תוצאות חיפוש - Debbie Shears

  • Showing 1 - 6 results of 6
Refine Results
  1. 1
    The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature

    The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature מאת Juliette Piard, Lara Hawkes, Mathieu Milh, Laurent Villard, Renato Borgatti, Romina Romaniello, Mélanie Fradin, Yline Capri, Delphine Héron, Marie‐Christine Nouguès, Caroline Nava, Oana Tarta Arsene, Debbie Shears, John Taylor, Alistair T. Pagnamenta, Jenny C. Taylor, Yoshimi Sogawa, Diana Johnson, Helen V. Firth, Pradeep Vasudevan, Gabriela Jones, Marie-Ange Nguyen-Morel, Tiffany Busa, Agathe Roubertie, Myrthe van den Born, Elise Brischoux‐Boucher, M. Kœnig, Cyril Mignot, Usha Kini, Christophe Philippe

    יצא לאור 2018
    קבל טקסט מלא קבל טקסט מלא
    Revisão
    הוספה למועדפים
    שמור ב:
  2. 2
    Weaver syndrome and <i>EZH2</i> mutations: Clarifying the clinical phenotype

    Weaver syndrome and <i>EZH2</i> mutations: Clarifying the clinical phenotype מאת Katrina Tatton‐Brown, Anne R. Murray, Sandra Hanks, Jenny Douglas, Ruth Armstrong, Siddharth Banka, Lynne M. Bird, Carol L. Clericuzio, Valérie Cormier‐Daire, Tom Cushing, Frances Flinter, Marie‐Line Jacquemont, Shelagh Joss, Esther Kinning, Sally Ann Lynch, Alex Magee, Vivienne McConnell, Ana Medeira, Keiichi Ozono, Michael A. Patton, Julia Rankin, Debbie Shears, Marleen Simon, Miranda Splitt, Volker Strenger, Kyra E. Stuurman, Clare Taylor, Hannah Titheradge, Lionel Van Maldergem, I. Karen Temple, Trevor Cole, Sheila Seal, Nazneen Rahman

    יצא לאור 2013
    קבל טקסט מלא קבל טקסט מלא
    Artigo
    הוספה למועדפים
    שמור ב:
  3. 3
    Hypomorphic Temperature-Sensitive Alleles of NSDHL Cause CK Syndrome

    Hypomorphic Temperature-Sensitive Alleles of NSDHL Cause CK Syndrome מאת Keith W. McLarren, Tesa Severson, Christèle du Souich, David W. Stockton, Lisa E. Kratz, David Cunningham, Glenda Hendson, Ryan D. Morin, Diane Wu, Jessica E. Paul, Jianghong An, Tanya N. Nelson, Athena Chou, Andrea E. DeBarber, Louise S. Merkens, Jacques L. Michaud, Paula J. Waters, Jingyi Yin, Barbara McGillivray, Michelle Demos, Guy A. Rouleau, Karl‐Heinz Grzeschik, Raffaella Smith, Patrick Tarpey, Debbie Shears, Charles E. Schwartz, Jozef Gécz, Michael R. Stratton, Laura Arbour, Jane Hurlburt, Margot I. Van Allen, Gail E. Herman, Yongjun Zhao, Richard Moore, Richard I. Kelley, Steven J.M. Jones, Robert D. Steiner, F. Lucy Raymond, Marco A. Marra, Cornelius F. Boerkoel

    יצא לאור 2010
    קבל טקסט מלא
    Artigo
    הוספה למועדפים
    שמור ב:
  4. 4
    Detailed Analysis of <scp><i>ITPR1</i></scp> Missense Variants Guides Diagnostics and Therapeutic Design

    Detailed Analysis of <scp><i>ITPR1</i></scp> Missense Variants Guides Diagnostics and Therapeutic Design מאת Jussi‐Pekka Tolonen, Ricardo Parolin Schnekenberg, Simon J. McGowan, David Sims, Meriel McEntagart, Frances Elmslie, Debbie Shears, Helen Stewart, George K. Tofaris, Tabib Dabir, Patrick J. Morrison, Diana Johnson, Marios Hadjivassiliou, Sian Ellard, Charles Shaw‐Smith, Anna Znaczko, Abhijit Dixit, Mohnish Suri, Ajoy Sarkar, Rachel Harrison, Gabriela Jones, Henry Houlden, G Ceravolo, Joanna Jarvis, Jonathan Williams, Morag Shanks, Penny Clouston, Julia Rankin, Lubov Blumkin, Tally Lerman‐Sagie, Penina Ponger, Salmo Raskin, Katariina Granath, Johanna Uusimaa, Hector Conti, Emma McCann, Shelagh Joss, Alexander J. M. Blakes, Kay Metcalfe, Helen Kingston, M. Bertoli, Rachel Kneen, Sally Ann Lynch, Inmaculada Martínez Albaladejo, Austen Peter Moore, Wendy D. Jones, Esther B. E. Becker, Andrea H. Németh

    יצא לאור 2023
    קבל טקסט מלא קבל טקסט מלא
    Artigo
    הוספה למועדפים
    שמור ב:
  5. 5
    Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients

    Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients מאת Gijs W.E. Santen, Emmelien Aten, Anneke T. Vulto‐van Silfhout, Caroline Pottinger, Bregje W.M. van Bon, Ivonne J.H.M. van Minderhout, Ronelle Snowdowne, Christian A.C. van der Lans, Merel W. Boogaard, Margot M. Linssen, Linda Vijfhuizen, Michiel J.R. van der Wielen, M.J. Ellen Vollebregt, Martijn H. Breuning, Marjolein Kriek, Arie van Haeringen, Johan T. den Dunnen, Alexander Hoischen, Jill Clayton‐Smith, Bert B.A. de Vries, Raoul C. M. Hennekam, Martine J. van Belzen, Mariam Almureikhi, Anwar Baban, Mafalda Barbosa, Tawfeg Ben‐Omran, Katherine Berry, Stefania Bigoni, Odile Boute, Louise Brueton, Ineke van der Burgt, Natalie Canham, Kate Chandler, Krystyńa Chrzańowska, Amanda Collins, Teresa De Toni, John Dean, Nicolette S. den Hollander, Leigh Anne Flore, Alan Fryer, Alice Gardham, John M. Graham, Victoria Harrison, Denise Horn, Marjolijn C.J. Jongmans, Dragana Josifova, Sarina G. Kant, Seema Kapoor, Helen Kingston, Usha Kini, Tjitske Kleefstra, Małgorzata Krajewska‐Walasek, Nancy Kramer, Saskia M. Maas, Patrı́cia Maciel, Grazia M.S. Mancini, Isabelle Maystadt, Shane McKee, Jeff M. Milunsky, Sheela Nampoothiri, Ruth Newbury‐Ecob, Sarah M. Nikkel, Michael Parker, Luis A. Pérez‐Jurado, Stephen P. Robertson, Caroline Rooryck, Debbie Shears, Margherita Silengo, Ankur Singh, Robert Śmigiel, Gabriela Soares, Miranda Splitt, Helen Stewart, Elizabeth Sweeney, May Tassabehji, Beyhan Tüysüz, Albertien M. van Eerde, Catherine Vincent‐Delorme, Louise C. Wilson, Gözde Yeşil

    יצא לאור 2013
    קבל טקסט מלא
    Artigo
    הוספה למועדפים
    שמור ב:
  6. 6
    Not all <i>SCN1A</i> epileptic encephalopathies are Dravet syndrome

    Not all <i>SCN1A</i> epileptic encephalopathies are Dravet syndrome מאת Lynette G. Sadleir, Emily Mountier, Deepak Gill, Suzanne L. Davis, Charuta Joshi, Catherine DeVile, Manju A. Kurian, Simone Mandelstam, Elaine Wirrell, Katherine Nickels, Hema Murali, Gemma L. Carvill, Candace T. Myers, Heather C. Mefford, Ingrid E. Scheffer, A. Paul Bevan, Abhijit Dixit, Abigail Pridham, Adrian R. Tivey, Ajoy Sarkar, Alan Donaldson, Alan Fryer, Alejandro Sifrim, Alex Henderson, Alex Magee, Alexis E. Duncan, Alison Kraus, Alison Male, Alison Ross, Amanda Collins, Anand Saggar, Andrea Coates, Andrea H. Németh, Andrew E. Fry, Andrew Green, A. Jackson, Andrew Norman, Angela Barnicoat, Angela Brady, Angela Douglas, Angus Clarke, Angus Dobbie, Ann Selby, Anna Middleton, Anne Lampe, A Seller, Annie Procter, Karenza Evans, Anthony Vandersteen, Astrid Weber, Audrey Smith, Audrey Torokwa, Beckie Kaemba, Becky Treacy, Beiyuan Fu, Ben Hutton, Birgitta Bernhard, Bronwyn Kerr, Bruce Castle, Carina Donnelly, Carol Gardiner, Clare L. Scott, Carole Brewer, Caroline F. Wright, Caroline Langman, Caroline Mackie Ogilvie, Caroline Pottinger, Carolyn Tysoe, Cat Taylor, Catherine McWilliam, Charles Shaw‐Smith, Charu Deshpande, Cheryl Longman, Cheryl Sequeira, Chirag Patel, Chris Bennett, Chris Nellåker, Christopher Wragg, Claire Kirk, Claire Turner, Daniel A. King, Daniel M. Barrett, Daniel Perrett, Daniela T. Pilz, Danielle Walker, David Baty, David Bohanna, David Bourn, David Goudie, David J. Bunyan, David Jones, David Moore, David Fitzpatrick, David Fitzpatrick, Debbie Rice, Debbie Shears, Deirdre Cilliers, Deirdre Donnelly, Denise Williams, Derek Lim

    יצא לאור 2017
    קבל טקסט מלא קבל טקסט מלא
    Artigo
    הוספה למועדפים
    שמור ב:

כלי חיפוש: