Rezultaty - John Tolmie

Redukuj rezultaty
  1. 1
    The Aicardi-Goutieres syndrome (familial, early onset encephalopathy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis).

    The Aicardi-Goutieres syndrome (familial, early onset encephalopathy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis). od John Tolmie, Paul Shillito, R Hughes-Benzie, John B.P. Stephenson

    Wydane 1995
    Dokumenty pełnotekstowe Dokumenty pełnotekstowe
    Revisão
    Dodaj do listy ulubionych książek
    Zapisane w:
  2. 2
    The phenotype of congenital insensitivity to pain due to the NaV1.9 variant p.L811P

    The phenotype of congenital insensitivity to pain due to the NaV1.9 variant p.L811P od C. Geoffrey Woods, Mohamed O E Babiker, Iain Horrocks, John Tolmie, Ingo Kurth

    Wydane 2014
    Dokumenty pełnotekstowe Dokumenty pełnotekstowe
    Carta
    Dodaj do listy ulubionych książek
    Zapisane w:
  3. 3
    Functional and Structural Studies of Wild Type SOX9 and Mutations Causing Campomelic Dysplasia

    Functional and Structural Studies of Wild Type SOX9 and Mutations Causing Campomelic Dysplasia od Sharon G. McDowall, Anthony Argentaro, Shoba Ranganathan, Polly Weller, Sabine Mertin, Sahar Mansour, John Tolmie, Vincent R. Harley

    Wydane 1999
    Dokumenty pełnotekstowe Dokumenty pełnotekstowe
    Artigo
    Dodaj do listy ulubionych książek
    Zapisane w:
  4. 4
    Variable transfer of Y-specific sequences in XX males

    Variable transfer of Y-specific sequences in XX males od Nabeel A. Affara, M.A. Ferguson‐Smith, John Tolmie, KY Kwok, Michael Mitchell, Derek J. Jamieson, April Cook, L. Florentin

    Wydane 1986
    Dokumenty pełnotekstowe
    Artigo
    Dodaj do listy ulubionych książek
    Zapisane w:
  5. 5
    Mapping the testis determinants by an analysis of Y-specific sequences in males with apparent XX and XO karyotypes and females with XY karyotypes

    Mapping the testis determinants by an analysis of Y-specific sequences in males with apparent XX and XO karyotypes and females with XY karyotypes od Nabeel A. Affara, M.A. Ferguson‐Smith, R.E. Magenis, John Tolmie, E. Boyd, Alexander Cooke, Derek J. Jamieson, KY Kwok, Michael Mitchell, L. Snadden

    Wydane 1987
    Dokumenty pełnotekstowe
    Artigo
    Dodaj do listy ulubionych książek
    Zapisane w:
  6. 6
    CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients

    CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients od Hayley Archer, Julie Evans, Stuart W. Edwards, James Colley, Ruth Newbury‐Ecob, Finbar O’Callaghan, Margaret Huyton, M O'Regan, John Tolmie, Julian R. Sampson, Angus Clarke, J. P. Osborne

    Wydane 2006
    Dokumenty pełnotekstowe
    Artigo
    Dodaj do listy ulubionych książek
    Zapisane w:
  7. 7
    Mutations in the general transcription factor TFIIH result in beta-thalassaemia in individuals with trichothiodystrophy

    Mutations in the general transcription factor TFIIH result in beta-thalassaemia in individuals with trichothiodystrophy od Vip Viprakasit, Richard J. Gibbons, Bernard C. Broughton, John Tolmie, David R. Brown, Peter Lunt, R M Winter, S. Marinoni, M Stefanini, L A Brueton, Alan R. Lehmann, Douglas R. Higgs

    Wydane 2001
    Dokumenty pełnotekstowe Dokumenty pełnotekstowe
    Artigo
    Dodaj do listy ulubionych książek
    Zapisane w:
  8. 8
    Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B

    Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B od Sandra Hanks, Kim Coleman, Sarah Reid, Alberto Plaja, Helen V. Firth, David Fitzpatrick, Alexa Kidd, K Méhes, Richard Nash, Nathanial Robin, Nora Shannon, John Tolmie, John Swansbury, Alexandre Irrthum, Jenny Douglas, Nazneen Rahman

    Wydane 2004
    Dokumenty pełnotekstowe Dokumenty pełnotekstowe
    Artigo
    Dodaj do listy ulubionych książek
    Zapisane w:
  9. 9
    Mutations in the Embryonal Subunit of the Acetylcholine Receptor (CHRNG) Cause Lethal and Escobar Variants of Multiple Pterygium Syndrome

    Mutations in the Embryonal Subunit of the Acetylcholine Receptor (CHRNG) Cause Lethal and Escobar Variants of Multiple Pterygium Syndrome od Neil V. Morgan, Louise Brueton, P. Cox, Marie T. Greally, John Tolmie, Shanaz Pasha, Irene A. Aligianis, Hans van Bokhoven, Tamás Marton, Lihadh Al‐Gazali, Jenny E.V. Morton, Christine Oley, Colin A. Johnson, Richard C. Trembath, Han G. Brunner, Eamonn R. Maher

    Wydane 2006
    Dokumenty pełnotekstowe Dokumenty pełnotekstowe
    Artigo
    Dodaj do listy ulubionych książek
    Zapisane w:
  10. 10
    Autosomal Dominant Nocturnal Frontal-Lobe Epilepsy: Genetic Heterogeneity and Evidence for a Second Locus at 15q24

    Autosomal Dominant Nocturnal Frontal-Lobe Epilepsy: Genetic Heterogeneity and Evidence for a Second Locus at 15q24 od Hilary A. Phillips, Ingrid E. Scheffer, Kathryn M. Crossland, Kailash P. Bhatia, D. R. Fish, C. D. Marsden, Stephen Howell, J Stephenson, John Tolmie, Giuseppe Plazzi, Orvar Eeg‐Olofsson, Rita Singh, Íscia Lopes‐Cendes, E. Andermann, Frédérick Andermann, Samuel F. Berkovic, John C. Mulley

    Wydane 1998
    Dokumenty pełnotekstowe Dokumenty pełnotekstowe
    Artigo
    Dodaj do listy ulubionych książek
    Zapisane w:
  11. 11
    Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams–Oliver Syndrome With Variable Cardiac Anomalies

    Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams–Oliver Syndrome With Variable Cardiac Anomalies od Laura Southgate, Maja Sukalo, Anastasios Stylianos Karountzos, Edward J. Taylor, Claire Collinson, Deborah Ruddy, Katie Snape, Bruno Dallapiccola, John Tolmie, Shelagh Joss, Francesco Brancati, M. Cristina Digilio, Luitgard Graul‐Neumann, Leonardo Salviati, Wiltrud Coerdt, Emmanuel Jacquemin, Wim Wuyts, Martin Zenker, Rajiv D. Machado, Richard C. Trembath

    Wydane 2015
    Dokumenty pełnotekstowe
    Artigo
    Dodaj do listy ulubionych książek
    Zapisane w:
  12. 12
    Mutations in CEP57 cause mosaic variegated aneuploidy syndrome

    Mutations in CEP57 cause mosaic variegated aneuploidy syndrome od Katie Snape, Sandra Hanks, Elise Ruark, Patricio Barros‐Núñez, Anna Elliott, Anne R. Murray, Andrew Lane, Nora Shannon, Patrick Callier, David Chitayat, Jill Clayton‐Smith, David Fitzpatrick, David Gisselsson, Sébastien Jacquemont, Keiko Asakura-Hay, Mark A. Micale, John Tolmie, Peter D. Turnpenny, Michael Wright, Jenny Douglas, Nazneen Rahman

    Wydane 2011
    Dokumenty pełnotekstowe
    Artigo
    Dodaj do listy ulubionych książek
    Zapisane w:
  13. 13
    Erratum: Corrigendum to: CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes

    Erratum: Corrigendum to: CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes od Anna Hackett, Patrick Tarpey, Andrea Licata, James J. Cox, Annabel Whibley, Jackie Boyle, Carolyn Rogers, John Grigg, M. W. Partington, Roger E. Stevenson, John Tolmie, John R.W. Yates, Gillian Turner, Meredith Wilson, P. Andrew Futreal, Mark Corbett, Marie Shaw, Jozef Gécz, F. Lucy Raymond, Michael R. Stratton, Charles E. Schwartz, Fatima Abidi

    Wydane 2010
    Dokumenty pełnotekstowe Dokumenty pełnotekstowe
    Errata/Corrigenda
    Dodaj do listy ulubionych książek
    Zapisane w:
  14. 14
    Mutations in STRA6 Cause a Broad Spectrum of Malformations Including Anophthalmia, Congenital Heart Defects, Diaphragmatic Hernia, Alveolar Capillary Dysplasia, Lung Hypoplasia, and Mental Retardation

    Mutations in STRA6 Cause a Broad Spectrum of Malformations Including Anophthalmia, Congenital Heart Defects, Diaphragmatic Hernia, Alveolar Capillary Dysplasia, Lung Hypoplasia, an... od Francesca Pasutto, Heinrich Sticht, G. Hammersen, Gabriele Gillessen‐Kaesbach, David Fitzpatrick, Gudrun Nürnberg, Frank Brasch, Heidemarie Schirmer-Zimmermann, John Tolmie, David Chitayat, Gunnar Houge, Lorena T. Fernández‐Martínez, Sarah Keating, Geert Mortier, Raoul C. M. Hennekam, A von der Wense, Anne Slavotinek, Peter Meinecke, Pierre Bitoun, Christian Becker, Peter Nürnberg, André Reis, Anita Rauch

    Wydane 2007
    Dokumenty pełnotekstowe Dokumenty pełnotekstowe
    Artigo
    Dodaj do listy ulubionych książek
    Zapisane w:
  15. 15
    CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes

    CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes od Anna Hackett, Patrick Tarpey, Andrea Licata, James J. Cox, Annabel Whibley, Jackie Boyle, Carolyn Rogers, John Grigg, M. W. Partington, Roger E. Stevenson, John Tolmie, John R.W. Yates, Gillian Turner, Meredith Wilson, P. Andrew Futreal, Mark Corbett, Marie Shaw, Jozef Gécz, F. Lucy Raymond, Michael R. Stratton, Charles E. Schwartz, Fatima Abidi

    Wydane 2009
    Dokumenty pełnotekstowe Dokumenty pełnotekstowe
    Artigo
    Dodaj do listy ulubionych książek
    Zapisane w:
  16. 16
    Bohring–Opitz (Oberklaid–Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis

    Bohring–Opitz (Oberklaid–Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis od Rob Hastings, Jan-Maarten Cobben, Gabriele Gillessen‐Kaesbach, Judith Goodship, Hanne Hove, Susanne Kjærgaard, Helena Kemp, Helen Kingston, Peter Lunt, Sahar Mansour, Ruth McGowan, Kay Metcalfe, Catherine Murdoch-Davis, Mary Katherine Ray, Marlène Rio, Sarah Smithson, John Tolmie, Peter D. Turnpenny, Bregje W.M. van Bon, Dagmar Wieczorek, Ruth Newbury-Ecob

    Wydane 2011
    Dokumenty pełnotekstowe Dokumenty pełnotekstowe
    Revisão
    Dodaj do listy ulubionych książek
    Zapisane w:
  17. 17
    Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model

    Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model od Andrea H. Németh, Alexandra Kwasniewska, Stefano Lise, Ricardo Parolin Schnekenberg, Esther B. E. Becker, Katarzyna D. Bera, Morag Shanks, Lorna Gregory, David Buck, M. Zameel Cader, Kevin Talbot, Rajith de Silva, Nicholas Fletcher, Rob Hastings, Sandeep Jayawant, Patrick J. Morrison, Paul Worth, A. Malcolm R. Taylor, John Tolmie, Mary O’Regan, Ruth A. Valentine, Emily Packham, Julie Evans, A Seller, Jiannis Ragoussis

    Wydane 2013
    Dokumenty pełnotekstowe Dokumenty pełnotekstowe
    Artigo
    Dodaj do listy ulubionych książek
    Zapisane w:
  18. 18
    Cerebroretinal microangiopathy with calcifications and cysts (CRMCC)

    Cerebroretinal microangiopathy with calcifications and cysts (CRMCC) od Tracy A. Briggs, Ghada M. H. Abdel‐Salam, Maryagnes R. Balicki, Peter Baxter, Enrico Bertini, Nick Bishop, B H Browne, David Chitayat, W.K. Chong, Maha M. Eid, William Halliday, Imelda Hughes, A. Klusmann‐Koy, Mary Kurian, Ken K. Nischal, Gillian Rice, John B.P. Stephenson, R. Surtees, J F Talbot, Nasrin Tehrani, John Tolmie, Carmel Toomes, Marjo S. van der Knaap, Yanick J. Crow

    Wydane 2007
    Dokumenty pełnotekstowe Dokumenty pełnotekstowe
    Artigo
    Dodaj do listy ulubionych książek
    Zapisane w:
  19. 19
    Mosaic structural variation in children with developmental disorders

    Mosaic structural variation in children with developmental disorders od Daniel A. King, Wendy D. Jones, Yanick J. Crow, Anna F. Dominiczak, N Foster, Tom R. Gaunt, Jade Harris, Stephen Hellens, Tessa Homfray, Josie Innes, Elizabeth A. Jones, Shelagh Joss, Abhijit Kulkarni, Sahar Mansour, Andrew D. Morris, Michael Parker, David J. Porteous, Hashem A. Shihab, Blair H. Smith, Katrina Tatton‐Brown, John Tolmie, Maciej Trzaskowski, Pradeep Vasudevan, Emma Wakeling, Michael Wright, Robert Plomin, Nicholas J. Timpson, Matthew E. Hurles

    Wydane 2015
    Dokumenty pełnotekstowe Dokumenty pełnotekstowe
    Artigo
    Dodaj do listy ulubionych książek
    Zapisane w:
  20. 20
    B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability

    B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability od Gunnar Houge, Dorien Haesen, Lisenka E.L.M. Vissers, Sarju Mehta, Michael Parker, Michael Wright, Julie Vogt, Shane McKee, John Tolmie, Nuno Cordeiro, Tjitske Kleefstra, Marjolein H. Willemsen, Margot R.F. Reijnders, Siren Berland, E. HAYMAN, Eli Lahat, Eva H. Brilstra, Koen L.I. van Gassen, Evelien Zonneveld‐Huijssoon, Charlotte I. de Bie, Alexander Hoischen, Evan E. Eichler, Rita Holdhus, Vidar M. Steen, Stein Ove Do̷skeland, Matthew E. Hurles, David Fitzpatrick, Veerle Janssens

    Wydane 2015
    Dokumenty pełnotekstowe
    Artigo
    Dodaj do listy ulubionych książek
    Zapisane w:

Narzędzie wyszukiwania: