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ORAI1 Mutations with Distinct Channel Gating Defects in Tubular Aggregate MyopathyBöhm, Johann ; Bulla, Monica ; Urquhart, Jill E. ; Malfatti, Edoardo ; Williams, Simon G. ; O'Sullivan, James ; Szlauer, Anastazja ; Koch, Catherine ; Baranello, Giovanni ; Mora, Marina ; Ripolone, Michela ; Violano, Raffaella ; Moggio, Maurizio ; Kingston, Helen ; Dawson, Timothy ; DeGoede, Christian G. ; Nixon, John ; Boland, Anne ; Deleuze, Jean‐François ; Romero, Norma ; Newman, William G. ; Demaurex, Nicolas ; Laporte, JocelynHuman mutation, 2017-04, Vol.38 (4), p.426-438 [Periódico revisado por pares]United States: Hindawi LimitedTexto completo disponível |
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Material Type: Artigo
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Protein Kinase Cδ Deficiency Causes Mendelian Systemic Lupus Erythematosus With B Cell‐Defective Apoptosis and HyperproliferationBelot, Alexandre ; Kasher, Paul R. ; Trotter, Eleanor W. ; Foray, Anne‐Perrine ; Debaud, Anne‐Laure ; Rice, Gillian I. ; Szynkiewicz, Marcin ; Zabot, Marie‐Therese ; Rouvet, Isabelle ; Bhaskar, Sanjeev S. ; Daly, Sarah B. ; Dickerson, Jonathan E. ; Mayer, Josephine ; O'Sullivan, James ; Juillard, Laurent ; Urquhart, Jill E. ; Fawdar, Shameem ; Marusiak, Anna A. ; Stephenson, Natalie ; Waszkowycz, Bohdan ; Beresford, Michael W. ; Biesecker, Leslie G. ; Black, Graeme C. M. ; René, Céline ; Eliaou, Jean‐François ; Fabien, Nicole ; Ranchin, Bruno ; Cochat, Pierre ; Gaffney, Patrick M. ; Rozenberg, Flore ; Lebon, Pierre ; Malcus, Christophe ; Crow, Yanick J. ; Brognard, John ; Bonnefoy, NathalieArthritis & rheumatology (Hoboken, N.J.), 2013-08, Vol.65 (8), p.2161-2171 [Periódico revisado por pares]United States: WileyTexto completo disponível |
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Material Type: Artigo
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The Contribution of Whole Gene Deletions and Large Rearrangements to the Mutation Spectrum in Inherited Tumor Predisposing SyndromesSmith, Miriam J. ; Urquhart, Jill E. ; Harkness, Elaine F. ; Miles, Emma K. ; Bowers, Naomi L. ; Byers, Helen J. ; Bulman, Michael ; Gokhale, Carolyn ; Wallace, Andrew J. ; Newman, William G. ; Evans, D. GarethHuman mutation, 2016-03, Vol.37 (3), p.250-256 [Periódico revisado por pares]United States: Blackwell Publishing LtdTexto completo disponível |
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Material Type: Artigo
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22q11.2 duplications in a UK cohort with bladder exstrophy–epispadias complexBeaman, Glenda M. ; Woolf, Adrian S. ; Cervellione, Raimondo M. ; Keene, David ; Mushtaq, Imran ; Urquhart, Jill E. ; Stuart, Helen M. ; Newman, William G.American journal of medical genetics. Part A, 2019-03, Vol.179 (3), p.404-409 [Periódico revisado por pares]Hoboken, USA: John Wiley & Sons, IncTexto completo disponível |
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Material Type: Artigo
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Exploring the genetic basis of 3MC syndrome: Findings in 12 further familiesUrquhart, Jill ; Roberts, Rebecca ; de Silva, Deepthi ; Shalev, Stavit ; Chervinsky, Elena ; Nampoothiri, Sheela ; Sznajer, Yves ; Revencu, Nicole ; Gunasekera, Romesh ; Suri, Mohnish ; Ellingford, Jamie ; Williams, Simon ; Bhaskar, Sanjeev ; Clayton-Smith, JillAmerican journal of medical genetics. Part A, 2016-05, Vol.170A (5), p.1216-1224 [Periódico revisado por pares]United States: Blackwell Publishing LtdTexto completo disponível |
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Material Type: Artigo
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A homozygous missense variant in CHRM3 associated with familial urinary bladder diseaseBeaman, Glenda M. ; Galatà, Gabriella ; Teik, Keng W. ; Urquhart, Jill E. ; Aishah, Ali ; O'Sullivan, James ; Bhaskar, Sanjeev S. ; Wood, Katherine A. ; Thomas, Huw B. ; O'Keefe, Raymond T. ; Woolf, Adrian S. ; Stuart, Helen M. ; Newman, William G.Clinical genetics, 2019-12, Vol.96 (6), p.515-520 [Periódico revisado por pares]Oxford, UK: Blackwell Publishing LtdTexto completo disponível |
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Material Type: Artigo
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Homozygous mutation in PTRH2 gene causes progressive sensorineural deafness and peripheral neuropathySharkia, Rajech ; Shalev, Stavit A. ; Zalan, Abdelnaser ; Marom‐David, Milit ; Watemberg, Nathan ; Urquhart, Jill E. ; Daly, Sarah B. ; Bhaskar, Sanjeev S. ; Williams, Simon G. ; Newman, William G. ; Spiegel, Ronen ; Azem, Abdussalam ; Elpeleg, Orly ; Mahajnah, MuhammadAmerican journal of medical genetics. Part A, 2017-04, Vol.173 (4), p.1051-1055 [Periódico revisado por pares]United States: Wiley Subscription Services, IncTexto completo disponível |
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Material Type: Artigo
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Protein Kinase C[delta] Deficiency Causes Mendelian Systemic Lupus Erythematosus With B Cell-Defective Apoptosis and HyperproliferationBelot, Alexandre ; Kasher, Paul R ; Trotter, Eleanor W ; ay, Anne-Perrine ; Debaud, Anne-Laure ; Rice, Gillian I ; Szynkiewicz, Marcin ; Zabot, Marie-Therese ; Rouvet, Isabelle ; Bhaskar, Sanjeev S ; Daly, Sarah B ; Dickerson, Jonathan E ; Mayer, Josephine ; O'Sullivan, James ; Juillard, Laurent ; Urquhart, Jill E ; Fawdar, Shameem ; Marusiak, Anna A ; Stephenson, Natalie ; Waszkowycz, Bohdan ; W. Beresford, Michael ; Biesecker, Leslie G ; C. M. Black, Graeme ; René, Céline ; Eliaou, Jean-François ; Fabien, Nicole ; Ranchin, Bruno ; Cochat, Pierre ; Gaffney, Patrick M ; Rozenberg, Flore ; Lebon, Pierre ; Malcus, Christophe ; Crow, Yanick J ; Brognard, John ; Bonnefoy, NathalieArthritis and rheumatism, 2013-08, Vol.65 (8), p.2161Atlanta: Wiley Subscription Services, IncTexto completo disponível |
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Material Type: Artigo
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The Contribution of Whole Gene Deletions and Large Rearrangements to the Mutation Spectrum in Inherited Tumor Predisposing Syndromes: HUMAN MUTATIONSmith, Miriam J. ; Urquhart, Jill E. ; Harkness, Elaine F. ; Miles, Emma K. ; Bowers, Naomi L. ; Byers, Helen J. ; Bulman, Michael ; Gokhale, Carolyn ; Wallace, Andrew J. ; Newman, William G. ; Evans, D. GarethHuman mutation, 2016-03, Vol.37 (3), p.250-256 [Periódico revisado por pares]Texto completo disponível |
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Material Type: Artigo
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ORAI1 Mutations with Distinct Channel Gating Defects in Tubular Aggregate MyopathyBöhm, Johann ; Bulla, Monica ; Urquhart, Jill E ; Malfatti, Edoardo ; Williams, Simon ; O'Sullivan, James ; Szlauer, Anastazja ; Koch, Catherine ; Baranello, Giovanni ; Mora, Marina ; Ripolone, Michela ; Violano, Raffaella ; Moggio, Maurizio ; Kingston, Helen ; Dawson, Timothy ; DeGoede, Christian G ; Nixon, John ; Boland, Anne ; Deleuze, Jean-François ; Romero, Norma ; Newman, William G ; Demaurex, Nicolas ; Laporte, Jocelyn2017-04Texto completo disponível |