Αποτελέσματα αναζήτησης - Suresh Somarathi

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  1. 1
    Heterozygous truncation mutations of the <i><scp>SMC</scp>1A</i> gene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new cases

    Heterozygous truncation mutations of the <i><scp>SMC</scp>1A</i> gene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new cases από Joseph D. Symonds, Shelagh Joss, Kay Metcalfe, Suresh Somarathi, Jamie Cruden, Anita Devlin, Alan Donaldson, Nataliya Di Donato, David Fitzpatrick, Frank J. Kaiser, Anne Katrin Lampe, Melissa Lees, Ailsa McLellan, Tara Montgomery, Vivek Mundada, Lesley Nairn, Ajoy Sarkar, Jens Schallner, Jelena Pozojevic, Ilaria Parenti, Jeen Tan, Peter D. Turnpenny, William Whitehouse, Sameer M. Zuberi

    Έκδοση 2017
    Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  2. 2
    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 από 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

    Έκδοση 2025
    Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:

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