Hakutulokset - Stephen R. Braddock

  • Näytetään 1 - 17 yhteensä 17 tuloksesta
Tarkenna hakua
  1. 1
    Cohen Syndrome: Review of the Literature

    Cohen Syndrome: Review of the Literature Tekijä Jonathan M. Rodrigues, Hermina Fernandes, Carrie Caruthers, Stephen R. Braddock, Alan P. Knutsen

    Julkaistu 2018
    Hae kokoteksti Hae kokoteksti
    Revisão
    Lisää suosikkeihin
    Tallennettuna:
  2. 2
    Health Supervision for Children With Marfan Syndrome

    Health Supervision for Children With Marfan Syndrome Tekijä Brad T. Tinkle, Howard M. Saal, Robert A. Saul, Stephen R. Braddock, Emily Chen, Debra Freedenberg, Marilyn C. Jones, James M. Perrin, Beth A. Tarini

    Julkaistu 2013
    Hae kokoteksti
    Revisão
    Lisää suosikkeihin
    Tallennettuna:
  3. 3
    De novo variants in Myelin regulatory factor (MYRF) as candidates of a new syndrome of cardiac and urogenital anomalies

    De novo variants in Myelin regulatory factor (MYRF) as candidates of a new syndrome of cardiac and urogenital anomalies Tekijä Hailey Pinz, Louise C. Pyle, Dong Li, Kosuke Izumi, Cara Skraban, Jennifer Tarpinian, Stephen R. Braddock, Aida Telegrafi, Kristin G. Monaghan, Elaine H. Zackai, Elizabeth Bhoj

    Julkaistu 2018
    Hae kokoteksti
    Artigo
    Lisää suosikkeihin
    Tallennettuna:
  4. 4
    Birth outcomes in women who have taken leflunomide during pregnancy

    Birth outcomes in women who have taken leflunomide during pregnancy Tekijä Christina Chambers, Diana L. Johnson, Luther K. Robinson, Stephen R. Braddock, Ronghui Xu, Janina Lopez-Jimenez, Nicole Mirrasoul, Elizabeth Salas, Yunjun Luo, Shelia Jin, Kenneth Lyons Jones

    Julkaistu 2010
    Hae kokoteksti
    Artigo
    Lisää suosikkeihin
    Tallennettuna:
  5. 5
    Birth outcomes in women who have taken adalimumab in pregnancy: A prospective cohort study

    Birth outcomes in women who have taken adalimumab in pregnancy: A prospective cohort study Tekijä Christina Chambers, Diana L. Johnson, Ronghui Xu, Yunjun Luo, Janina Lopez-Jimenez, Margaret P Adam, Stephen R. Braddock, Luther K. Robinson, Keith K. Vaux, Kenneth Lyons Jones

    Julkaistu 2019
    Hae kokoteksti Hae kokoteksti
    Artigo
    Lisää suosikkeihin
    Tallennettuna:
  6. 6
    Kilquist syndrome: A novel syndromic hearing loss disorder caused by homozygous deletion of<i>SLC12A2</i>

    Kilquist syndrome: A novel syndromic hearing loss disorder caused by homozygous deletion of<i>SLC12A2</i> Tekijä Ellen F. Macnamara, Alanna E. Koehler, Precilla D’Souza, Tyra Estwick, Paul Lee, Gilbert Vézina, Harper B Fauni, Stephen R. Braddock, Erin Torti, James Holt, Prashant Sharma, May Christine V. Malicdan, Cynthia J. Tifft

    Julkaistu 2019
    Hae kokoteksti
    Artigo
    Lisää suosikkeihin
    Tallennettuna:
  7. 7
    Health Care Supervision for Children With Williams Syndrome

    Health Care Supervision for Children With Williams Syndrome Tekijä Colleen A. Morris, Stephen R. Braddock, Emily Chen, Tracy L. Trotter, Susan A. Berry, Leah W. Burke, Timothy A. Geleske, Rizwan Hamid, Robert J. Hopkin, Wendy J. Introne, Michael J. Lyons, Angela E. Scheuerle, Joan M. Stoler

    Julkaistu 2020
    Hae kokoteksti
    Revisão
    Lisää suosikkeihin
    Tallennettuna:
  8. 8
    Further delineation of the phenotype associated with heterozygous mutations in <i>ZFHX1B</i>

    Further delineation of the phenotype associated with heterozygous mutations in <i>ZFHX1B</i> Tekijä Meredith Wilson, David Mowat, Florence Dastot‐Le Moal, Valère Cacheux, Helena Kääriäinen, Danny Cass, Dian Donnai, Jill Clayton‐Smith, Sharron Townshend, Cynthia J. Curry, Michael Gattas, Stephen R. Braddock, Bronwyn Kerr, Salim Aftimos, Harry Zehnwirth, Catherine Barrey, Michel Goossens

    Julkaistu 2003
    Hae kokoteksti Hae kokoteksti
    Artigo
    Lisää suosikkeihin
    Tallennettuna:
  9. 9
    Disruption of Neurexin 1 Associated with Autism Spectrum Disorder

    Disruption of Neurexin 1 Associated with Autism Spectrum Disorder Tekijä Hyung‐Goo Kim, Shotaro Kishikawa, Anne W. Higgins, Ihn-Sik Seong, Diana Donovan, Yiping Shen, Eric Lally, Lauren A. Weiss, Juliane Najm, Kerstin Kutsche, Maria Descartes, Lynn Holt, Stephen R. Braddock, Robin Troxell, Lee M. Kaplan, Fred R. Volkmar, Ami Klin, Katherine Tsatsanis, D. James Harris, Ilse Noens, David L. Pauls, Mark J. Daly, Marcy E. MacDonald, Cynthia C. Morton, Bradley J. Quade, James F. Gusella

    Julkaistu 2008
    Hae kokoteksti
    Artigo
    Lisää suosikkeihin
    Tallennettuna:
  10. 10
    Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies

    Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies Tekijä Marcello Niceta, Emilia Stellacci, Karen W. Gripp, Giuseppe Zampino, Maria Kousi, Massimiliano Anselmi, Alice Traversa, Andrea Ciolfi, Deborah L. Stabley, Alessandro Bruselles, Viviana Caputo, Serena Cecchetti, Sabrina Prudente, Maria Teresa Fiorenza, Carla Boitani, Nicole Philip, Dmitriy Niyazov, Chiara Leoni, Takaya Nakane, Kim M. Keppler‐Noreuil, Stephen R. Braddock, Gabriele Gillessen‐Kaesbach, Antonio Palleschi, Philippe M. Campeau, Brendan Lee, Célio Pouponnot, Lorenzo Stella, Gianfranco Bocchinfuso, Nicholas Katsanis, Katia Sol‐Church, Marco Tartaglia

    Julkaistu 2015
    Hae kokoteksti Hae kokoteksti
    Artigo
    Lisää suosikkeihin
    Tallennettuna:
  11. 11
    Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis

    Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis Tekijä James T. Bennett, Tiong Yang Tan, Diana Alcantara, Martine Tétrault, Andrew E. Timms, Dana M. Jensen, Sarah Collins, Małgorzata J.M. Nowaczyk, Marjorie J. Lindhurst, Katherine Christensen, Stephen R. Braddock, Heather A. Brandling‐Bennett, Raoul C. M. Hennekam, Brian Hon‐Yin Chung, Anna Lehman, John Su, SuYuen Ng, David J. Amor, Jacek Majewski, Les Biesecker, Kym M. Boycott, William B. Dobyns, Mark O’Driscoll, Ute Moog, Laura M. McDonell

    Julkaistu 2016
    Hae kokoteksti Hae kokoteksti
    Artigo
    Lisää suosikkeihin
    Tallennettuna:
  12. 12
    Clinical characterization of Collagen <scp>XII</scp>‐related disease caused by biallelic <i>COL12A1</i> variants

    Clinical characterization of Collagen <scp>XII</scp>‐related disease caused by biallelic <i>COL12A1</i> variants Tekijä Riley M. McCarty, Dimah Saade, Pinki Munot, Chamindra G. Laverty, Hailey Pinz, Yaqun Zou, Meghan McAnally, Pomi Yun, Cuixia Tian, Ying Hu, Lucy Feng, Rahul Phadke, Sophia Ceulemans, Pilar Magoulas, Andrew J. Skalsky, Jennifer Friedman, Stephen R. Braddock, Sarah Neuhaus, Denise Malicki, Matthew N. Bainbridge, Shareef Nahas, David Dimmock, Stephen F. Kingsmore, Timothy Lotze, A. Reghan Foley, Francesco Muntoni, Volker Straub, Sandra Donkervoort, Carsten G. Bönnemann

    Julkaistu 2025
    Hae kokoteksti
    Artigo
    Lisää suosikkeihin
    Tallennettuna:
  13. 13
    Genotypic and phenotypic analysis of 396 individuals with mutations in<i>Sonic Hedgehog</i>

    Genotypic and phenotypic analysis of 396 individuals with mutations in<i>Sonic Hedgehog</i> Tekijä Benjamin D. Solomon, Kelly Bear, Adrian Wyllie, Amelia A. Keaton, Christèle Dubourg, Véronique David, Sandra Mercier, Sylvie Odent, Ute Hehr, Aimée Paulussen, Nancy J. Clegg, Mauricio R. Delgado, Sherri J. Bale, Felicitas Lacbawan, Holly H Ardinger, Arthur S. Aylsworth, Ntombenhle Louisa Bhengu, Stephen R. Braddock, Karen Brookhyser, Barbara K. Burton, Harald Gaspar, Art Grix, Dafne Dain Gandelman Horovitz, Erin Kanetzke, Hülya Kayserili, Dorit Lev, Sarah M. Nikkel, Mary E. Norton, Richard M. Roberts, Howard M. Saal, G. Bradley Schaefer, Adele Schneider, E. Smith, Ellen Sowry, M. Anne Spence, Stavit A. Shalev, Carlos Eduardo Steiner, Elizabeth M. Thompson, Thomas Winder, Joan Z. Balog, Donald W. Hadley, Nan Zhou, Daniel Pineda‐Alvarez, Erich Roessler, Maximilian Muenke

    Julkaistu 2012
    Hae kokoteksti
    Artigo
    Lisää suosikkeihin
    Tallennettuna:
  14. 14
    Redefining the Etiologic Landscape of Cerebellar Malformations

    Redefining the Etiologic Landscape of Cerebellar Malformations Tekijä Kimberly A. Aldinger, Andrew E. Timms, Zachary Thomson, Ghayda Mirzaa, James T. Bennett, Alexander Rosenberg, Charles M. Roco, Matthew Hirano, Fatima Abidi, Parthiv Haldipur, Chi Vicky Cheng, Sarah Collins, Kaylee Park, Jordan Zeiger, Lynne M. Overmann, Fowzan S. Alkuraya, Leslie G. Biesecker, Stephen R. Braddock, Sara Cathey, Megan T. Cho, Brian Hon‐Yin Chung, David B. Everman, Yuri A. Zárate, Julie R. Jones, Charles E. Schwartz, Amy Goldstein, Robert J. Hopkin, Ian D. Krantz, Roger L. Ladda, Kathleen A. Leppig, Barbara McGillivray, Susan L. Sell, Katherine Wusik, Joseph G. Gleeson, Deborah A. Nickerson, Michael J. Bamshad, Dianne Gerrelli, Steven Lisgo, Georg Seelig, Gisele E. Ishak, A. James Barkovich, Cynthia J. Curry, Ian Glass, Kathleen J. Millen, Dan Doherty, William B. Dobyns

    Julkaistu 2019
    Hae kokoteksti Hae kokoteksti
    Artigo
    Lisää suosikkeihin
    Tallennettuna:
  15. 15
    Genotype-Phenotype Analysis in Congenital Adrenal Hyperplasia due to P450 Oxidoreductase Deficiency

    Genotype-Phenotype Analysis in Congenital Adrenal Hyperplasia due to P450 Oxidoreductase Deficiency Tekijä Nils Krone, Nicole Reisch, Jan Idkowiak, Vivek Dhir, Hannah E Ivison, Beverly Hughes, Ian T. Rose, Donna O’Neil, Raymon Vijzelaar, Matthew J. Smith, Fiona MacDonald, Trevor Cole, Nicolai Adolphs, John Barton, Edward Blair, Stephen R. Braddock, Felicity Collins, Deborah Cragun, Mehul Dattani, Ruth Day, Shelley Dougan, Miriam Feist, Michael Gottschalk, John W. Gregory, Michaela Haim, Rachel Harrison, Ann Haskins Olney, Berthold P. Hauffa, Peter C. Hindmarsh, Robert J. Hopkin, Petr Jira, Marlies Kempers, Michiel N. Kerstens, Mohamed M. Khalifa, Birgit Köhler, Dominique Maiter, Shelly Nielsen, Stephen O’Riordan, Christian Roth, Kate Shane-Carson, Martin Silink, Nike Stikkelbroeck, Elizabeth Sweeney, Maria Szarras‐Czapnik, John Waterson, Lori Williamson, Michaela F. Hartmann, Norman Taylor, Stefan A. Wudy, E Małunowicz, Cedric Shackleton, Wiebke Arlt

    Julkaistu 2011
    Hae kokoteksti Hae kokoteksti
    Artigo
    Lisää suosikkeihin
    Tallennettuna:
  16. 16
    De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia

    De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia Tekijä Oguz Kanca, Jonathan C. Andrews, Pei-Tseng Lee, Chirag Patel, Stephen R. Braddock, Anne Slavotinek, Julie S. Cohen, Cynthia S. Gubbels, Kimberly A. Aldinger, Judy Williams, Maanasa Indaram, Ali Fatemi, Timothy W. Yu, Pankaj B. Agrawal, Gilbert Vézina, Cas Simons, Joanna Crawford, C. Christopher Lau, Wendy K. Chung, Thomas C. Markello, William B. Dobyns, David R. Adams, William A. Gahl, Michael F. Wangler, Shinya Yamamoto, Hugo J. Bellen, May Christine V. Malicdan, Maria T. Acosta, David R. Adams, Pankaj B. Agrawal, Mercedes E. Alejandro, Patrick Allard, Justin Alvey, Ashley Andrews, Euan A. Ashley, Mahshid S. Azamian, Carlos A. Bacino, Güney Bademci, Eva H. Baker, Ashok Balasubramanyam, Dustin Baldridge, Jim Bale, Deborah Barbouth, Gabriel F. Batzli, Pınar Bayrak‐Toydemir, Alan H. Beggs, Gill Bejerano, Hugo J. Bellen, Jonathan A. Bernstein, Gerard T. Berry, Anna Bican, David Bick, Camille L. Birch, Stephanie Bivona, John Bohnsack, Carsten Bonnenmann, Devon Bonner, Braden Boone, Bret L. Bostwick, Lorenzo D. Botto, Lauren C. Briere, Elly Brokamp, Donna M. Brown, Matthew Brush, Elizabeth A. Burke, Lindsay C. Burrage, Manish J. Butte, John C. Carey, Olveen Carrasquillo, Ta Chen Chang, Hsiao‐Tuan Chao, Gary Clark, Terra R. Coakley, Laurel A. Cobban, Joy D. Cogan, F. Sessions Cole, Heather A. Colley, Cynthia M. Cooper, Heidi Cope, William J. Craigen, Precilla D’Souza, Surendra Dasari, Mariska Davids, Jyoti G. Dayal, Esteban C. Dell’Angelica, Shweta U. Dhar, Naghmeh Dorrani, Daniel C. Dorset, Emilie D. Douine, David D. Draper, Laura Duncan, David J. Eckstein, Lisa Emrick, Christine M. Eng, Cecilia Esteves, Tyra Estwick, Liliana Fernández, Carlos R. Ferreira, Elizabeth L. Fieg, Paul G. Fisher

    Julkaistu 2019
    Hae kokoteksti Hae kokoteksti
    Artigo
    Lisää suosikkeihin
    Tallennettuna:
  17. 17
    Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria

    Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria Tekijä Shyam K. Akula, Allen Y. Chen, Jennifer E. Neil, Diane D. Shao, Alisa Mo, Norma K. Hylton, Stephanie DiTroia, Vijay Ganesh, Richard S. Smith, Katherine O’kane, Rebecca C. Yeh, Jack H. Marciano, Samantha L. Kirkham, Connor Kenny, Janet Song, Muna Al Saffar, Francisca Millan, David J. Harris, Andrea V. Murphy, Kara C. Klemp, Stephen R. Braddock, Harrison Brand, Isaac Wong, Michael E. Talkowski, Anne O’Donnell‐Luria, Abbe Lai, Robert Hill, Ganeshwaran H. Mochida, Ryan N. Doan, A. James Barkovich, Edward Yang, Dina Amrom, Eva Andermann, Annapurna Poduri, Christopher A. Walsh, Bassam Abu‐Libdeh, Lihadh Al‐Gazali, Muna Al Saffar, Edith Alva Moncayo, Dina Amrom, Eva Anderman, Anna‐Kaisa Anttonen, Saunder Barnes, Sara Barnett, Todd F. Barron, Brenda J. Barry, Lina Basel‐Vanagaite, Lailá Bastaki, Luis Bello‐Espinosa, Tawfeg Ben‐Omran, Matthew P. Bernard, Carsten Bönneman, Blaise F. D. Bourgeois, S.D.M. Brown, Roberto Caraballo, Gergory Cascino, M Clarke, Monika Cohen, Yanick J. Crow, Bernard Dan, Kira A. Dies, William B. Dobyns, François Dubeau, Christelle Moufawad El Achkar, Gregory M. Enns, Laurence Faivre, Laura Flores‐Sarnat, John Gaitanis, Kuchukhidze Giorgi, Andrew Green, A. Guberman, Renzo Guerrini, Micheil Innes, R.G. Jacobsen, Sebastian Jacquemont, Samir Khalil, Joerg Klepper, Dimitri Kranic, Kalpathy Krishnamoorthy, Anna‐Elina Lehesjoki, Dorit Lev, Richard J. Leventer, Emily C. Lisi, Valerie Loik Ramey, Sally Ann Lynch, Laila Mahmoud, David K. Manchester, David E. Mandelbaum, Daphna Marom, Deborah Marsden, Mayra Martinez Ojeda, Amira Masri, Līvija Medne, Denis Melanson, David T. Miller, Anna Minster, Edward Neilan, Dang Khoa Nguyen, Heather E. Olson, I Pascual-Castroviejo

    Julkaistu 2023
    Hae kokoteksti Hae kokoteksti
    Artigo
    Lisää suosikkeihin
    Tallennettuna:

Työkalut: