Αποτελέσματα αναζήτησης - Alison Ross

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  1. 1
    The Politics of Disease Epidemics: a Comparative Analysis of the SARS, Zika, and Ebola Outbreaks

    The Politics of Disease Epidemics: a Comparative Analysis of the SARS, Zika, and Ebola Outbreaks από Lydia Kapiriri, Alison Ross

    Έκδοση 2018
    Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  2. 2
    A Prospective Controlled Trial of Azathioprine in Primary Biliary Cirrhosis

    A Prospective Controlled Trial of Azathioprine in Primary Biliary Cirrhosis από Jenny Heathcote, Alison Ross, Sheila Sherlock

    Έκδοση 1976
    Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  3. 3
    Avoidant/restrictive food intake disorder (ARFID) symptoms in gender diverse adults and their relation to autistic traits, ADHD traits, and sensory sensitivities

    Avoidant/restrictive food intake disorder (ARFID) symptoms in gender diverse adults and their relation to autistic traits, ADHD traits, and sensory sensitivities από Kai S. Thomas, Jennifer Keating, Alison Ross, Kate Cooper, Catherine R. G. Jones

    Έκδοση 2025
    Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  4. 4
    Genetic Interaction of BBS1 Mutations with Alleles at Other BBS Loci Can Result in Non-Mendelian Bardet-Biedl Syndrome

    Genetic Interaction of BBS1 Mutations with Alleles at Other BBS Loci Can Result in Non-Mendelian Bardet-Biedl Syndrome από Philip L. Beales, José L. Badano, Alison Ross, Stephen J. Ansley, Bethan E. Hoskins, Brigitta Kirsten, Charles A. Mein, Philippe Froguel, Peter Scambler, Richard A. Lewis, James R. Lupski, Nicholas Katsanis

    Έκδοση 2003
    Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  5. 5
    The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression

    The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression από Jun Chul Kim, José L. Badano, Sonja Sibold, Muneer A. Esmail, Josephine Hill, Bethan E. Hoskins, Carmen C. Leitch, Kerrie Venner, Stephen J. Ansley, Alison Ross, Michel R. Leroux, Nicholas Katsanis, Philip L. Beales

    Έκδοση 2004
    Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  6. 6
    BRD4 interacts with NIPBL and BRD4 is mutated in a Cornelia de Lange–like syndrome

    BRD4 interacts with NIPBL and BRD4 is mutated in a Cornelia de Lange–like syndrome από Gabrielle Olley, Morad Ansari, Hemant Bengani, Graeme R. Grimes, James Rhodes, Alex von Kriegsheim, Ana Blatnik, Fiona J. Stewart, Emma Wakeling, Nicola Carroll, Alison Ross, Soo‐Mi Park, Wendy A. Bickmore, Madapura M. Pradeepa, David Fitzpatrick

    Έκδοση 2018
    Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  7. 7
    Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome

    Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome από Yanli Fan, Muneer A. Esmail, Stephen J. Ansley, Oliver E. Blacque, Keith A. Boroevich, Alison Ross, Susan Moore, José L. Badano, Helen May‐Simera, Deanna S Compton, Jane S. Green, Richard A. Lewis, Mieke M. van Haelst, Patrick S. Parfrey, David L. Baillie, Philip L. Beales, Nicholas Katsanis, William S. Davidson, Michel R. Leroux

    Έκδοση 2004
    Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  8. 8
    Mutations in the pre-replication complex cause Meier-Gorlin syndrome

    Mutations in the pre-replication complex cause Meier-Gorlin syndrome από Louise S. Bicknell, Ernie M.H.F. Bongers, Andrea Leitch, Stephen Brown, Jeroen Schoots, Margaret E Harley, Salim Aftimos, Jumana Y. Al‐Aama, Michael B. Bober, Paul A. Brown, Hans van Bokhoven, John Dean, Alaa Edrees, Murray Feingold, Alan Fryer, Lies H. Hoefsloot, Nikolaus Kau, Nine Knoers, J. M. MacKenzie, John M. Opitz, Pierre Sarda, Alison Ross, I. Karen Temple, Annick Toutain, Carol A. Wise, Michael Wright, Andrew P. Jackson

    Έκδοση 2011
    Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  9. 9
    Gain-of-function human <i>UNC93B1</i> variants cause systemic lupus erythematosus and chilblain lupus

    Gain-of-function human <i>UNC93B1</i> variants cause systemic lupus erythematosus and chilblain lupus από C. David, Carlos A. Arango-Franco, Mihaly Badonyi, Julien Fouchet, Gillian Rice, Blaise Didry‐Barca, L. Maisonneuve, Luís Seabra, Robin Kechiche, Cécile Masson, Aurélie Cobat, Laurent Abel, Estelle Talouarn, Vivien Béziat, Caroline Deswarte, Katie Livingstone, C. Paul, G. R. Malik, Alison Ross, Jane Adam, Jo Walsh, Sathish Kumar, Damien Bonnet, Christine Bodemer, Brigitte Bader‐Meunier, Joseph A. Marsh, Jean‐Laurent Casanova, Yanick J. Crow, Bénédicte Manoury, Marie‐Louise Frémond, Jonathan Bohlen, Alice Lepelley

    Έκδοση 2024
    Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  10. 10
    Mutation Analysis and Embryonic Expression of the HLXB9 Currarino Syndrome Gene

    Mutation Analysis and Embryonic Expression of the HLXB9 Currarino Syndrome Gene από D.M. Hagan, Alison Ross, T Strachan, Sally Ann Lynch, Víctor L. Ruiz‐Pérez, Y.M. Wang, Peter Scambler, Emily Jane Custard, William Reardon, Syahzuwan Hassan, Maximilian Muenke, P. Nixon, Charalambos Papapetrou, R M Winter, Y. Edwards, K. Morrison, Margaret Barrow, M.P. Cordier-Alex, Patrícia Correia, Patricia Galvin‐Parton, Sharon P. Gaskill, K.J. Gaskin, S. Garcia-Minaur, Rani Gereige, Richard Hayward, Tessa Homfray, C McKeown, Victoria Murday, H Plauchu, Nora Shannon, Lewis Spitz, Susan Lindsay

    Έκδοση 2000
    Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  11. 11
    Primary brain calcification: an international study reporting novel variants and associated phenotypes

    Primary brain calcification: an international study reporting novel variants and associated phenotypes από Eliana Marisa Ramos, Miryam Carecchio, Roberta R. Lemos, Joana Ferreira, Andrea Legati, Renee Sears, Sandy Hsu, Celeste Panteghini, Luca Magistrelli, Ettore Salsano, Silvia Esposito, Franco Taroni, Anne‐Claire Richard, Christine Tranchant, Mathieu Anheim, Xavier Ayrignac, Cyril Goizet, Marie Vidailhet, David Maltête, David Wallon, Thierry Frébourg, Lylyan Fragoso Pimentel, Daniel H. Geschwind, Olivier Vanakker, Douglas Galasko, Brent L. Fogel, A. Micheil Innes, Alison Ross, William B. Dobyns, Diana Alcantara, Mark O’Driscoll, Didier Hannequin, Dominique Campion, João Ricardo Mendes de Oliveira, Barbara Garavaglia, Giovanni Coppola, Gaël Nicolas

    Έκδοση 2018
    Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  12. 12
    Meier–Gorlin syndrome genotype–phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis

    Meier–Gorlin syndrome genotype–phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis από Sonja A. de Munnik, Louise S. Bicknell, Salim Aftimos, Jumana Y. Al‐Aama, Yolande van Bever, Michael B. Bober, Jill Clayton‐Smith, Alaa Edrees, Murray Feingold, Alan Fryer, Johanna M. van Hagen, Raoul C. M. Hennekam, M. C. E. Jansweijer, Diana Johnson, Sarina G. Kant, John M. Opitz, A. Radha Ramadevi, William Reardon, Alison Ross, Pierre Sarda, C. T. R. M. Schrander‐Stumpel, Jeroen Schoots, I. Karen Temple, Paulien A. Terhal, Annick Toutain, Carol A. Wise, Michael Wright, David Skidmore, Mark E. Samuels, Lies H. Hoefsloot, Nine Knoers, Han G. Brunner, Andrew P. Jackson, Ernie M.H.F. Bongers

    Έκδοση 2012
    Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  13. 13
    Meier–Gorlin syndrome: Growth and secondary sexual development of a microcephalic primordial dwarfism disorder

    Meier–Gorlin syndrome: Growth and secondary sexual development of a microcephalic primordial dwarfism disorder από Sonja A. de Munnik, Barto J. Otten, Jeroen Schoots, Louise S. Bicknell, Salim Aftimos, Jumana Y. Al‐Aama, Yolande van Bever, Michael B. Bober, George F. Borm, Jill Clayton‐Smith, Cheri Deal, Alaa Edrees, Murray Feingold, Alan Fryer, Johanna M. van Hagen, Raoul C. M. Hennekam, M. C. E. Jansweijer, Diana Johnson, Sarina G. Kant, John M. Opitz, A. Radha Ramadevi, William Reardon, Alison Ross, Pierre Sarda, C. T. R. M. Schrander‐Stumpel, A. Erik Sluiter, I. Karen Temple, Paulien A. Terhal, Annick Toutain, Carol A. Wise, Michael Wright, David Skidmore, Mark E. Samuels, Lies H. Hoefsloot, Nine Knoers, Han G. Brunner, Andrew P. Jackson, Ernie M.H.F. Bongers

    Έκδοση 2012
    Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  14. 14
    Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism

    Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism από Morad Ansari, Gemma Poke, Quentin RV. Ferry, Kathleen A. Williamson, Roland Christopher Lochore Aldridge, Alison Meynert, Hemant Bengani, Cheng Yee Chan, Hülya Kayserili, Şahin Avcı, Raoul C. M. Hennekam, Anne Katrin Lampe, E. Redeker, Tessa Homfray, Alison Ross, Marie Falkenberg Smeland, Sahar Mansour, Michael Parker, Jacqueline Cook, Miranda Splitt, Richard B. Fisher, Alan Fryer, Alex Magee, Andrew O.M. Wilkie, Angela Barnicoat, Angela F. Brady, Nicola Cooper, Catherine Mercer, Charu Deshpande, Christopher Bennett, Daniela T. Pilz, Deborah Ruddy, Deirdre Cilliers, Diana Johnson, Dragana Josifova, Elisabeth Rosser, Elizabeth M. Thompson, Emma Wakeling, Esther Kinning, Fiona Stewart, Frances Flinter, Katta M. Girisha, Helen Cox, Helen V. Firth, Helen Kingston, Jamie S Wee, Jane A. Hurst, Jill Clayton‐Smith, John Tolmie, Julie Vogt, Katrina Tatton‐Brown, Kate Chandler, Katrina Prescott, Louise C. Wilson, Mahdiyeh Behnam, Meriel McEntagart, Rosemarie Davidson, Sally Ann Lynch, Sanjay M. Sisodiya, Sarju Mehta, Shane McKee, Shehla Mohammed, Simon Holden, Soo-Mi Park, Susan Holder, Victoria Harrison, Vivienne McConnell, Wayne Lam, Andrew Green, Dian Donnai, Maria Bitner‐Glindzicz, Deirdre E. Donnelly, Christoffer Nellåker, Martin S. Taylor, David Fitzpatrick

    Έκδοση 2014
    Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  15. 15
    Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD

    Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD από Andrea Cortese, Maike F. Dohrn, Riccardo Currò, Sara Negri, Petra Laššuthová, Chiara Pisciotta, Stefano Tozza, Abdullah Al‐Ajmi, Changyoung Feng, Pedro José Tomaselli, Gorka Fernández‐Eulate, S. Haddad, Matilde Laurà, Alexander M. Rossor, Elisa Vegezzi, Stefano Facchini, James N. Sleigh, Adriana Rebelo, Danique Beijer, Jacquelyn Raposo, Mario Saporta, Barbora Lauerová, Helena F. Pernice, Pascal Achenbach, Ulrike Schöne, Tayir Alon, Marcus Deschauer, Isabell Cordts, Carolin D. Obermaier, Natalie Winter, Peter D. Creigh, Janet E. Sowden, Tyler Rehbein, Stefania Magri, Alessandro Bertini, Paola Saveri, Paolo Ripellino, Jingyu Huang, Aleksandra Nadaj-Pakleza, Alison Ross, James Holt, Kathryn M. Brennan, Rivka Sukenik‐Halevy, Varoona Bizaoui, Yeşim Parman, Esra Battaloğlu, Arman Çakar, Hadil Alrohaif, Simon Hammans, Kishore R. Kumar, Marina Kennerson, Hülya Kayserili, Defne A. Amado, Katrin Hahn, Paola Valentino, Francesca Cavalcanti, Carlo Gaetano, Franco Taroni, Geir J. Braathen, Henry Houlden, Tanya Stojkovic, Stojan Peric, Alessandra Bolino, Stefano C. Previtali, Yi‐Chung Lee, A. Nazlı Başak, Sherifa A. Hamed, Ricardo Rojas‐García, Tanya Stojkovic, Wilson Marques, Teresa Sevilla, Beate Schlotter‐Weigel, Fiore Manganelli, Ruxu Zhang, David N. Herrmann, Steven S. Scherer, Pavel Seeman, Davide Pareyson, Mary M. Reilly, Michael E. Shy, Stephan Züchner

    Έκδοση 2025
    Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  16. 16
    Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

    Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling από Lot Snijders Blok, Erik Madsen, Jane Juusola, Christian Gilissen, Diana Baralle, Margot R.F. Reijnders, Hanka Venselaar, Céline Helsmoortel, Megan T. Cho, Alexander Hoischen, Lisenka E.L.M. Vissers, Tom S. Koemans, W.M. Wissink-Lindhout, Evan E. Eichler, Corrado Romano, Hilde Van Esch, Connie T. R. M. Stumpel, Maaike Vreeburg, Eric Smeets, Karin Oberndorff, Bregje W.M. van Bon, Marie Shaw, Jozef Gécz, Eric Haan, Melanie Bienek, Corinna Jensen, Bart Loeys, Anke Van Dijck, A. Micheil Innes, Hilary Racher, Sascha Vermeer, Nataliya Di Donato, Andreas Rump, Katrina Tatton‐Brown, Michael Parker, Alex Henderson, Sally Ann Lynch, Alan Fryer, Alison Ross, Pradeep Vasudevan, Usha Kini, Ruth Newbury‐Ecob, Kate Chandler, Alison Male, Sybe Dijkstra, Jolanda Schieving, Jacques C. Giltay, Koen L.I. van Gassen, Janneke Schuurs-Hoeijmakers, Perciliz L. Tan, Igor Pediaditakis, Stefan A. Haas, Kyle Retterer, Patrick Reed, Kristin G. Monaghan, Eden Haverfield, Marvin R. Natowicz, Angela Myers, Michael C. Kruer, Quinn Stein, Kevin A. Strauss, Karlla W. Brigatti, Katherine E. Keating, Barbara K. Burton, Katherine H. Kim, Joel Charrow, Jennifer Norman, Audrey Foster‐Barber, Antonie D. Kline, Amy Kimball, Elaine H. Zackai, Margaret Harr, Joyce E. Fox, Julie McLaughlin, Kristin Lindstrom, Katrina Haude, Kees van Roozendaal, Han G. Brunner, Wendy K. Chung, R. Frank Kooy, Rolph Pfundt, Vera M. Kalscheuer, Sarju Mehta, Nicholas Katsanis, Tjitske Kleefstra

    Έκδοση 2015
    Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  17. 17
    Not all <i>SCN1A</i> epileptic encephalopathies are Dravet syndrome

    Not all <i>SCN1A</i> epileptic encephalopathies are Dravet syndrome από 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

    Έκδοση 2017
    Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου
    Artigo
    Προσθήκη στα αγαπημένα
    Αποθηκεύτηκε σε:
  18. 18
    Evidence for 28 genetic disorders discovered by combining healthcare and research data

    Evidence for 28 genetic disorders discovered by combining healthcare and research data από Joanna Kaplanis, Kaitlin E. Samocha, Laurens Wiel, Zhancheng Zhang, Kevin J. Arvai, Ruth Y. Eberhardt, Giuseppe Gallone, Stefan H. Lelieveld, Hilary C. Martin, Jeremy F. McRae, Patrick Short, Rebecca Torene, Elke de Boer, Petr Danecek, Eugene J. Gardner, Ni Huang, Jenny Lord, Iñigo Martincorena, Rolph Pfundt, Margot R.F. Reijnders, Alison Yeung, Helger G. Yntema, Sílvia Borràs, Caroline Clark, John Dean, Zosia Miedzybrodzka, Alison Ross, Stephen Tennant, Tabib Dabir, Deirdre Donnelly, Mervyn Humphreys, Alex Magee, Vivienne McConnell, Shane McKee, Susan McNerlan, Patrick J. Morrison, Gillian Rea, Fiona Stewart, Trevor Cole, Nicola Cooper, Lisa Cooper‐Charles, Helen Cox, Lily Islam, Joanna Jarvis, Rebecca Keelagher, Derek Lim, Dominic McMullan, Jenny Morton, Swati Naik, Mary O’Driscoll, Kai‐Ren Ong, Deborah Osio, Nicola Ragge, Sarah Turton, Julie Vogt, Denise Williams, Simon Bodek, Alan Donaldson, Alison Hills, Karen Low, Ruth Newbury‐Ecob, Andrew Norman, Eileen Roberts, Ingrid Scurr, Sarah Smithson, Madeleine Tooley, Stephen Abbs, Ruth Armstrong, Carolyn Dunn, Simon Holden, Soo‐Mi Park, Joan Paterson, Lucy Raymond, Evan Reid, Richard Sandford, Ingrid Simonic, Marc Tischkowitz, Geoff Woods, Lisa Bradley, Joanne Comerford, Andrew Green, Sally Ann Lynch, Shirley McQuaid, Brendan Mullaney, Jonathan Berg, David Goudie, Eleni Mavrak, Joanne McLean, Catherine McWilliam, Eleanor Reavey, Tara Azam, Elaine Cleary, Andrew P. Jackson, Wayne Lam, Anne Lampe, David Moore, Mary Porteous, Emma L. Baple, Júlia Baptista, Carole Brewer

    Έκδοση 2020
    Λήψη πλήρους κειμένου
    Artigo
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    Αποθηκεύτηκε σε:
  19. 19
    The contribution of X-linked coding variation to severe developmental disorders

    The contribution of X-linked coding variation to severe developmental disorders από Hilary C. Martin, Eugene J. Gardner, Kaitlin E. Samocha, Joanna Kaplanis, Nadia Akawi, Alejandro Sifrim, Ruth Y. Eberhardt, Ana Lisa Taylor Tavares, Matthew D. C. Neville, Mari Niemi, Giuseppe Gallone, Jeremy F. McRae, Sílvia Borràs, Caroline Clark, John Dean, Zosia Miedzybrodzka, Alison Ross, Stephen Tennant, Tabib Dabir, Deirdre Donnelly, Mervyn Humphreys, Alex Magee, Vivienne McConnell, Shane McKee, Susan McNerlan, Patrick J. Morrison, Gillian Rea, Fiona Stewart, Trevor Cole, Nicola Cooper, Lisa Cooper‐Charles, Helen Cox, Lily Islam, Joanna Jarvis, Rebecca Keelagher, Derek Lim, Dominic McMullan, Jenny Morton, Swati Naik, Mary O’Driscoll, Kai‐Ren Ong, Deborah Osio, Nicola Ragge, Sarah Turton, Julie Vogt, Denise Williams, Simon Bodek, Alan Donaldson, Alison Hills, Karen Low, Ruth Newbury‐Ecob, Andrew Norman, Eileen Roberts, Ingrid Scurr, Sarah Smithson, Madeleine Tooley, Stephen Abbs, Ruth Armstrong, Carolyn Dunn, Simon Holden, Soo‐Mi Park, Joan Paterson, Lucy Raymond, Evan Reid, Richard Sandford, Ingrid Simonic, Marc Tischkowitz, Geoff Woods, Lisa Bradley, Joanne Comerford, Andrew Green, Sally Ann Lynch, Shirley McQuaid, Brendan Mullaney, Jonathan Berg, David Goudie, Eleni Mavrak, Joanne McLean, Catherine McWilliam, Eleanor Reavey, Tara Azam, Elaine Cleary, Andrew P. Jackson, Wayne Lam, Anne Lampe, David Moore, Mary Porteous, Emma L. Baple, Júlia Baptista, Carole Brewer, Bruce Castle, Emma Kivuva, Martina Owens, Julia Rankin, Charles Shaw‐Smith, Claire Turner, Peter D. Turnpenny, Carolyn Tysoe, Therese Bradley, Rosemarie Davidson

    Έκδοση 2021
    Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου
    Artigo
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    Αποθηκεύτηκε σε:
  20. 20
    Histone H3.3 beyond cancer: Germline mutations in <i>Histone 3 Family 3A and 3B</i> cause a previously unidentified neurodegenerative disorder in 46 patients

    Histone H3.3 beyond cancer: Germline mutations in <i>Histone 3 Family 3A and 3B</i> cause a previously unidentified neurodegenerative disorder in 46 patients από Laura Bryant, Dong Li, Samuel G. Cox, Dylan M. Marchione, Evan F. Joiner, Khadija Wilson, Kevin A. Janssen, Pearl Lee, Michael March, Divya Nair, Elliott H. Sherr, Brieana Fregeau, Klaas J. Wierenga, Alexandrea Wadley, Grazia M.S. Mancini, Nina Powell‐Hamilton, Jiddeke van de Kamp, Theresa A. Grebe, John Dean, Alison Ross, Heather P. Crawford, Zöe Powis, Megan T. Cho, Marcia Willing, Linda Manwaring, Rachel Schot, Caroline Nava, Alexandra Afenjar, Davor Lessel, Matias Wagner, Thomas Klopstock, Juliane Winkelmann, Claudia B. Catarino, Kyle Retterer, Jane L. Schuette, Jeffrey W. Innis, Amy Pizzino, Sabine Lüttgen, Jonas Denecke, Tim M. Strom, Kristin G. Monaghan, Zuo‐Fei Yuan, Holly Dubbs, Renee Bend, Jennifer A. Lee, Michael J. Lyons, Julia Hoefele, Roman Günthner, Heiko Reutter, Boris Keren, Kelly Radtke, Omar Sherbini, Cameron Mrokse, Katherine L. Helbig, Sylvie Odent, Benjamin Cogné, Sandra Mercier, Stéphane Bézieau, Thomas Besnard, Sébastien Küry, Richard Redon, Karit Reinson, Monica H. Wojcik, Katrin Õunap, Pilvi Ilves, A. Micheil Innes, Kristin D. Kernohan, Gregory Costain, M. Stephen Meyn, David Chitayat, Elaine H. Zackai, Anna Lehman, Hilary Kitson, Martin G. Martin, Julián A. Martínez-Agosto, Stan F. Nelson, Christina G.S. Palmer, Jeanette C. Papp, Neil H. Parker, Janet S. Sinsheimer, Éric Vilain, Jijun Wan, Amanda J. Yoon, Allison Zheng, Elise Brimble, Giovanni Battista Ferrero, Francesca Clementina Radio, Diana Carli, Sabina Barresi, Alfredo Brusco, Marco Tartaglia, Jennifer Muncy Thomas, Luis A. Umaña, Marjan M. Weiss, Garrett Gotway, Kyra E. Stuurman, Michelle L. Thompson, Kirsty McWalter, Constance T. R. M. Stumpel, Servi J.C. Stevens

    Έκδοση 2020
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    Artigo
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