Search Results - Regina Regan

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  1. 1
    Identification of a mutation in LARS as a novel cause of infantile hepatopathy

    Identification of a mutation in LARS as a novel cause of infantile hepatopathy by Jillian P. Casey, Paul McGettigan, Niamh Lynam‐Lennon, Michael McDermott, Regina Regan, Judith Conroy, Billy Bourke, Jacintha O' Sullivan, Ellen Crushell, Sally Ann Lynch, Sean Ennis

    Published 2012
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  2. 2
    An Optimized Set of Human Telomere Clones for Studying Telomere Integrity and Architecture

    An Optimized Set of Human Telomere Clones for Studying Telomere Integrity and Architecture by Samantha J.L. Knight, Christa M. Lese, Kathrin S. Precht, Julie A. Kuc, Yi Ning, Sarah Lucas, Regina Regan, Mary Brenan, A Nicod, N. M. Lawrie, D. L. N. Cardy, Huy Nguyen, Thomas J. Hudson, Harold Riethman, David H. Ledbetter, Jonathan Flint

    Published 2000
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  3. 3
    First implication of<i>STRA6</i>mutations in isolated anophthalmia, microphthalmia, and coloboma: A new dimension to the<i>STRA6</i>phenotype

    First implication of<i>STRA6</i>mutations in isolated anophthalmia, microphthalmia, and coloboma: A new dimension to the<i>STRA6</i>phenotype by Jillian P. Casey, Riki Kawaguchi, Maria E. Morrissey, Hui Sun, Paul McGettigan, Jens Erik Nielsen, Judith Conroy, Regina Regan, Elaine Kenny, Paul Cormican, Derek W. Morris, Peter Tormey, Muireann Ní Chróinín, Breandán N. Kennedy, Sally Ann Lynch, Andrew Green, Sean Ennis

    Published 2011
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  4. 4
    Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant

    Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant by Femke Hannes, Andrew J. Sharp, Heather C. Mefford, Thomy de Ravel, Claudia Ruivenkamp, M.H. Breuning, JP Fryns, Koenraad Devriendt, Griet Van Buggenhout, Annick Vogels, Helen Stewart, Raoul C. M. Hennekam, Gregory M. Cooper, Regina Regan, Samantha J.L. Knight, Evan E. Eichler, Joris Vermeesch

    Published 2008
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  5. 5
    Characterization of a recurrent 15q24 microdeletion syndrome

    Characterization of a recurrent 15q24 microdeletion syndrome by Andrew J. Sharp, Rebecca R. Selzer, Joris A. Veltman, Stefania Gimelli, Giorgio Gimelli, Pasquale Striano, Antonietta Coppola, Regina Regan, Sue Price, Nine V.A.M. Knoers, Peggy S. Eis, Han G. Brunner, Raoul C. M. Hennekam, Samantha J.L. Knight, Bert B.A. de Vries, Orsetta Zuffardi, Evan E. Eichler

    Published 2007
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  6. 6
    A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures

    A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures by Andrew J. Sharp, Heather C. Mefford, Kelly Li, Carl Baker, Cindy Skinner, Roger E. Stevenson, Richard J. Schroer, Francesca Novara, Manuela De Gregori, Roberto Ciccone, Adam Broomer, Iris Casuga, Yu Wang, Chunlin Xiao, Cátálin Bárbácioru, Giorgio Gimelli, Bernardo Dalla Bernardina, Claudia Torniero, Roberto Giorda, Regina Regan, Victoria Murday, Sahar Mansour, Marco Fichera, Lucia Castiglia, Pinella Failla, Mario Ventura, Zhaoshi Jiang, Gregory M. Cooper, Samantha J.L. Knight, Corrado Romano, Orsetta Zuffardi, Caifu Chen, Charles E. Schwartz, Evan E. Eichler

    Published 2008
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  7. 7
    Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes

    Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes by 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

    Published 2008
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  8. 8
    A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder

    A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder by Jillian P. Casey, Tiago R. Magalhães, Judith Conroy, Regina Regan, Naisha Shah, Richard Anney, Denis C. Shields, Brett S. Abrahams, Joana Almeida, Elena Bacchelli, Anthony Bailey, Gillian Baird, Agatino Battaglia, T. P. Berney, Nadia Bolshakova, Patrick Bolton, Thomas Bourgeron, S. Brennan, Phil Cali, Catarina Correia, Christina Corsello, Marc N. Coutanche, Géraldine Dawson, Maretha Jonge, Richard Delorme, Eftichia Duketis, Frederico Duque, Annette Estes, Penny Farrar, Bridget A. Fernandez, Susan E. Folstein, S. Foley, Éric Fombonne, Christine M. Freitag, John R. Gilbert, Christopher Gillberg, Joseph Glessner, Jonathan Green, Stephen J. Guter, Hákon Hákonarson, Richard Holt, Gillian Hughes, Vanessa Hus, Roberta Igliozzi, Cecilia Kim, Sabine M. Klauck, Alexander Kolevzon, Janine A. Lamb, Marion Leboyer, Ann Le Couteur, Bennett Leventhal, Catherine Lord, Sabata C. Lund, Elena Maestrini, Carine Mantoulan, Christian R. Marshall, Helen McConachie, Christopher J. McDougle, Jane McGrath, William M. McMahon, Alison Merikangas, Judith Miller, Fiorella Minopoli, Ghazala Mirza, Jeff Munson, Stanley F. Nelson, Gudrun Nygren, Guiomar Oliveira, Alistair T. Pagnamenta, Katerina Papanikolaou, Jeremy Parr, Barbara Parrini, Andrew Pickles, Dalila Pinto, Joseph Piven, David J. Posey, Annemarie Poustka, Fritz Poustka, Jiannis Ragoussis, Bernadette Rogé, Michael Rutter, Ana Filipa Sequeira, Latha Soorya, Inês Sousa, Nuala Sykes, Vera Stoppioni, Raffaella Tancredi, M. Tauber, Ann Thompson, Susanne Thomson, John Tsiantis, Herman Van Engeland, John B. Vincent, Fred Volkmar, Jacob Vorstman, Simon Wallace, Kai Wang, Thomas H. Wassink, Kathy White, Kirsty Wing

    Published 2011
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  9. 9
    Individual common variants exert weak effects on the risk for autism spectrum disorders

    Individual common variants exert weak effects on the risk for autism spectrum disorders by Richard Anney, Lambertus Klei, Dalila Pinto, Joana Almeida, Elena Bacchelli, Gillian Baird, Nadia Bolshakova, Sven Bölte, Patrick Bolton, Thomas Bourgeron, S. Brennan, Jessica Brian, Jillian P. Casey, Judith Conroy, Catarina Correia, Christina Corsello, Emily L. Crawford, Maretha Jonge, Richard Delorme, Eftichia Duketis, Frederico Duque, Annette Estes, Penny Farrar, Bridget A. Fernandez, Susan E. Folstein, Éric Fombonne, John R. Gilbert, Christopher Gillberg, Joseph Glessner, Andrew Green, Jonathan Green, Stephen J. Guter, Elizabeth A. Heron, Richard Holt, Jennifer Howe, Gillian Hughes, Vanessa Hus, Roberta Igliozzi, Suma Jacob, Graham P. Kenny, Cecilia Kim, Alexander Kolevzon, Vlad Kustanovich, Clara Lajonchere, Janine A. Lamb, Miriam Law-Smith, Marion Leboyer, Ann Le Couteur, Bennett Leventhal, Xiaoqing Liu, Frances Lombard, Catherine Lord, Linda Lotspeich, Sabata C. Lund, Tiago R. Magalhães, Carine Mantoulan, Christopher J. McDougle, Nadine Melhem, Alison Merikangas, Nancy J. Minshew, Ghazala Mirza, Jeff Munson, Carolyn Noakes, Gudrun Nygren, Κaterina Papanikolaou, Alistair T. Pagnamenta, Barbara Parrini, Tara Paton, Andrew Pickles, David J. Posey, Fritz Poustka, Jiannis Ragoussis, Regina Regan, Wendy Roberts, Kathryn Roeder, Bernadette Rogé, Michael Rutter, Sabine Schlitt, Naisha Shah, Val C. Sheffield, Latha Soorya, Inês Sousa, Vera Stoppioni, Nuala Sykes, Raffaella Tancredi, Ann Thompson, Susanne Thomson, Ana Tryfon, John Tsiantis, Hermán van Engeland, John B. Vincent, Fred R. Volkmar, JAS Vorstman, Simon Wallace, Kirsty Wing, Kerstin Wittemeyer, Shawn Wood, Danielle Zurawiecki, Lonnie Zwaigenbaum, Anthony Bailey

    Published 2012
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  10. 10
    Functional impact of global rare copy number variation in autism spectrum disorders

    Functional impact of global rare copy number variation in autism spectrum disorders by Dalila Pinto, Alistair T. Pagnamenta, Lambertus Klei, Richard Anney, Daniele Merico, Regina Regan, Judith Conroy, Tiago R. Magalhães, Catarina Correia, Brett S. Abrahams, Joana Almeida, Elena Bacchelli, Gary D. Bader, Anthony Bailey, Gillian Baird, Agatino Battaglia, T. P. Berney, Nadia Bolshakova, Sven Bölte, Patrick Bolton, Thomas Bourgeron, S. Brennan, Jessica Brian, Susan E. Bryson, Andrew R. Carson, Guillermo Casallo, Jillian P. Casey, Brian Hon‐Yin Chung, Lynne Cochrane, Christina Corsello, Emily L. Crawford, Andrew Crossett, Cheryl Cytrynbaum, Géraldine Dawson, Maretha Jonge, Richard Delorme, Irene Drmic, Eftichia Duketis, Frederico Duque, Annette Estes, Penny Farrar, Bridget A. Fernandez, Susan E. Folstein, Éric Fombonne, Christine M. Freitag, John R. Gilbert, Christopher Gillberg, Joseph Glessner, Jeremy Goldberg, Andrew Green, Jonathan Green, Stephen J. Guter, Hákon Hákonarson, Elizabeth A. Heron, Matthew Hill, Richard Holt, Jennifer Howe, Gillian Hughes, Vanessa Hus, Roberta Igliozzi, Cecilia Kim, Sabine M. Klauck, Alexander Kolevzon, Olena Korvatska, Vlad Kustanovich, Clara Lajonchere, Janine A. Lamb, Magdalena Laskawiec, Marion Leboyer, Ann Le Couteur, Bennett Leventhal, Anath C. Lionel, Xiaoqing Liu, Catherine Lord, Linda Lotspeich, Sabata C. Lund, Elena Maestrini, William J. Mahoney, Carine Mantoulan, Christian R. Marshall, Helen McConachie, Christopher J. McDougle, Jane McGrath, William M. McMahon, Alison Merikangas, Ohsuke Migita, Nancy J. Minshew, Ghazala Mirza, Jeff Munson, Stanley F. Nelson, Carolyn Noakes, Abdul Noor, Gudrun Nygren, Guiomar Oliveira, Κaterina Papanikolaou, Jeremy Parr, Barbara Parrini, Tara Paton, Andrew Pickles, Marion Pilorge

    Published 2010
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  11. 11
    The impact of the metabotropic glutamate receptor and other gene family interaction networks on autism

    The impact of the metabotropic glutamate receptor and other gene family interaction networks on autism by Dexter Hadley, Zhi-liang Wu, Charlly Kao, Akshata Kini, Alisha Mohamed-Hadley, Kelly Thomas, Lyam Vazquez, Haijun Qiu, Frank Mentch, Renata Pellegrino, Cecilia Kim, John J. Connolly, Dalila Pinto, Alison Merikangas, Lambertus Klei, Jacob Vorstman, Ann Thompson, Regina Regan, Alistair T. Pagnamenta, Bárbara Oliveira, Tiago R. Magalhães, John R. Gilbert, Eftichia Duketis, Maretha Jonge, Michael L. Cuccaro, Catarina Correia, Judith Conroy, Inês C. Conceição, Andreas G. Chiocchetti, Jillian P. Casey, Nadia Bolshakova, Elena Bacchelli, Richard Anney, Lonnie Zwaigenbaum, Kerstin Wittemeyer, Simon Wallace, Hermán van Engeland, Latha Soorya, Bernadette Rogé, Wendy Roberts, Fritz Poustka, Susana Mouga, Nancy J. Minshew, Susan G. McGrew, Catherine Lord, Marion Leboyer, Ann S. Couteur, Alexander Kolevzon, Suma Jacob, Stephen J. Guter, Jonathan Green, Andrew Green, Christopher Gillberg, Bridget A. Fernandez, Frederico Duque, Richard Delorme, Géraldine Dawson, Cátia Café, S. Brennan, Thomas Bourgeron, Patrick Bolton, Sven Bölte, Raphael Bernier, Gillian Baird, Anthony Bailey, Evdokia Anagnostou, Joana Almeida, Ellen M. Wijsman, Veronica J. Vieland, Astrid M. Vicente, Gerard D. Schellenberg, Margaret A. Pericak‐Vance, Andrew D. Paterson, Jeremy Parr, Guiomar Oliveira, Joana Almeida, Cátia Café, Susana Mouga, Catarina Correia, John I. Nürnberger, Anthony P. Monaco, Elena Maestrini, Sabine M. Klauck, Hákon Hákonarson, Jonathan L. Haines, Daniel H. Geschwind, Christine M. Freitag, Susan E. Folstein, Sean Ennis, Hilary Coon, Agatino Battaglia, Peter Szatmari, James S. Sutcliffe, Joachim Hallmayer, Michael Gill, Edwin H. Cook, Joseph D. Buxbaum, Bernie Devlin, Louise Gallagher, Catalina Betancur

    Published 2014
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  12. 12
    A genome-wide scan for common alleles affecting risk for autism

    A genome-wide scan for common alleles affecting risk for autism by Richard Anney, Lambertus Klei, Dalila Pinto, Regina Regan, Jennifer Conroy, Tiago R. Magalhães, Catarina Correia, Brett S. Abrahams, N. Sykes, A. T. Pagnamenta, J.-P. de Almeida, Elena Bacchelli, Anthony Bailey, Gillian Baird, Agatino Battaglia, T. P. Berney, Nadia Bolshakova, Sven Bölte, P. F. Bolton, Thomas Bourgeron, S. Brennan, Jessica Brian, A. R. Carson, Guillermo Casallo, Jillian P. Casey, Su H. Chu, Lynne Cochrane, Christina Corsello, E. L. Crawford, A. Crossett, Géraldine Dawson, Maretha Jonge, Richard Delorme, Irene Drmic, Eftichia Duketis, Frederico Duque, Annette Estes, Penny Farrar, Bridget A. Fernandez, Susan E. Folstein, Éric Fombonne, Christine M. Freitag, James Gilbert, Christopher Gillberg, Joseph Glessner, Joel O. Goldberg, Jonathan Green, Stephen J. Guter, Hákon Hákonarson, Elizabeth A. Heron, Matthew Hill, Richard Holt, Jennifer Howe, Gillian Hughes, Vanessa Hus, Roberta Igliozzi, C. Kim, Sabine M. Klauck, Alexander Kolevzon, Olena Korvatska, Vlad Kustanovich, Clara Lajonchere, Janine A. Lamb, Magdalena Laskawiec, Marion Leboyer, Ann Le Couteur, Bennett Leventhal, A. C. Lionel, Xiaoqing Liu, Catherine Lord, Linda Lotspeich, Sabata C. Lund, Elena Maestrini, William J. Mahoney, Carine Mantoulan, Christian R. Marshall, Helen McConachie, Christopher J. McDougle, Jane McGrath, William M. McMahon, Nadine Melhem, Alison Merikangas, Ohsuke Migita, Nancy J. Minshew, Ghazala Mirza, Jeff Munson, Stanley F. Nelson, C. Noakes, Abdul Noor, Gudrun Nygren, Guiomar Oliveira, Κaterina Papanikolaou, Jeremy Parr, Barbara Parrini, Tara Paton, Andrew Pickles, Joseph Piven, David J. Posey, Annemarie Poustka, Fritz Poustka

    Published 2010
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  13. 13
    Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders

    Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders by Dalila Pinto, Elsa Delaby, Daniele Merico, Mafalda Barbosa, Alison Merikangas, Lambertus Klei, Bhooma Thiruvahindrapuram, Xiao Xu, Robert Ziman, Zhuozhi Wang, Jacob Vorstman, Ann Thompson, Regina Regan, Marion Pilorge, Giovanna Pellecchia, Alistair T. Pagnamenta, Bárbara Oliveira, Christian R. Marshall, Tiago R. Magalhães, Jennifer K. Lowe, Jennifer Howe, Anthony J. Griswold, John R. Gilbert, Eftichia Duketis, Beth A. Dombroski, Maretha Jonge, Michael L. Cuccaro, Emily L. Crawford, Catarina Correia, Judith Conroy, Inês C. Conceição, Andreas G. Chiocchetti, Jillian P. Casey, Guiqing Cai, Christelle Cabrol, Nadia Bolshakova, Elena Bacchelli, Richard Anney, Steven Gallinger, Michelle Cotterchio, Graham Casey, Lonnie Zwaigenbaum, Kerstin Wittemeyer, Kirsty Wing, Simon Wallace, Hermán van Engeland, Ana Tryfon, Susanne Thomson, Latha Soorya, Bernadette Rogé, Wendy Roberts, Fritz Poustka, Susana Mouga, Nancy J. Minshew, L. Alison McInnes, Susan G. McGrew, Catherine Lord, Marion Leboyer, Ann S. Couteur, Alexander Kolevzon, Patricia González, Suma Jacob, Richard Holt, Stephen J. Guter, Jonathan Green, Andrew Green, Christopher Gillberg, Bridget A. Fernandez, Frederico Duque, Richard Delorme, Géraldine Dawson, Pauline Chaste, Cátia Café, S. Brennan, Thomas Bourgeron, Patrick Bolton, Sven Bölte, Raphael Bernier, Gillian Baird, Anthony Bailey, Evdokia Anagnostou, Joana Almeida, Ellen M. Wijsman, Veronica J. Vieland, Astrid M. Vicente, Gerard D. Schellenberg, Margaret A. Pericak‐Vance, Andrew D. Paterson, Jeremy Parr, Guiomar Oliveira, John I. Nürnberger, Anthony P. Monaco, Elena Maestrini, Sabine M. Klauck, Hákon Hákonarson, Jonathan L. Haines, Daniel H. Geschwind, Christine M. Freitag, Susan E. Folstein, Sean Ennis

    Published 2014
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  14. 14
    Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia

    Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia by Richard Anney, Stephan Ripke, Verneri Anttila, Jakob Grove, Peter Holmans, Aiden Corvin, Lambertus Klei, Phil H. Lee, Sarah E. Medland, Benjamin M. Neale, Elise Robinson, Lauren A. Weiss, Lonnie Zwaigenbaum, Timothy W. Yu, Kerstin Wittemeyer, A. Jeremy Willsey, Ellen M. Wijsman, Thomas Werge, Thomas H. Wassink, Regina Waltes, Christopher A. Walsh, Simon Wallace, Jacob Vorstman, Veronica J. Vieland, Astrid M. Vicente, Herman Vanengeland, Kathryn Tsang, Ann Thompson, Peter Szatmari, Oscar Svantesson, Stacy Steinberg, Kāri Stefánsson, Hreinn Stefánsson, Matthew W. State, Latha Soorya, Teimuraz Silagadze, Stephen W. Scherer, Gerard D. Schellenberg, Sven Sandin, Stephan Sanders, Evald Sæmundsen, Guy A. Rouleau, Bernadette Rogé, Kathryn Roeder, Wendy Roberts, Jennifer Reichert, Abraham Reichenberg, Karola Rehnström, Regina Regan, Fritz Poustka, Christopher S. Poultney, Joseph Piven, Dalila Pinto, Margaret A. Pericak‐Vance, Milica Pejović-Milovančević, Marianne Giørtz Pedersen, Carsten Bøcker Pedersen, Andrew D. Paterson, Jeremy Parr, Alistair T. Pagnamenta, Guiomar Oliveira, John I. Nürnberger, Merete Nordentoft, Michael T. Murtha, Susana Mouga, Preben Bo Mortensen, Ole Mors, Eric M. Morrow, Daniel Moreno‐De‐Luca, Anthony P. Monaco, Nancy J. Minshew, Alison Merikangas, William M. McMahon, Susan G. McGrew, Jouko Lönnqvist, Igor Martsenkovsky, Donna M. Martin, Shrikant Mane, Páll Magnússon, Tiago R. Magalhães, Elena Maestrini, Jennifer K. Lowe, Catherine Lord, Pat Levitt, Christa Lese Martin, David H. Ledbetter, Marion Leboyer, Ann S. LeCouteur, Christine Ladd‐Acosta, Alexander Kolevzon, Sabine M. Klauck, Suma Jacob, Bozenna Iliadou, Christina M. Hultman, David M. Hougaard, Irva Hertz‐Picciotto, Robert L. Hendren, Christine Søholm Hansen, Jonathan L. Haines, Stephen J. Guter

    Published 2017
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