MCPH2) maps to chromosome 19q13.1–13.2 由 Emma Roberts, Andrew P. Jackson, Abigail C Carradice, V. Jayne Deeble, Jovaria Mannan, Yasmin Abdul Rashid, Hussain Jafri, Duncan P. McHale, Alex Markham, Nicholas Lench, C. Geoffrey Woods

    出版 1999
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:
  7. 7
    Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss

    Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss 由 DA Scott, ML Kraft, Rivka Carmi, A. Ramesh, Khalil Elbedour, Yael Yairi, C. R. Srikumari Srisailapathy, S. Rosengren, AF Markham, Mueller Rf, Nicholas Lench, Guy Van Camp, Richard J. Smith, Val C. Sheffield

    出版 1998
    獲取全文
    Artigo
    加到收藏夾
    Saved in:
  8. 8
    Extent and Distribution of Linkage Disequilibrium in Three Genomic Regions

    Extent and Distribution of Linkage Disequilibrium in Three Genomic Regions 由 Gonçalo R. Abecasis, Emiko Noguchi, Andrea Heinzmann, James A. Traherne, Sumit Bhattacharyya, N. I. Leaves, Gavin Anderson, Youming Zhang, Nicholas Lench, Alisoun H. Carey, Lon R. Cardon, Miriam F. Moffatt, William Cookson

    出版 2001
    獲取全文
    Artigo
    加到收藏夾
    Saved in:
  9. 9
    Evaluation of non-invasive prenatal testing (NIPT) for aneuploidy in an NHS setting: a reliable accurate prenatal non-invasive diagnosis (RAPID) protocol

    Evaluation of non-invasive prenatal testing (NIPT) for aneuploidy in an NHS setting: a reliable accurate prenatal non-invasive diagnosis (RAPID) protocol 由 Melissa Hill, D. Wright, Rebecca Daley, Celine Lewis, Fiona McKay, Sarah Mason, Nicholas Lench, Abigail Howarth, C. R. Boustred, Kitty Lo, Vincent Plagnol, Kevin Spencer, Jane Fisher, Mark Kroese, Stephen Morris, Lyn S. Chitty

    出版 2014
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:
  10. 10
    Primary Autosomal Recessive Microcephaly (MCPH1) Maps to Chromosome 8p22-pter

    Primary Autosomal Recessive Microcephaly (MCPH1) Maps to Chromosome 8p22-pter 由 Andrew P. Jackson, Duncan P. McHale, David A. Campbell, Hussain Jafri, Yasmin Abdul Rashid, Jovaria Mannan, Gulshan Karbani, Peter Corry, Malcolm I. Levene, Robert F. Mueller, A.F. Markham, Nicholas Lench, C. Geoffrey Woods

    出版 1998
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:
  11. 11
    Neurological features of epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome

    Neurological features of epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome 由 J. Helen Cross, Ruchi Arora, Rolf A. Heckemann, Roxana Gunny, Kling Chong, Lucinda Carr, Torsten Baldeweg, Ann‐Marie Differ, Nicholas Lench, S Varadkar, Tony Sirimanna, Evangeline Wassmer, Sally A. Hulton, Miloš Ognjanović, Venkateswaran Ramesh, Sally Feather, Robert Kleta, Alexander Hammers, Detlef Böckenhauer

    出版 2013
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:
  12. 12
    Whole exome sequencing of familial hypercholesterolaemia patients negative for<i>LDLR</i>/<i>APOB</i>/<i>PCSK9</i>mutations

    Whole exome sequencing of familial hypercholesterolaemia patients negative for<i>LDLR</i>/<i>APOB</i>/<i>PCSK9</i>mutations 由 Marta Futema, Vincent Plagnol, KaWah Li, Ros Whittall, H. A. W. Neil, Mary Seed, Stefano Bertolini, S. Calandra, Olivier Descamps, Colin A. Graham, Robert A. Hegele, Fredrik Karpe, Ronen Durst, Eran Leitersdorf, Nicholas Lench, Devaki Nair, Handrean Soran, Frank M. van Bockxmeer, Steve E. Humphries

    出版 2014
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:
  13. 13
    Use of low-density lipoprotein cholesterol gene score to distinguish patients with polygenic and monogenic familial hypercholesterolaemia: a case-control study

    Use of low-density lipoprotein cholesterol gene score to distinguish patients with polygenic and monogenic familial hypercholesterolaemia: a case-control study 由 Philippa J. Talmud, Sonia Shah, Ros Whittall, Marta Futema, Philip Howard, Jackie A. Cooper, Seamus C. Harrison, KaWah Li, Fotios Drenos, Fredrik Karpe, H. A. W. Neil, Olivier Descamps, Claudia Langenberg, Nicholas Lench, Mika Kivimäki, John C. Whittaker, Aroon D. Hingorani, Meena Kumari, Steve E. Humphries

    出版 2013
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:
  14. 14
    Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis

    Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis 由 Carmel Toomes, Jacqueline A. James, Andrew J. Wood, Chu Wu, D. McCormick, Nicholas Lench, Chelsee Hewitt, Leanne Moynihan, Emma Roberts, C. Geoffrey Woods, Alexander F. Markham, Melanie Wong, Richard P Widmer, Khaled Abdel Ghaffar, Michael Pemberton, Ibtessam R. Hussein, Samia A. Temtamy, Robin Davies, Andrew Read, Philip Sloan, Michael J. Dixon, Nalin Thakker

    出版 1999
    獲取全文
    Artigo
    加到收藏夾
    Saved in:
  15. 15
    Exome Sequencing and Rare Variant Analysis Reveals Multiple Filaggrin Mutations in Bangladeshi Families with Atopic Eczema and Additional Risk Genes

    Exome Sequencing and Rare Variant Analysis Reveals Multiple Filaggrin Mutations in Bangladeshi Families with Atopic Eczema and Additional Risk Genes 由 Manuela Pigors, John Common, X.F. Colin C. Wong, Sajid Malik, Claire A. Scott, Niloofar Tabarra, Herty Liany, Jianjun Liu, Vachiranee Limviphuvadh, Sebastian Maurer‐Stroh, Mark BY Tang, Nicholas Lench, David J. Margolis, David A. van Heel, Charles A. Mein, Natalija Novak, Hansjörg Baurecht, Stephan Weidinger, W.H. Irwin McLean, Alan D. Irvine, Edel A. O’Toole, Michael A. Simpson, David P. Kelsell

    出版 2018
    獲取全文 獲取全文
    Carta
    加到收藏夾
    Saved in:
  16. 16
    A comparison of genomic diagnostics in adults and children with epilepsy and comorbid intellectual disability

    A comparison of genomic diagnostics in adults and children with epilepsy and comorbid intellectual disability 由 Katherine A. Benson, Máire White, Nicholas M. Allen, Susan Byrne, Robert Carton, Elizabeth Comerford, Daniel J. Costello, Colin P. Doherty, Brendan Dunleavey, Hany El‐Naggar, Nisha Gangadharan, Sinéad B. Heavin, Hugh Kearney, Nicholas Lench, John Lynch, Mark McCormack, Mary O’ Regan, Karl Podesta, Kevin Power, Anthony Rogers, Charles A. Steward, Brian Sweeney, David Webb, M Fitzsimons, Marie T. Greally, Norman Delanty, Gianpiero L. Cavalleri

    出版 2020
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:
  17. 17
    Prelingual Deafness: High Prevalence of a 30delG Mutation in the Connexin 26 Gene

    Prelingual Deafness: High Prevalence of a 30delG Mutation in the Connexin 26 Gene 由 Françoise Denoyelle, Dominique Weil, Marion A. Maw, S.A. Wilcox, Nicholas Lench, D. R. Allen-Powell, Amelia H. Osborn, H Dahl, Anna Middleton, Mark Houseman, Catherine Dodé, Sandrine Marlin, Amel Boulila‐Elgaied, M’hamed Grati, Hammadi Ayadi, S. Benarab, Pierre Bitoun, Geneviève Lina‐Granade, Jacqueline Godet, Mirna Mustapha, Jacques Loiselet, Elie El‐Zir, Anne Aubois, A Joannard, Jacqueline Levilliers, E.N. Garabédian, R F Mueller, R. J McKinlay Gardner, Christine Petit

    出版 1997
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:
  18. 18
    Diagnostic implications of genetic copy number variation in epilepsy plus

    Diagnostic implications of genetic copy number variation in epilepsy plus 由 Antonietta Coppola, Elena Cellini, Hannah Stamberger, Elmo Saarentaus, Valentina Cetica, Dennis Lal, Tania Djémié, Magdalena Bartnik, Berten Ceulemans, J. Helen Cross, Tine Deconinck, Salvatore De Masi, Thomas Dorn, Renzo Guerrini, Dorotha Hoffman‐Zacharska, R. Frank Kooy, Lieven Lagae, Nicholas Lench, Johannes R. Lemke, Ersilia Lucenteforte, Francesca Madia, Heather C. Mefford, Deborah Morrogh, Peter Nüernberg, Aarno Palotie, An‐Sofie Schoonjans, Pasquale Striano, Elżbieta Szczepanik, Anna Tostevin, Joris Vermeesch, Hilde Van Esch, Wim Van Paesschen, Jonathan J. Waters, Sarah Weckhuysen, Federico Zara, Peter De Jonghe, Sanjay M. Sisodiya, Carla Marini

    出版 2019
    獲取全文 獲取全文
    Revisão
    加到收藏夾
    Saved in:
  19. 19
    <i>CHD2</i>variants are a risk factor for photosensitivity in epilepsy

    <i>CHD2</i>variants are a risk factor for photosensitivity in epilepsy 由 Elizabeth Galizia, Candace T. Myers, Costin Leu, Carolien G. F. de Kovel, Tatiana Afrikanova, María Lorena Cordero-Maldonado, Teresa G. Martins, Maxime Jacmin, Suzanne Drury, Krishna Chinthapalli, Hiltrud Muhle, Manuela Pendziwiat, Thomas Sander, Ann-Kathrin Ruppert, Rikke S. Møller, Hölger Thiele, Roland Krause, Julian Schubert, Anna-Elina Lehesjoki, Peter Nürnberg, Holger Lerche, Aarno Palotie, Antonietta Coppola, Salvatore Striano, Luigi Del Gaudio, C. R. Boustred, Amy L. Schneider, Nicholas Lench, Bosanka Jocić-Jakubi, Athanasios Covanis, Giuseppe Capovilla, Pierangelo Veggiotti, Marta Piccioli, Pasquale Parisi, Laura Cantonetti, Lynette G. Sadleir, Saul A. Mullen, Samuel F. Berkovic, Ulrich Stephani, Ingo Helbig, Alexander D. Crawford, Camila V. Esguerra, Dorothee Kasteleijn‐Nolst Trenité, Bobby P.C. Koeleman, Heather C. Mefford, Ingrid E. Scheffer, Sanjay M. Sisodiya

    出版 2015
    獲取全文
    Artigo
    加到收藏夾
    Saved in:

檢索工具: