Výsledky vyhledávání - Meena Balasubramanian

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  1. 1
    Intronic ITGA3 Mutation Impacts Splicing Regulation and Causes Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis Bullosa

    Intronic ITGA3 Mutation Impacts Splicing Regulation and Causes Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis Bullosa Autor Yinghong He, Meena Balasubramanian, Nigel Humphreys, Catherine Waruiru, Martin Brauner, Juergen Kohlhase, Ruth O’Reilly, Cristina Has

    Vydáno 2016
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  2. 2
    De novo mutations in <i>HNRNPU</i> result in a neurodevelopmental syndrome

    De novo mutations in <i>HNRNPU</i> result in a neurodevelopmental syndrome Autor T. Michael Yates, Pradeep Vasudevan, Kate Chandler, Deirdre E. Donnelly, Zornitza Stark, Simon Sadedin, Josh Willoughby, Meena Balasubramanian

    Vydáno 2017
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  3. 3
    Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with<i>de novo</i>, heterozygous, loss-of-function mutations in<i>ASXL3</i>and review of published literature

    Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with<i>de novo</i>, heterozygous, loss-of-function mutations in<i>ASXL3</i>and review of publishe... Autor Meena Balasubramanian, Josh Willoughby, Andrew E. Fry, Astrid Weber, Helen V. Firth, Charu Deshpande, Jonathan Berg, Kate Chandler, Kay Metcalfe, Wayne Lam, Daniela T. Pilz, Susan Tomkins

    Vydáno 2017
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  4. 4
    Expanding the Phenotypic Spectrum of <scp>HNRNPU</scp>‐Related Disorder, Documenting the First Familial Presentation and Comprehensive Review

    Expanding the Phenotypic Spectrum of <scp>HNRNPU</scp>‐Related Disorder, Documenting the First Familial Presentation and Comprehensive Review Autor Ailie Hodgson, L. Baxandall, D. Aiyedun, Andrew Li, Ping Yee Billie Au, Jennifer Bain, Madelyn A. Gillentine, Himanshu Goel, Antonie D. Kline, Christopher Ricupero, Rocío Sánchez‐Carpintero, Elizabeth P. Seward, Richard Sidlow, Stuart A. Wilson, Meena Balasubramanian

    Vydáno 2025
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  5. 5
    Case series: 2q33.1 microdeletion syndrome--further delineation of the phenotype

    Case series: 2q33.1 microdeletion syndrome--further delineation of the phenotype Autor Meena Balasubramanian, Kath Smith, Lina Basel‐Vanagaite, Murray Feingold, Pamela Brock, Gordon C. Gowans, Pradeep Vasudevan, Lara Cresswell, Emma‐Jane Taylor, Civonnia Harris, Neil Friedman, Rocio Moran, Holly Feret, Elaine H. Zackai, Aaron Theisen, Jill A. Rosenfeld, Michael Parker

    Vydáno 2011
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  6. 6
    Compound heterozygous variants in NBAS as a cause of atypical osteogenesis imperfecta

    Compound heterozygous variants in NBAS as a cause of atypical osteogenesis imperfecta Autor Meena Balasubramanian, Jane A. Hurst, Stephen Brown, Nick Bishop, Paul Arundel, Catherine DeVile, Rebecca C. Pollitt, Lucy Crooks, Dáša Longman, Javier F. Cáceres, Fiona Shackley, Sally Connolly, Jeanette H. Payne, Amaka C Offiah, David J. Hughes, Michael Parker, Yoshihide Hayashizaki, Timothy M. Skerry

    Vydáno 2016
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  7. 7
    SMAD6 variants in craniosynostosis: genotype and phenotype evaluation

    SMAD6 variants in craniosynostosis: genotype and phenotype evaluation Autor Eduardo Calpena, Araceli Cuellar, Krithi Bala, Sigrid M.A. Swagemakers, Nils Koelling, Simon J. McGowan, Julie Phipps, Meena Balasubramanian, Michael L. Cunningham, Sofia Douzgou, Wanda Lattanzi, Jenny E.V. Morton, Deborah Shears, Astrid Weber, Louise C. Wilson, Helen Lord, Tracy Lester, David Johnson, Steven A. Wall, Stephen R.F. Twigg, Irene M.J. Mathijssen, F. Boardman-Pretty, Simeon A. Boyadjiev, Andrew O.M. Wilkie

    Vydáno 2020
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  8. 8
    The Phenotypic Continuum of <i>ATP1A3</i> -Related Disorders

    The Phenotypic Continuum of <i>ATP1A3</i> -Related Disorders Autor Aikaterini Vezyroglou, Rhoda Akilapa, Katy Barwick, Saskia Koene, Catherine A. Brownstein, Muriel Holder‐Espinasse, Andrew E. Fry, Andrea H. Németh, George K. Tofaris, Eleanor Hay, Imelda Hughes, Sahar Mansour, Santosh Mordekar, Miranda Splitt, Peter D. Turnpenny, D.Z. Demetriou, Tamara T. Koopmann, Claudia Ruivenkamp, Pankaj B. Agrawal, Lucinda Carr, Virginia Clowes, Neeti Ghali, Susan Holder, Jessica A. Radley, Alison Male, Sanjay M. Sisodiya, Manju A. Kurian, J. Helen Cross, Meena Balasubramanian

    Vydáno 2022
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  9. 9
    Recommendations for whole genome sequencing in diagnostics for rare diseases

    Recommendations for whole genome sequencing in diagnostics for rare diseases Autor Erika Souche, Sergi Beltrán, Erwin Brosens, John W. Belmont, Magdalena Fossum, Olaf Rieß, Christian Gilissen, Amin Ardeshirdavani, Gunnar Houge, Mariëlle van Gijn, Jill Clayton‐Smith, Matthis Synofzik, Nicole de Leeuw, Zandra C. Deans, Yasemin Dincer, Sebastian Eck, Saskia van der Crabben, Meena Balasubramanian, Holm Graeßner, Marc Sturm, Helen V. Firth, Alessandra Ferlini, Rima Nabbout, Elfride De Baere, Thomas Liehr, Milan Maçek, Gert Matthijs, Hans Scheffer, Peter Bauer, Helger G. Yntema, Marjan M. Weiss

    Vydáno 2022
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  10. 10
    Clinical delineation and natural history of the <i>PIK3CA</i>‐related overgrowth spectrum

    Clinical delineation and natural history of the <i>PIK3CA</i>‐related overgrowth spectrum Autor Kim M. Keppler‐Noreuil, Julie C. Sapp, Marjorie J. Lindhurst, Victoria E R Parker, Cathy Blumhorst, Thomas N. Darling, Laura L. Tosi, Susan Huson, Richard W. Whitehousé, Eveliina Jakkula, I. P. Grant, Meena Balasubramanian, Kate Chandler, Jamie L. Fraser, Zoran Gucev, Yanick J. Crow, Leslie Manace Brennan, Robin D. Clark, Elizabeth A. Sellars, Loren Peña, Vidya Krishnamurty, Andrew Y. Shuen, Nancy Braverman, Michael L. Cunningham, V. Reid Sutton, Velibor Tasić, John M. Graham, Joseph S. Geer, Alex Henderson, Robert K. Semple, Leslie G. Biesecker

    Vydáno 2014
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  11. 11
    Cohesin complex-associated holoprosencephaly

    Cohesin complex-associated holoprosencephaly Autor Paul Kruszka, Seth Berger, Valentina Casà, Mike R. Dekker, Jenna Gaesser, Karin Weiss, Ariel F. Martinez, David R. Murdock, Raymond J. Louie, Eloise J. Prijoles, Angie Lichty, Oebele F. Brouwer, Evelien Zonneveld‐Huijssoon, Mark J. Stephan, Jacob S. Hogue, Ping Hu, Momoko Tanima-Nagai, Joshua L. Everson, Chitra Prasad, Anna Cereda, Maria Iascone, Allison Schreiber, Vickie Zurcher, Nicole Corsten‐Janssen, Luis Escobar, Nancy J. Clegg, Mauricio R. Delgado, Omkar Hajirnis, Meena Balasubramanian, Hülya Kayserili, Matthew A. Deardorff, Raymond A. Poot, Kerstin S. Wendt, Robert J. Lipinski, Maximilian Muenke

    Vydáno 2019
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  12. 12
    Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms

    Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms Autor Caroline F. Wright, Nicholas M. Quaife, Laura Ramos-Hernández, Petr Danecek, Matteo P. Ferla, Kaitlin E. Samocha, Joanna Kaplanis, Eugene J. Gardner, Ruth Y. Eberhardt, Katherine R. Chao, Konrad J. Karczewski, Joannella Morales, Giuseppe Gallone, Meena Balasubramanian, Siddharth Banka, Lianne Gompertz, Bronwyn Kerr, Amelia Kirby, Sally Ann Lynch, Jenny E.V. Morton, Hailey Pinz, Francis H. Sansbury, Helen Stewart, Britton Zuccarelli, Stuart A. Cook, Jenny C. Taylor, Jane Juusola, Kyle Retterer, Helen V. Firth, Matthew E. Hurles, Enrique Lara‐Pezzi, Paul J.R. Barton, Nicola Whiffin

    Vydáno 2021
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  13. 13
    Quantifying the contribution of recessive coding variation to developmental disorders

    Quantifying the contribution of recessive coding variation to developmental disorders Autor Hilary C. Martin, Wendy D. Jones, Rebecca E. McIntyre, Gabriela Sánchez-Andrade, Mark Sanderson, James Stephenson, Carla P. Jones, Juliet Handsaker, Giuseppe Gallone, Michaela Bruntraeger, Jeremy F. McRae, Elena Prigmore, Patrick Short, Mari Niemi, Joanna Kaplanis, Elizabeth J. Radford, Nadia Akawi, Meena Balasubramanian, John Dean, Rachel Horton, Alice Hulbert, Diana Johnson, Katie Johnson, Dhavendra Kumar, Sally Ann Lynch, Sarju Mehta, Jenny Morton, Michael Parker, Miranda Splitt, Peter D. Turnpenny, Pradeep Vasudevan, Michael Wright, Andrew Bassett, Sebastian S. Gerety, Caroline F. Wright, David Fitzpatrick, Helen V. Firth, Matthew E. Hurles, Jeffrey C. Barrett

    Vydáno 2018
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  14. 14
    Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families

    Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families Autor Nadia Akawi, Jeremy F. McRae, Morad Ansari, Meena Balasubramanian, Moira Blyth, Angela F. Brady, Stephen Clayton, Trevor Cole, Charu Deshpande, Tomas Fitzgerald, Nicola Foulds, Richard Francis, George C. Gabriel, Sebastian S. Gerety, Judith Goodship, Emma Hobson, Wendy D. Jones, Shelagh Joss, Daniel A. King, Nikolai Klena, Ajith Kumar, Melissa Lees, Chris Lelliott, Jenny Lord, Dominic McMullan, Mary O’Regan, Deborah Osio, Virginia Piombo, Elena Prigmore, Diana Rajan, Elisabeth Rosser, Alejandro Sifrim, Audrey Smith, G. Jawahar Swaminathan, Peter D. Turnpenny, James W. Whitworth, Caroline F. Wright, Helen V. Firth, Jeffrey C. Barrett, Cecilia Lo, David Fitzpatrick, Matthew E. Hurles

    Vydáno 2015
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  15. 15
    Mutation update for the <i>SATB2</i> gene

    Mutation update for the <i>SATB2</i> gene Autor Yuri A. Zárate, Katherine A. Bosanko, Aislling R. Caffrey, Jonathan A. Bernstein, Donna M. Martin, Marc S. Williams, Elizabeth Berry‐Kravis, Paul R. Mark, Melanie A. Manning, Vikas Bhambhani, Marcelo Alves Vargas, Andrea Seeley, Juvianee Estrada‐Veras, Marieke F. van Dooren, Maria Schwab, Adeline Vanderver, Daniela Melis, Adnan Alsadah, Laurie S. Sadler, Hilde Van Esch, Bert Callewaert, Ann Oostra, Jane MacLean, Maria Lisa Dentici, Valeria Orlando, Mark Lipson, Steven Sparagana, Timothy J. Maarup, Suzanne Alsters, Ariel Brautbar, Eliana Kovitch Thropp, Sakkubai Naidu, Melissa Lees, Douglas M. Smith, Lesley Turner, Víctor Raggio, Lucía Spangenberg, Sixto García‐Miñaúr, Elizabeth Roeder, Rebecca O. Littlejohn, Dorothy K. Grange, Jean P. Pfotenhauer, Marilyn C. Jones, Meena Balasubramanian, Antonio Federico Martínez‐Monseny, Lot Snijders Blok, Ralitza Gavrilova, Jennifer L. Fish

    Vydáno 2019
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  16. 16
    Expanding the phenotype of <scp><i>ASXL3</i></scp>‐related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in <scp><i>ASXL3</i></scp>

    Expanding the phenotype of <scp><i>ASXL3</i></scp>‐related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in <sc... Autor Schaida Schirwani, Shadi Albaba, Deanna Alexis Carere, María J. Guillen Sacoto, Francisca Milan Zamora, Yue Si, Rachel Rabin, John Pappas, Deborah L. Renaud, Natalie Hauser, Evan Reid, Patricia Blanchet, Nichola Foulds, Abhijit Dixit, Richard Fisher, Ruth Armstrong, Bertrand Isidor, Benjamin Cogné, Samantha A. Schrier Vergano, Serwet Demirdas, Natalie Dykzeul, Julie S. Cohen, Katheryn Grand, Dayna Morel Swols, Anne Slavotinek, Hessa F. Albassam, Swati Naik, John Dean, Nicola Ragge, Cinzia Costa, Maria Giovanna Tedesco, Rachel Harrison, Arjan Bouman, Emily Palen, Thomas D. Challman, Marjolein H. Willemsen, Julie Vogt, Christopher Cunniff, Katherine Bergstrom, Jagdeep S. Walia, Ange‐Line Bruel, Usha Kini, Fowzan S. Alkuraya, Valerie Slegesky, Naomi Meeks, Paula Natale Girotto, Diana Johnson, Ruth Newbury‐Ecob, Charlotte W. Ockeloen, Paolo Prontera, Sally Ann Lynch, Dong Li, John M. Graham, Tyler Mark Pierson, Meena Balasubramanian

    Vydáno 2021
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  17. 17
    Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848

    Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848 Autor Magdalena Koczkowska, Yunjia Chen, Tom Callens, Alicia Gomes, Angela Sharp, Sherrell Johnson, Meng-Chang Hsiao, Zhenbin Chen, Meena Balasubramanian, Christopher Barnett, Troy A. Becker, Shay Ben‐Shachar, Débora Romeo Bertola, Jaishri O. Blakeley, Emma Burkitt‐Wright, Alison Callaway, Melissa Crenshaw, Karin Soares Cunha, Mitch Cunningham, Daniela D’Agostino, Karin Dahan, Alessandro De Luca, Anne Destrèe, Radhika Dhamija, Marica Eoli, D. Gareth Evans, Patricia Galvin‐Parton, Jaya K. George‐Abraham, Karen W. Gripp, José Guevara-Campos, Neil A. Hanchard, Concepción Hernández-Chico, LaDonna Immken, Sandra Janssens, Kristi Jones, Beth Keena, Aaina Kochhar, Jan Liebelt, Arelis Martir-Negron, Maurice J. Mahoney, Isabelle Maystadt, Carey McDougall, Meriel McEntagart, Nancy J. Mendelsohn, David T. Miller, Geert Mortier, Jenny Morton, John Pappas, Scott R. Plotkin, Dinel Pond, Kenneth N. Rosenbaum, Karol Rubin, Laura Russell, Lane Rutledge, Veronica Saletti, Rhonda Schonberg, Allison Schreiber, Meredith Seidel, Elizabeth Siqveland, David W. Stockton, Eva Trevisson, Nicole J. Ullrich, Meena Upadhyaya, Rick van Minkelen, Hélène Verhelst, Margaret R. Wallace, Yoon Sim Yap, Elaine H. Zackai, Jonathan Zonana, Vickie Zurcher, Kathleen Claes, Yolanda Martín, Bruce R. Korf, Eric Legius, Ludwine Messiaen

    Vydáno 2017
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  18. 18
    Prevalence, phenotype and architecture of developmental disorders caused by <i>de novo</i> mutation: The Deciphering Developmental Disorders Study

    Prevalence, phenotype and architecture of developmental disorders caused by <i>de novo</i> mutation: The Deciphering Developmental Disorders Study Autor Jeremy F. McRae, Stephen Clayton, Tomas Fitzgerald, Joanna Kaplanis, Elena Prigmore, Diana Rajan, Alejandro Sifrim, Stuart Aitken, Nadia Akawi, Mohsan Alvi, Kirsty Ambridge, Daniel M. Barrett, Tanya Bayzetinova, Philip Jones, Wendy D. Jones, Daniel A. King, Netravathi Krishnappa, Laura E. Mason, Tarjinder Singh, Adrian R. Tivey, Munaza Ahmed, Uruj Anjum, Hayley Archer, Ruth Armstrong, Jana Awada, Meena Balasubramanian, Siddharth Banka, Diana Baralle, Angela Barnicoat, Paul Batstone, David Baty, Chris Bennett, Jonathan Berg, Birgitta Bernhard, A. Paul Bevan, Maria Bitner‐Glindzicz, Edward Blair, Moira Blyth, David Bohanna, Louise Bourdon, David Bourn, Lisa Bradley, Angela Brady, Simon Brent, Carole Brewer, Kate Brunstrom, David J. Bunyan, John Burn, Natalie Canham, Bruce Castle, Kate Chandler, Elena Chatzimichali, Deirdre Cilliers, Angus Clarke, Susan Clasper, Jill Clayton‐Smith, Virginia Clowes, Andrea Coates, Trevor Cole, Irina Colgiu, Amanda Collins, Morag N. Collinson, Fiona Connell, Nicola Cooper, Helen Cox, Lara Cresswell, Gareth Cross, Yanick J. Crow, Mariella D’Alessandro, Tabib Dabir, Rosemarie Davidson, Sally Davies, Dylan H. de Vries, John Dean, Charu Deshpande, Gemma Devlin, Abhijit Dixit, Angus Dobbie, Alan Donaldson, Dian Donnai, Deirdre Donnelly, Carina Donnelly, Angela Douglas, Sofia Douzgou, Alexis E. Duncan, Jacqueline Eason, Sian Ellard, Ian O. Ellis, Frances Elmslie, Karenza Evans, Sarah Everest, Tina Fendick, Richard Fisher, Frances Flinter, Nicola Foulds, AndrewW Fry, Alan Fryer, Carol Gardiner, Lorraine Gaunt, Neeti Ghali

    Vydáno 2016
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  19. 19
    Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders

    Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders Autor Víctor Faúndes, William G. Newman, Laura Bernardini, Natalie Canham, Jill Clayton‐Smith, Bruno Dallapiccola, Sally Davies, Michelle Demos, Amy Goldman, Harinder Gill, Rachel Horton, Bronwyn Kerr, Dhavendra Kumar, Anna Lehman, Shane McKee, Jenny Morton, Michael Parker, Julia Rankin, Lisa Robertson, I. Karen Temple, Siddharth Banka, Shelin Adam, Christèle du Souich, Alison M. Elliott, Anna Lehman, Jill Mwenifumbo, Tanya N. Nelson, Clara van Karnebeek, Jan M. Friedman, Jeremy F. McRae, Stephen Clayton, Tomas Fitzgerald, Joanna Kaplanis, Elena Prigmore, Diana Rajan, Alejandro Sifrim, Stuart Aitken, Nadia Akawi, Mohsan Alvi, Kirsty Ambridge, Daniel M. Barrett, Tanya Bayzetinova, Philip Jones, Wendy D. Jones, Daniel King, Netravathi Krishnappa, Laura E. Mason, Tarjinder Singh, Adrian R. Tivey, Munaza Ahmed, Uruj Anjum, Hayley Archer, Ruth Armstrong, Jana Awada, Meena Balasubramanian, Siddharth Banka, Diana Baralle, Angela Barnicoat, Paul Batstone, David Baty, Chris Bennett, Jonathan Berg, Birgitta Bernhard, A. Paul Bevan, Maria Bitner‐Glindzicz, Edward Blair, Moira Blyth, David Bohanna, Louise Bourdon, David Bourn, Lisa Bradley, Angela F. Brady, Simon Brent, Carole Brewer, Kate Brunstrom, David J. Bunyan, John Burn, Natalie Canham, Bruce Castle, Kate Chandler, Elena Chatzimichali, Deirdre Cilliers, Angus Clarke, Susan Clasper, Jill Clayton‐Smith, Virginia Clowes, Andrea Coates, Trevor Cole, Irina Colgiu, Amanda Collins, Morag N. Collinson, Fiona Connell, Nicola Cooper, Helen Cox, Lara Cresswell, Gareth Cross, Yanick J. Crow, Mariella D’Alessandro, Tabib Dabir, Rosemarie Davidson

    Vydáno 2017
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  20. 20
    CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

    CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language Autor Lot Snijders Blok, Justine Rousseau, Joanna Twist, Sophie Ehresmann, Motoki Takaku, Hanka Venselaar, Lance H. Rodan, C. Nowak, Jessica Douglas, Kathryn J. Swoboda, Marcie Steeves, Inderneel Sahai, Connie T. R. M. Stumpel, Alexander P.A. Stegmann, Patricia G. Wheeler, Marcia Willing, Elise Fiala, Aaina Kochhar, William T. Gibson, Ana S.A. Cohen, Ruky Agbahovbe, A. Micheil Innes, Ping Yee Billie Au, Julia Rankin, Ilse J. Anderson, Steven A. Skinner, Raymond J. Louie, Hannah Warren, Alexandra Afenjar, Boris Keren, Caroline Nava, Julien Buratti, Arnaud Isapof, Diana Rodriguez, Raymond Lewandowski, Jennifer Propst, Ton van Essen, Murim Choi, Sangmoon Lee, Jong‐Hee Chae, Susan Price, Rhonda E. Schnur, Ganka Douglas, Ingrid M. Wentzensen, Christiane Zweier, André Reis, Martin G. Bialer, Christine Moore, Marion Koopmans, Eva H. Brilstra, Glen R. Monroe, Koen L.I. van Gassen, Ellen van Binsbergen, Ruth Newbury‐Ecob, Lucy Bownass, Ingrid Bader, Johannes A. Mayr, Saskia B. Wortmann, Kathy J. Jakielski, Edythe A. Strand, Katja Kloth, Tatjana Bierhals, Jeremy F. McRae, Stephen Clayton, Tomas Fitzgerald, Joanna Kaplanis, Elena Prigmore, Diana Rajan, Alejandro Sifrim, Stuart Aitken, Nadia Akawi, Mohsan Alvi, Kirsty Ambridge, Daniel M. Barrett, Tanya Bayzetinova, Philip Jones, Wendy D Jones, Daniel King, Netravathi Krishnappa, Laura E. Mason, Tarjinder Singh, Adrian R. Tivey, Munaza Ahmed, Uruj Anjum, Hayley Archer, Ruth Armstrong, Jana Awada, Meena Balasubramanian, Siddharth Banka, Diana Baralle, Angela Barnicoat, Paul Batstone, David Baty, Chris Bennett, Jonathan Berg, Birgitta Bernhard, A. Paul Bevan, Maria Bitner‐Glindzicz, E Blair, Moira Blyth

    Vydáno 2018
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