检索结果 - Carole Brewer

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  1. 1
    Survival in trisomy 13 and trisomy 18 cases ascertained from population based registers

    Survival in trisomy 13 and trisomy 18 cases ascertained from population based registers 由 Carole Brewer

    出版 2002
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  2. 2
    A Chromosomal Deletion Map of Human Malformations

    A Chromosomal Deletion Map of Human Malformations 由 Carole Brewer, Susan Holloway, Paul Zawalnyski, Albert Schinzel, David Fitzpatrick

    出版 1998
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  3. 3
    A Chromosomal Duplication Map of Malformations: Regions of Suspected Haplo- and Triplolethality—and Tolerance of Segmental Aneuploidy—in Humans

    A Chromosomal Duplication Map of Malformations: Regions of Suspected Haplo- and Triplolethality—and Tolerance of Segmental Aneuploidy—in Humans 由 Carole Brewer, Susan Holloway, Paul Zawalnyski, Albert Schinzel, David Fitzpatrick

    出版 1999
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  4. 4
    A Locus for Isolated Cleft Palate, Located on Human Chromosome 2q32

    A Locus for Isolated Cleft Palate, Located on Human Chromosome 2q32 由 Carole Brewer, Jack P. Leek, Andrew Green, Susan M. Holloway, David T. Bonthron, A.F. Markham, David Fitzpatrick

    出版 1999
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  5. 5
    Evaluation of <scp>SDHB</scp>,<scp> SDHD</scp> and <scp>VHL</scp> gene susceptibility testing in the assessment of individuals with non‐syndromic phaeochromocytoma, paraganglioma and head and neck paraganglioma

    Evaluation of <scp>SDHB</scp>,<scp> SDHD</scp> and <scp>VHL</scp> gene susceptibility testing in the assessment of individuals with non‐syndromic phaeochromocytoma, paraganglioma a... 由 Mariam Jafri, James W. Whitworth, Eleanor Rattenberry, Lindsey Vialard, Gail Kilby, Ajith Kumar, Louise Izatt, Fiona Lalloo, Paul Brennan, Jackie Cook, Patrick J. Morrison, Natalie Canham, Ruth Armstrong, Carole Brewer, Susan Tomkins, Alan Donaldson, Julian Barwell, Trevor Cole, A. Brew Atkinson, Simon Aylwin, Steve Ball, Umasuthan Srirangalingam, Shern L. Chew, D. Gareth Evans, Shirley V. Hodgson, Richard Irving, Emma R. Woodward, Fiona MacDonald, Eamonn R. Maher

    出版 2012
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  6. 6
    Value of the loss of heterozygosity to BRCA1 variant classification

    Value of the loss of heterozygosity to BRCA1 variant classification 由 Elizabeth Santana Dos Santos, Amanda B. Spurdle, Dirce Maria Carraro, Adrien Briaux, Melissa C. Southey, Giovana Tardin Torrezan, Ambre Petitalot, Raphaël Leman, Philippe Lafitte, Didier Meseure, Keltouma Driouch, Lucy Side, Carole Brewer, Sarah Beck, Athalie Melville, Alison Callaway, Françoise Révillion, Maria Aparecida Azevedo Koike Folgueira, Michael T. Parsons, Heather Thorne, Anne Vincent‐Salomon, Dominique Stoppa‐Lyonnet, Ivan Bièche, Sandrine M. Caputo, Étienne Rouleau, NULL AUTHOR_ID

    出版 2022
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  7. 7
    Germline pathogenic variants in PALB2 and other cancer-predisposing genes in families with hereditary diffuse gastric cancer without CDH1 mutation: a whole-exome sequencing study

    Germline pathogenic variants in PALB2 and other cancer-predisposing genes in families with hereditary diffuse gastric cancer without CDH1 mutation: a whole-exome sequencing study 由 Eleanor Fewings, Alexey A. Larionov, James Redman, Mae A. Goldgraben, James A. Scarth, Susan Richardson, Carole Brewer, Rosemarie Davidson, Ian O. Ellis, D. Gareth Evans, Dorothy Halliday, Louise Izatt, Peter Marks, Vivienne McConnell, L Verbist, Rebecca Mayes, Graeme R. Clark, James Hadfield, Suet‐Feung Chin, Manuel R. Teixeira, Olivier Giger, Richard Hardwick, Massimiliano di Pietro, Maria O’Donovan, Paul D.P. Pharoah, Carlos Caldas, Rebecca C. Fitzgerald, Marc Tischkowitz

    出版 2018
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  8. 8
    Prostate Cancer Risks for Male BRCA1 and BRCA2 Mutation Carriers: A Prospective Cohort Study

    Prostate Cancer Risks for Male BRCA1 and BRCA2 Mutation Carriers: A Prospective Cohort Study 由 Tommy Nyberg, Debra Frost, Daniel Barrowdale, D. Gareth Evans, Elizabeth Bancroft, Julian Adlard, Munaza Ahmed, Julian Barwell, Angela F. Brady, Carole Brewer, Jackie Cook, Rosemarie Davidson, Alan Donaldson, Jacqueline Eason, Helen Gregory, Alex Henderson, Louise Izatt, Michael J. Kennedy, Claire Miller, Patrick J. Morrison, Alex Murray, Kai‐Ren Ong, Mary Porteous, Caroline Pottinger, Mark T. Rogers, Lucy Side, Katie Snape, Lisa Walker, Marc Tischkowitz, Rosalind A. Eeles, Douglas F. Easton, Antonis C. Antoniou

    出版 2019
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  9. 9
    Cancer Risks for BRCA1 and BRCA2 Mutation Carriers: Results From Prospective Analysis of EMBRACE

    Cancer Risks for BRCA1 and BRCA2 Mutation Carriers: Results From Prospective Analysis of EMBRACE 由 Nasim Mavaddat, Susan Peock, Debra Frost, Ian O. Ellis, Radka Platte, Elena Fineberg, D. Gareth Evans, Louise Izatt, Rosalind A. Eeles, Julian Adlard, Rosemarie Davidson, Diana Eccles, Trevor Cole, Jackie Cook, Carole Brewer, Marc Tischkowitz, Fiona Douglas, Shirley Hodgson, Lisa Walker, Mary Porteous, Patrick J. Morrison, Lucy Side, Michael J. Kennedy, Catherine Houghton, Alan Donaldson, Mark T. Rogers, Huw Dorkins, Zosia Miedzybrodzka, Helen Gregory, Jacqueline Eason, Julian Barwell, Emma McCann, Alex Murray, Antonis C. Antoniou, Douglas F. Easton

    出版 2013
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  10. 10
    Germline <i>BRCA</i> Mutations Are Associated With Higher Risk of Nodal Involvement, Distant Metastasis, and Poor Survival Outcomes in Prostate Cancer

    Germline <i>BRCA</i> Mutations Are Associated With Higher Risk of Nodal Involvement, Distant Metastasis, and Poor Survival Outcomes in Prostate Cancer 由 Elena Castro, Chee Goh, David Olmos, Edward J. Saunders, Daniel Leongamornlert, Malgorzata Tymrakiewicz, Nadiya Mahmud, Tokhir Dadaev, Koveela Govindasami, Michelle Guy, Emma Sawyer, Rosemary Wilkinson, Audrey Ardern‐Jones, Ian O. Ellis, Debra Frost, Susan Peock, D. Gareth Evans, Marc Tischkowitz, Trevor Cole, Rosemarie Davidson, Diana Eccles, Carole Brewer, Fiona Douglas, Mary Porteous, Alan Donaldson, Huw Dorkins, Louise Izatt, Jackie Cook, Shirley Hodgson, Michael J. Kennedy, Lucy Side, Jacqueline Eason, Alex Murray, Antonis C. Antoniou, Douglas F. Easton, Zsofia Kote‐Jarai, Rosalind A. Eeles

    出版 2013
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  11. 11
    Cancer prevention with aspirin in hereditary colorectal cancer (Lynch syndrome), 10-year follow-up and registry-based 20-year data in the CAPP2 study: a double-blind, randomised, placebo-controlled trial

    Cancer prevention with aspirin in hereditary colorectal cancer (Lynch syndrome), 10-year follow-up and registry-based 20-year data in the CAPP2 study: a double-blind, randomised, p... 由 John Burn, Harsh Sheth, Faye Elliott, Lynn Reed, Finlay Macrae, Jukka‐Pekka Mecklin, Gabriela Möslein, Fiona E. McRonald, Lucio Bertario, D. Gareth Evans, Anne‐Marie Gerdes, Judy W.C. Ho, Annika Lindblom, Patrick J. Morrison, Jem Rashbass, Raj Ramesar, Toni T. Seppälä, Huw Thomas, Kirsi Pylvänäinen, Gillian M. Borthwick, John C. Mathers, D. Timothy Bishop, Alex Boussioutas, Carole Brewer, Jackie Cook, Diana Eccles, Anthony Ellis, Shirley V. Hodgson, Jan Lubiński, Eamonn R. Maher, Mary Porteous, Julian R. Sampson, Rodney J. Scott, Lucy Side

    出版 2020
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  12. 12
    Tumour risks and genotype–phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes <i>SDHB</i>, <i>SDHC</i> and <i>SDHD</i>

    Tumour risks and genotype–phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes <i>SDHB</i>, <i>SDHC</i> and <i>SDHD</i> 由 Katrina Andrews, David B. Ascher, Douglas E. V. Pires, Daniel R. Barnes, Lindsey Vialard, Ruth Casey, Nicola Bradshaw, Julian Adlard, Simon Aylwin, Paul Brennan, Carole Brewer, Trevor Cole, Jackie Cook, Rosemarie Davidson, Alan Donaldson, Alan Fryer, Lynn Greenhalgh, Shirley V. Hodgson, Richard Irving, Fiona Lalloo, Michelle McConachie, Vivienne McConnell, Patrick J. Morrison, Victoria Murday, Soo‐Mi Park, Helen Simpson, Katie Snape, Susan E. Stewart, Susan Tomkins, Yvonne Wallis, Louise Izatt, David Goudie, Robert S. Lindsay, Colin Perry, Emma R. Woodward, Antonis C. Antoniou, Eamonn R. Maher

    出版 2018
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  13. 13
    Germline mutations in RAD51D confer susceptibility to ovarian cancer

    Germline mutations in RAD51D confer susceptibility to ovarian cancer 由 Chey Loveday, Clare Turnbull, Emma Ramsay, Deborah Hughes, Elise Ruark, Jessica Frankum, Georgina R. Bowden, Bolot Kalmyrzaev, Margaret Warren-Perry, Katie Snape, Julian Adlard, Julian Barwell, Jonathan Berg, Angela F. Brady, Carole Brewer, Glen Brice, Cyril Chapman, Jackie Cook, Rosemarie Davidson, Alan Donaldson, Fiona Douglas, Lynn Greenhalgh, Alex Henderson, Louise Izatt, Ajith Kumar, Fiona Lalloo, Zosia Miedzybrodzka, Patrick J. Morrison, Joan Paterson, Mary Porteous, Mark T. Rogers, Susan Shanley, Lisa Walker, Diana Eccles, D. Gareth Evans, Anthony Renwick, Sheila Seal, Christopher J. Lord, Alan Ashworth, Jorge S. Reis‐Filho, Antonis C. Antoniou, Nazneen Rahman

    出版 2011
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  14. 14
    Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants

    Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants 由 Daniel R. Barnes, Matti A. Rookus, Lesley McGuffog, Goska Leslie, Thea M. Mooij, Joe Dennis, Nasim Mavaddat, Julian Adlard, Munaza Ahmed, Kristiina Aittomäki, Nadine Andrieu, Irene L. Andrulis, Norbert Arnold, Banu K. Arun, Jacopo Azzollini, Judith Balmañà, Rósa B. Barkardóttir, Daniel Barrowdale, Javier Benı́tez, Pascaline Berthet, Katarzyna Białkowska, Amie Blanco, Marinus J. Blok, Bernardo Bonanni, Susanne E. Boonen, Åke Borg, Anikó Bozsik, Angela R. Bradbury, Paul Brennan, Carole Brewer, Joan Brunet, Saundra S. Buys, Trinidad Caldés, Maria A. Caligo, Ian Campbell, Lise Lotte Christensen, Wendy K. Chung, Kathleen Claes, Chrystelle Colas, Pascaline Berthet, Chrystelle Colas, Marie‐Agnès Collonge‐Rame, Capucine Delnatte, Laurence Faivre, Sophie Giraud, Christine Lasset, Véronique Mari, Noura Mebirouk, Emmanuelle Mouret‐Fourme, Hélène Schuster, Dominique Stoppa‐Lyonnet, Julian Adlard, Munaza Ahmed, Antonis C. Antoniou, Daniel Barrowdale, Paul Brennan, Carole Brewer, Jackie Cook, Rosemarie Davidson, Douglas F. Easton, Rosalind A. Eeles, D. Gareth Evans, Debra Frost, Helen Hanson, Louise Izatt, Kai-Ren Ong, Lucy Side, Aoife O’Shaughnessy-Kirwan, Marc Tischkowitz, Lisa Walker, Marie‐Agnès Collonge‐Rame, Jackie Cook, Mary B. Daly, Rosemarie Davidson, Miguel de la Hoya, Robin De Putter, Capucine Delnatte, Peter Devilee, Orland Dı́ez, Yuan Chun Ding, Susan M. Domchek, Cecilia M. Dorfling, Martine Dumont, Rosalind A. Eeles, Bent Ejlertsen, Christoph Engel, D. Gareth Evans, Laurence Faivre, Lenka Foretová, Florentia Fostira, Michael Friedlander, Eitan Friedman, Debra Frost, Patricia A. Ganz, Judy E. Garber, Andrea Gehrig, Anne‐Marie Gerdes, Paul Gesta, Sophie Giraud, Gord Glendon

    出版 2020
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  15. 15
    Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer

    Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer 由 Elise Ruark, Katie Snape, Peter Humburg, Chey Loveday, Ilirjana Bajrami, Rachel Brough, Daniel Nava Rodrigues, Anthony Renwick, Sheila Seal, Emma Ramsay, Silvana Del Vecchio Duarte, Manuel A. Rivas, Margaret Warren-Perry, Anna Zachariou, Adriana Campion‐Flora, Sandra Hanks, Anne R. Murray, Naser Ansari‐Pour, Jenny Douglas, Lorna Gregory, Andrew J. Rimmer, Neil Walker, Tsun-Po Yang, Julian Adlard, Julian Barwell, Jonathan Berg, Angela F. Brady, Carole Brewer, Glen Brice, Cyril Chapman, Jackie Cook, Rosemarie Davidson, Alan Donaldson, Fiona Douglas, Diana Eccles, D. Gareth Evans, Lynn Greenhalgh, Alex Henderson, Louise Izatt, Ajith Kumar, Fiona Lalloo, Zosia Miedzybrodzka, Patrick J. Morrison, Joan Paterson, Mary Porteous, Mark T. Rogers, Susan Shanley, Lisa Walker, Martin Gore, Richard S. Houlston, Matthew A. Brown, Mark J. Caufield, Panos Deloukas, Mark I. McCarthy, John A. Todd, Clare Turnbull, Jorge S. Reis‐Filho, Alan Ashworth, Antonis C. Antoniou, Christopher J. Lord, Peter Donnelly, Nazneen Rahman

    出版 2012
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  16. 16
    Risk-reducing salpingo-oophorectomy, natural menopause, and breast cancer risk: an international prospective cohort of BRCA1 and BRCA2 mutation carriers

    Risk-reducing salpingo-oophorectomy, natural menopause, and breast cancer risk: an international prospective cohort of BRCA1 and BRCA2 mutation carriers 由 Nasim Mavaddat, Antonis C. Antoniou, Thea M. Mooij, Maartje J. Hooning, Bernadette A. M. Heemskerk‐Gerritsen, Catherine Noguès, Marion Gauthier‐Villars, Olivier Caron, Paul Gesta, Pascal Pujol, Alain Lortholary, Daniel Barrowdale, Debra Frost, D. Gareth Evans, Louise Izatt, Julian Adlard, Rosalind A. Eeles, Carole Brewer, Marc Tischkowitz, Alex Henderson, Jackie Cook, Diana Eccles, Klaartje van Engelen, Marian J.E. Mourits, Margreet G.E.M. Ausems, Linetta B. Koppert, John L. Hopper, Esther M. John, Wendy K. Chung, Irene L. Andrulis, Mary B. Daly, Saundra S. Buys, Javier Benı́tez, Trinidad Caldés, Anna Jakubowska, Jacques Simard, Christian F. Singer, Yen Y. Tan, Edith Oláh, Marie Navrátilová, Lenka Foretová, Anne‐Marie Gerdes, Marie-José Roos-Blom, Flora E. van Leeuwen, Brita Arver, Håkan Olsson, Rita K. Schmutzler, Christoph Engel, Karin Kast, Kelly‐Anne Phillips, Mary Beth Terry, Roger L. Milne, David E. Goldgar, Matti A. Rookus, Nadine Andrieu, Douglas F. Easton

    出版 2020
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  17. 17
    Combined genetic and splicing analysis of BRCA1 c.[594-2A&gt;C; 641A&gt;G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms

    Combined genetic and splicing analysis of BRCA1 c.[594-2A&gt;C; 641A&gt;G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant... 由 Miguel de la Hoya, Omar Soukarieh, Irene López‐Perolio, Ana Vega, Logan C. Walker, Yvette van Ierland, Diana Baralle, Marta Santamariña, Vanessa Lattimore, Juul Wijnen, Philip J. Whiley, Ana Blanco, Michela Raponi, Jan Hauke, Barbara Wappenschmidt, Alexandra Becker, Thomas van Overeem Hansen, Raquel Behar, kConFab Investigators, Diether Niederacher, Norbert Arnold, Bernd Dworniczak, Doris Steinemann, Ulrike Faust, Wendy S. Rubinstein, Peter J. Hulick, Claude Houdayer, Sandrine M. Caputo, Laurent Castéra, Tina Pesaran, Elizabeth Chao, Carole Brewer, Melissa C. Southey, Christi J. van Asperen, Christian F. Singer, Jan Sullivan, Nicola Poplawski, Phuong Mai, Julian Peto, Nichola Johnson, Barbara Burwinkel, Harald Surowy, Stig E. Bojesen, Henrik Flyger, Annika Lindblom, Sara Margolin, Jenny Chang‐Claude, Anja Rudolph, Paolo Radice, Laura Galastri, Janet E. Olson, Emily Hallberg, Graham G. Giles, Roger L. Milne, Irene L. Andrulis, Gord Glendon, Per Hall, Kamila Czene, Fiona M. Blows, Mitul Shah, Qin Wang, Joe Dennis, Kyriaki Michailidou, Lesley McGuffog, Manjeet K. Bolla, Antonis C. Antoniou, Douglas F. Easton, Fergus J. Couch, Sean V. Tavtigian, Maaike P.G. Vreeswijk, Michael T. Parsons, Huong Meeks, Alexandra Martins, David E. Goldgar, Amanda B. Spurdle

    出版 2016
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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 由 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

    出版 2016
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  19. 19
    Prediction of Breast and Prostate Cancer Risks in Male <i>BRCA1</i> and <i>BRCA2</i> Mutation Carriers Using Polygenic Risk Scores

    Prediction of Breast and Prostate Cancer Risks in Male <i>BRCA1</i> and <i>BRCA2</i> Mutation Carriers Using Polygenic Risk Scores 由 Julie Lecarpentier, Valentina Silvestri, Karoline Kuchenbaecker, Daniel Barrowdale, Joe Dennis, Lesley McGuffog, Penny Soucy, Goska Leslie, Piera Rizzolo, Anna Sara Navazio, Virginia Valentini, Veronica Zelli, Andrew Lee, Ali Amin Al Olama, Jonathan P. Tyrer, Melissa C. Southey, Esther M. John, Thomas Conner, David E. Goldgar, Saundra S. Buys, Ramūnas Janavičius, Linda Steele, Yuan Chun Ding, Susan L. Neuhausen, Thomas van Overeem Hansen, Ana Osório, Jeffrey N. Weitzel, Angela Toss, Veronica Medici, Laura Cortesi, Ines Zanna, Domenico Palli, Paolo Radice, Siranoush Manoukian, Bernard Peissel, Jacopo Azzollini, Alessandra Viel, Giulia Cini, Giuseppe Damante, Stefania Tommasi, Paolo Peterlongo, Florentia Fostira, Ute Hamann, D. Gareth Evans, Alex Henderson, Carole Brewer, Diana Eccles, Jackie Cook, Kai-Ren Ong, Lisa Walker, Lucy Side, Mary Porteous, Rosemarie Davidson, Shirley Hodgson, Debra Frost, Julian Adlard, Louise Izatt, Rosalind A. Eeles, Ian O. Ellis, Marc Tischkowitz, Andrew K. Godwin, Alfons Meindl, Andrea Gehrig, Bernd Dworniczak, Christian Sutter, Christoph Engel, Dieter Niederacher, Doris Steinemann, Eric Hahnen, Jan Hauke, Kerstin Rhiem, Karin Kast, Norbert Arnold, Nina Ditsch, Shan Wang‐Gohrke, Barbara Wappenschmidt, Dorothea Wand, Christine Lasset, Dominique Stoppa‐Lyonnet, Muriel Belotti, Francesca Damiola, Laure Barjhoux, Sylvie Mazoyer, Mattias Van Heetvelde, Bruce Poppe, Kim De Leeneer, Kathleen Claes, Miguel de la Hoya, Vanesa Garcı́a, Miguel de la Hoya, Pedro Pérez Segura, Johanna I. Kiiski, Kristiina Aittomäki, Sofia Khan, Heli Nevanlinna, Christi J. van Asperen, Vaszko Tibor, Miklós Kásler, Edith Oláh, Judith Balmañà

    出版 2017
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  20. 20
    Not all <i>SCN1A</i> epileptic encephalopathies are Dravet syndrome

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

    出版 2017
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