Kết quả tìm kiếm - Amanda Collins
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A 117-kb Microdeletion Removing HOXD9–HOXD13 and EVX2 Causes Synpolydactyly Bằng Frances R. Goodman, Frank Majewski, Amanda Collins, Peter Scambler
Được phát hành 2002Artigo -
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Transcriptional targets of the schizophrenia risk gene MIR137 Bằng Amanda Collins, Y Kim, Rachael J. Bloom, Samir N. P. Kelada, Praveen Sethupathy, Patrick F. Sullivan
Được phát hành 2014Artigo -
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Three patients with ring (X) chromosomes and a severe phenotype. Bằng N R Dennis, Amanda Collins, John A. Crolla, Annette E. Cockwell, Andrew M. Fisher, P. A. Jacobs
Được phát hành 1993Artigo -
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Linkage of a human brain malformation, familial holoprosencephaly, to chromosome 7 and evidence for genetic heterogeneity. Bằng Maximilian Muenke, Fiorella Gurrieri, Christiane Bay, Yi Duan, Amanda Collins, Virginia P. Johnson, Raoul C. M. Hennekam, G. Bradley Schaefer, LuAnn Weik, Mark Lubinsky
Được phát hành 1994Artigo -
6
CNTNAP2 and NRXN1 Are Mutated in Autosomal-Recessive Pitt-Hopkins-like Mental Retardation and Determine the Level of a Common Synaptic Protein in Drosophila Bằng Christiane Zweier, Eiko K. de Jong, Markus Zweier, Alfredo Orrico, Lilian Bomme Ousager, Amanda Collins, Emilia K. Bijlsma, Merel A.W. Oortveld, Arif B. Ekici, André Reis, Annette Schenck, Anita Rauch
Được phát hành 2009Artigo -
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The Angelina Jolie effect: how high celebrity profile can have a major impact on provision of cancer related services Bằng D. Gareth Evans, Julian Barwell, Diana Eccles, Amanda Collins, Louise Izatt, Chris Jacobs, Alan C. Donaldson, Angela F. Brady, Andrew Cuthbert, Rachel Harrison, Sue Thomas, Anthony Howell, Zosia Miedzybrodzka, Alex Murray
Được phát hành 2014Artigo -
8
Multiple rare SAPAP3 missense variants in trichotillomania and OCD Bằng Stephan Züchner, Jens R. Wendland, Allison E. Ashley‐Koch, Amanda Collins, Khanh-Nhat Tran-Viet, Kaia S. Quinn, Kiara R. Timpano, Michael L. Cuccaro, Margaret A. Pericak‐Vance, David C. Steffens, K. Ranga Krishnan, Guoping Feng, Dennis L. Murphy
Được phát hành 2008Revisão -
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3q29 Microdeletion Syndrome: Clinical and Molecular Characterization of a New Syndrome Bằng Lionel Willatt, James J. Cox, John Barber, Elisabet Dachs Cabanas, Amanda Collins, Dian Donnai, David Fitzpatrick, Eddy Maher, Howard Martin, Josep Parnau, Lesley Pindar, Jacqueline Ramsay, Charles Shaw‐Smith, Erik A. Sistermans, Michael Tettenborn, Dorothy Trump, Bert B.A. de Vries, Kate Walker, F. Lucy Raymond
Được phát hành 2005Artigo -
10
Intratumoral Injection of <i>Clostridium novyi</i>-NT Spores in Patients with Treatment-refractory Advanced Solid Tumors Bằng Filip Janků, Halle Huihong Zhang, Abdulmohammad Pezeshki, Sanjay Goel, Ravi Murthy, Andrea Wang‐Gillam, Dale R. Shepard, Thorunn Helgason, Tyler Masters, David S. Hong, Sarina A. Piha‐Paul, Daniel D. Karp, Mark Klang, Steven Y. Huang, Divya Sakamuri, Anjali Raina, Jean Torrisi, Stephen B. Solomon, Alice S. Weissfeld, Ernest Trevino, Gary DeCrescenzo, Amanda Collins, Maria Miller, Jennifer L. Salstrom, Ronald L. Korn, Linping Zhang, Saurabh Saha, Alexey A. Leontovich, David Tung, Brent Kreider, Mary Varterasian, Khashayarsha Khazaie, Mrinal M. Gounder
Được phát hành 2020Artigo -
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Intratumoral injection of <i>Clostridium novyi</i> -NT spores induces antitumor responses Bằng Nicholas J. Roberts, Linping Zhang, Filip Janků, Amanda Collins, Ren-Yuan Bai, Verena Staedtke, Anthony Rusk, David Tung, Maria Miller, Jeffrey J. Roix, Kristen V. Khanna, Ravi Murthy, Robert S. Benjamin, Thorunn Helgason, Ariel D. Szvalb, Justin E. Bird, Sinchita Roy‐Chowdhuri, Halle H. Zhang, Yuan Qiao, Baktiar Karim, Jennifer S. McDaniel, Amanda Elpiner, Alexandra Sahora, Joshua L. Lachowicz, Brenda Phillips, Avenelle I. Turner, Mary K. Klein, Gerald Post, Luis A. Díaz, Gregory J. Riggins, Nickolas Papadopoulos, Kenneth W. Kinzler, Bert Vogelstein, Chetan Bettegowda, David L. Huso, Mary Varterasian, Saurabh Saha, Shibin Zhou
Được phát hành 2014Artigo -
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Comparative <i>PRKAR1A</i> genotype–phenotype analyses in humans with Carney complex and <i>prkar1a</i> haploinsufficient mice Bằng Mark Veugelers, David Wilkes, Kimberly A. Burton, Deborah A. McDermott, Yan Song, Marsha M. Goldstein, Krista La Perle, Carl J. Vaughan, A.H. O'Hagan, Kenneth R. Bennett, Beat J. Meyer, Eric Legius, Mervi Karttunen, Reijo Norio, Helena Kääriäinen, Michael H. Lavyne, Jean-Philippe Neau, Gert Richter, Kaan Kırali, Alan Farnsworth, Karen Stapleton, P Morelli, Yoshinori Takanashi, J. Steven Bamforth, Franz Eitelberger, Irene Noszian, Waldimiro Manfroi, James C. Powers, Yoshihiko Mochizuki, Tsuneo Imai, Gary Ko, Deborah A. Driscoll, Elizabeth Goldmuntz, Jay M. Edelberg, Amanda Collins, Diana Eccles, Alan D. Irvine, G. Stanley McKnight, Craig T. Basson
Được phát hành 2004Artigo -
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How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum Bằng Siddharth Banka, Ratna Veeramachaneni, William Reardon, Emma Howard, Sancha Bunstone, Nicola Ragge, Michael Parker, Yanick J. Crow, Bronwyn Kerr, Helen Kingston, Kay Metcalfe, Kate Chandler, Alex Magee, Fiona Stewart, Vivienne McConnell, Deirdre E. Donnelly, Siren Berland, Gunnar Houge, Jenny E.V. Morton, Christine Oley, Nicole Revençu, Soo-Mi Park, Sally Davies, Andrew E. Fry, Sally Ann Lynch, Harinder Gill, Susann Schweiger, Wayne Lam, John Tolmie, Shehla Mohammed, Emma Hobson, Audrey Smith, Moira Blyth, Christopher Bennett, Pradeep Vasudevan, Sixto García‐Miñaúr, Alex Henderson, Judith Goodship, Michael Wright, Richard Fisher, Richard J. Gibbons, Susan Price, Deepthi C. de Silva, I. Karen Temple, Amanda Collins, Katherine Lachlan, Frances Elmslie, Meriel McEntagart, Bruce Castle, Jill Clayton‐Smith, Graeme Black, Dian Donnai
Được phát hành 2011Artigo -
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Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes Bằng Heather C. Mefford, Andrew J. Sharp, Carl Baker, Andy Itsara, Zhaoshi Jiang, Karen Buysse, Shuwen Huang, Viv Maloney, John A. Crolla, Diana Baralle, Amanda Collins, Catherine Mercer, Koen Norga, Thomy de Ravel, Koenraad Devriendt, Ernie M.H.F. Bongers, Nicole de Leeuw, William Reardon, Stefania Gimelli, Frédérique Béna, Raoul C. M. Hennekam, Alison Male, Lorraine Gaunt, Jill Clayton‐Smith, Ingrid Simonic, Soo Mi Park, Sarju Mehta, Serena Nik‐Zainal, C. Geoffrey Woods, Helen V. Firth, Georgina Parkin, Marco Fichera, S Reitano, Mariangela Lo Giudice, Kelly E. Li, Iris Casuga, Adam Broomer, Bernard Conrad, Markus Schwerzmann, Lorenz Räber, Sabina Gallati, Pasquale Striano, Antonietta Coppola, John Tolmie, Edward S. Tobias, Chris J. Lilley, Lluı́s Armengol, Yves Spysschaert, Patrick Verloo, Anja De Coene, Linde Goossens, Geert Mortier, Frank Speleman, Ellen van Binsbergen, Marcel Nelen, Ron Hochstenbach, Martin Poot, Louise Gallagher, Michael Gill, Jon McClellan, Mary‐Claire King, Regina Regan, Cindy Skinner, Roger E. Stevenson, Stylianos E. Antonarakis, Caifu Chen, Xavier Estivill, Björn Menten, Giorgio Gimelli, Susan Gribble, Stuart Schwartz, James S. Sutcliffe, Tom Walsh, Samantha J.L. Knight, Jonathan Sebat, Corrado Romano, Charles E. Schwartz, Joris A. Veltman, Bert B.A. de Vries, Joris Vermeesch, John Barber, Lionel Willatt, May Tassabehji, Evan E. Eichler
Được phát hành 2008Artigo -
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Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients Bằng 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
Được phát hành 2013Artigo -
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Prevalence, phenotype and architecture of developmental disorders caused by <i>de novo</i> mutation: The Deciphering Developmental Disorders Study Bằng 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
Được phát hành 2016Pré-impressão -
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Not all <i>SCN1A</i> epileptic encephalopathies are Dravet syndrome Bằng 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
Được phát hành 2017Artigo -
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Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders Bằng 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
Được phát hành 2017Artigo -
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Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia Bằng Kathleen M. Gorman, Esther Meyer, Detelina Grozeva, Egidio Spinelli, Amy McTague, Alba Sanchis‐Juan, Keren Carss, Emily Bryant, Adi Reich, Amy L. Schneider, Ronit Pressler, Michael A. Simpson, Geoff Debelle, Evangeline Wassmer, Jenny Morton, Diana Sieciechowicz, Eric Jan-Kamsteeg, Alex R. Paciorkowski, Mary D. King, J. Helen Cross, Annapurna Poduri, Heather C. Mefford, Ingrid E. Scheffer, Tobias B. Haack, Gary McCullagh, J Gordon Millichap, Gemma L. Carvill, Jill Clayton‐Smith, Eamonn R. Maher, F. Lucy Raymond, Manju A. Kurian, 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
Được phát hành 2019Artigo
Công cụ tìm kiếm:
Các môn học liên quan
Biology
Genetics
Gene
Medicine
Phenotype
Mutation
Internal medicine
Genotype
Missense mutation
Psychiatry
Chromosome
Epigenetics
Genome-wide association study
Haploinsufficiency
Pathology
Single-nucleotide polymorphism
Cancer research
Computational biology
Disease
Epilepsy
Exome sequencing
Gene expression
Genetic heterogeneity
Intellectual disability
Loss function
Microdeletion syndrome
Neuroscience
Pediatrics
Psychology
Schizophrenia (object-oriented programming)