Výsledky vyhledávání - Mark C. Hannibal

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  1. 1
    <i>De novo</i>dominant<i>ASXL3</i>mutations alter H2A deubiquitination and transcription in Bainbridge–Ropers syndrome

    <i>De novo</i>dominant<i>ASXL3</i>mutations alter H2A deubiquitination and transcription in Bainbridge–Ropers syndrome Autor Anshika Srivastava, K.C. Ritesh, Yao-Chang Tsan, Rosy Liao, Fengyun Su, Xuhong Cao, Mark C. Hannibal, Catherine E. Keegan, Arul M. Chinnaiyan, Donna M. Martin, Stephanie Bielas

    Vydáno 2015
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  2. 2
    Connexin 43 (GJA1) Mutations Cause the Pleiotropic Phenotype of Oculodentodigital Dysplasia

    Connexin 43 (GJA1) Mutations Cause the Pleiotropic Phenotype of Oculodentodigital Dysplasia Autor William A. Paznekas, Simeon A. Boyadjiev, Robert E. Shapiro, Otto Daniëls, Bernd Wollnik, Catherine E. Keegan, Jeffrey W. Innis, Mary Beth Dinulos, Cathy Christian, Mark C. Hannibal, Ethylin Wang Jabs

    Vydáno 2003
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  3. 3
    <i>SEPT9</i> gene sequencing analysis reveals recurrent mutations in hereditary neuralgic amyotrophy

    <i>SEPT9</i> gene sequencing analysis reveals recurrent mutations in hereditary neuralgic amyotrophy Autor Mark C. Hannibal, Elizabeth K. Ruzzo, Lauren Miller, Benjamin G Betz, Jillian G. Buchan, Dana Knutzen, K. Barnett, Megan Landsverk, Alexis Brice, Eric LeGuern, H. Melanie Bedford, Bradford B. Worrall, S. Lovitt, Stanley H. Appel, E. Andermann, Thomas D. Bird, P. F. Chance

    Vydáno 2009
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  4. 4
    TGFBR2 mutations alter smooth muscle cell phenotype and predispose to thoracic aortic aneurysms and dissections

    TGFBR2 mutations alter smooth muscle cell phenotype and predispose to thoracic aortic aneurysms and dissections Autor Sakiko Inamoto, Callie Kwartler, Andrea L. Lafont, Yao Liang, Van Tran Fadulu, Senthil Duraisamy, Marcia Willing, Anthony L. Estrera, Hazim J. Safi, Mark C. Hannibal, John C. Carey, John E. Wiktorowicz, Filemon K. Tan, Xin‐Hua Feng, Hariyadarshi Pannu, Dianna M. Milewicz

    Vydáno 2010
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  5. 5
    TBX5 Genetic Testing Validates Strict Clinical Criteria for Holt-Oram Syndrome

    TBX5 Genetic Testing Validates Strict Clinical Criteria for Holt-Oram Syndrome Autor Deborah A. McDermott, Michael Bressan, Jié He, Joseph S. Lee, Salim Aftimos, Martina Brueckner, Fiona J. Gilbert, Gail E. Graham, Mark C. Hannibal, Jeffrey W. Innis, Mary Ella Pierpont, Annick Raas‐Rothschild, Alan Shanske, Wendy E. Smith, Robert H. Spencer, Martin G. St. John-Sutton, Lionel Van Maldergem, Darrel Waggoner, Matthew P. Weber, Craig T. Basson

    Vydáno 2005
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  6. 6
    Molecular consequences of dominant Bethlem myopathy collagen VI mutations

    Molecular consequences of dominant Bethlem myopathy collagen VI mutations Autor Naomi L. Baker, Matthias Mörgelin, Rishika A. Pace, Rachel A. Peat, Naomi E. Adams, R. J. McKinlay Gardner, Lewis P. Rowland, Geoffrey Miller, Peter De Jonghe, Berten Ceulemans, Mark C. Hannibal, Matthew Edwards, Elizabeth M. Thompson, Richard D. Jacobson, Rosaline C. M. Quinlivan, Salim Aftimos, Andrew J. Kornberg, Kathryn N. North, John F. Bateman, Shireen R. Lamandé

    Vydáno 2007
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  7. 7
    Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

    Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome Autor Sarah Ng, Abigail W. Bigham, Kati J. Buckingham, Mark C. Hannibal, Margaret J. McMillin, Heidi Gildersleeve, Anita Beck, Holly K. Tabor, Gregory M. Cooper, Heather C Mefford, Choli Lee, Emily H. Turner, Joshua D. Smith, Mark J. Rieder, Koh-ichiro Yoshiura, Naomichi Matsumoto, Tohru Ohta, Norio Niikawa, Deborah A. Nickerson, Michael J. Bamshad, Jay Shendure

    Vydáno 2010
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  8. 8
    Phenotype of CM-AVM2 caused by variants in EPHB4: how much overlap with hereditary hemorrhagic telangiectasia (HHT)?

    Phenotype of CM-AVM2 caused by variants in EPHB4: how much overlap with hereditary hemorrhagic telangiectasia (HHT)? Autor Whitney Wooderchak‐Donahue, Gülsen Akay, Kevin J. Whitehead, Eric Briggs, David A. Stevenson, Brendan O’Fallon, Matthew Velinder, Andrew Farrell, Wei Shen, Emma Bedoukian, Cara M. Skrabann, Richard J. Antaya, Kate Henderson, Jeffrey Pollak, James R. Treat, Ronald W. Day, Joseph E. Jacher, Mark C. Hannibal, Kelly Bontempo, Gábor Marth, Pınar Bayrak‐Toydemir, Jamie McDonald

    Vydáno 2019
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  9. 9
    A Germline Mutation in the C2 Domain of PLCγ2 Associated with Gain-of-Function Expands the Phenotype for PLCG2-Related Diseases

    A Germline Mutation in the C2 Domain of PLCγ2 Associated with Gain-of-Function Expands the Phenotype for PLCG2-Related Diseases Autor Taylor Novice, Amina Kariminia, Kate L. Del Bel, Henry Y. Lu, Mehul Sharma, Chinten James Lim, Jay A. Read, Mark Vander Lugt, Mark C. Hannibal, David N. O’Dwyer, Mirie Hosler, Thomas Scharnitz, Jason M. Rizzo, Jennifer L. Zacur, John J. Priatel, Sayeh Abdossamadi, Alexandra Böhm, Anne Junker, Stuart E. Turvey, Kirk R. Schultz, Jacob Rozmus

    Vydáno 2019
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  10. 10
    Further clinical and molecular delineation of the 15q24 microdeletion syndrome

    Further clinical and molecular delineation of the 15q24 microdeletion syndrome Autor Heather C. Mefford, Jill A. Rosenfeld, Natasha Shur, Anne Slavotinek, Victoria Cox, Raoul C. M. Hennekam, Helen V. Firth, Lionel Willatt, Patricia G. Wheeler, Eric M. Morrow, Joseph Cook, Rachel Sullivan, Albert K. Oh, Marie McDonald, Jonathan Zonana, Kory Keller, Mark C. Hannibal, Susie Ball, Jennifer Kussmann, Jerome L. Gorski, Susan Zelewski, Valerie Banks, Wendy E. Smith, Rosemarie Smith, Lindsay Paull, Kenneth N. Rosenbaum, David J. Amor, João Silva, Allen N. Lamb, Evan E. Eichler

    Vydáno 2011
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  11. 11
    De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome

    De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome Autor Sandra Jansen, Sinje Geuer, Rolph Pfundt, Rachel Brough, Priyanka Ghongane, Johanna C. Herkert, Elysa J. Marco, Marjolein H. Willemsen, Tjitske Kleefstra, Mark C. Hannibal, Joseph T.C. Shieh, Sally Ann Lynch, Frances Flinter, David Fitzpatrick, Alice Gardham, Birgitta Bernhard, Nicola Ragge, Ruth Newbury‐Ecob, Raphael Bernier, Malin Kvarnung, Elin Magnusson, Marja W. Wessels, Marjon A. van Slegtenhorst, Kristin G. Monaghan, Petra de Vries, Joris A. Veltman, Christopher J. Lord, Lisenka E.L.M. Vissers, Bert B.A. de Vries

    Vydáno 2017
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  12. 12
    Investigation of<i>NRXN1</i>deletions: Clinical and molecular characterization

    Investigation of<i>NRXN1</i>deletions: Clinical and molecular characterization Autor Mindy Preston Dabell, Jill A. Rosenfeld, Patricia I. Bader, Luis Escobar, Dima El‐Khechen, Stephanie E. Vallee, Mary Beth Dinulos, Cynthia J. Curry, Jamie Fisher, Raymond C. Tervo, Mark C. Hannibal, Kiana Siefkas, Philip Wyatt, Lauren S. Hughes, Rosemarie Smith, Sara Ellingwood, Yves Lacassie, Tracy Stroud, Sandra A. Farrell, Pedro A. Sanchez‐Lara, Linda M. Randolph, Dmitriy Niyazov, Cathy A. Stevens, Cheri Schoonveld, David Skidmore, Sara MacKay, Judith H. Miles, Manikum Moodley, Adam Huillet, Nicholas J. Neill, Jay W. Ellison, Blake C. Ballif, Lisa G. Shaffer

    Vydáno 2013
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  13. 13
    Spectrum of <i>MLL2</i> (<i>ALR</i>) mutations in 110 cases of Kabuki syndrome

    Spectrum of <i>MLL2</i> (<i>ALR</i>) mutations in 110 cases of Kabuki syndrome Autor Mark C. Hannibal, Kati J. Buckingham, Sarah Ng, Jeffrey E. Ming, Anita Beck, Margaret J. McMillin, Heidi Gildersleeve, Abigail W. Bigham, Holly K. Tabor, Heather C. Mefford, Joseph Cook, Koh‐ichiro Yoshiura, Tadashi Matsumoto, Naomichi Matsumoto, Noriko Miyake, Hidefumi Tonoki, Kenji Naritomi, Tadashi Kaname, Toshiro Nagai, Hirofumi Ohashi, Kenji Kurosawa, Jia‐Woei Hou, Tohru Ohta, Deshung Liang, Akira Sudo, Colleen A. Morris, Siddharth Banka, Graeme Black, Jill Clayton‐Smith, Deborah A. Nickerson, Elaine H. Zackai, Tamim H. Shaikh, Dian Donnai, Norio Niikawa, Jay Shendure, Michael J. Bamshad

    Vydáno 2011
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  14. 14
    Spectrum of K<sub>V</sub>2.1 Dysfunction in <i>KCNB1</i>‐Associated Neurodevelopmental Disorders

    Spectrum of K<sub>V</sub>2.1 Dysfunction in <i>KCNB1</i>‐Associated Neurodevelopmental Disorders Autor Seok Kyu Kang, Carlos G. Vanoye, Sunita N. Misra, Dennis M. Echevarria-Cooper, Jeffrey D. Calhoun, John B. O’Connor, Katarina L. Fabre, Dianalee McKnight, Laurie Demmer, Paula Goldenberg, Lauren Grote, Isabelle Thiffault, Carol Saunders, Kevin A. Strauss, Ali Torkamani, Jasper van der Smagt, Koen L.I. van Gassen, Robert P. Carson, Jullianne Diaz, Eyby Leon, Joseph E. Jacher, Mark C. Hannibal, Jessica Litwin, Neil Friedman, Allison Schreiber, Bryan Lynch, Annapurna Poduri, Eric D. Marsh, Ethan M. Goldberg, J Gordon Millichap, Alfred L. George, Jennifer A. Kearney

    Vydáno 2019
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  15. 15
    Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen

    Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen Autor U. Schwarze, Tim Cundy, Shawna M. Pyott, H. E. Christiansen, Madhuri Hegde, Ruud A. Bank, Gerard Pals, Arunkanth Ankala, Karen N. Conneely, Laurie Seaver, Suzanne M. Yandow, Ellen M. Raney, Dusica Babovic‐Vuksanovic, Joan M. Stoler, Ziva Ben‐Neriah, Reeval Segel, Sari Lieberman, Liesbeth Siderius, Aida I. Al‐Aqeel, Mark C. Hannibal, Lucas Hudgins, Elizabeth McPherson, Michele Clemens, Michael D. Sussman, Robert D. Steiner, John D. Mahan, Rosemarie Smith, Kwame Anyane‐Yeboa, Julia Wynn, Karen Chong, Tami Uster, Salim Aftimos, V. Reid Sutton, Elise Davis, In S. Kim, Mary Ann Weis, David R. Eyre, Peter H. Byers

    Vydáno 2012
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  16. 16
    Molecular and Clinical Analyses of Greig Cephalopolysyndactyly and Pallister-Hall Syndromes: Robust Phenotype Prediction from the Type and Position of GLI3 Mutations

    Molecular and Clinical Analyses of Greig Cephalopolysyndactyly and Pallister-Hall Syndromes: Robust Phenotype Prediction from the Type and Position of GLI3 Mutations Autor Jennifer J. Johnston, Isabelle Olivos‐Glander, Christina Killoran, Emma Elson, Joyce Turner, Kathryn F. Peters, Margaret H. Abbott, David J. Aughton, Arthur S. Aylsworth, Michael J. Bamshad, Carol Booth, Cynthia J. Curry, Albert David, Mary Beth Dinulos, David B. Flannery, Michelle Fox, John M. Graham, Dorothy K. Grange, Alan E. Guttmacher, Mark C. Hannibal, Wolfram Henn, RaoulC.M. Hennekam, Lewis B. Holmes, H. Eugene Hoyme, Kathleen A. Leppig, Angela E. Lin, Patrick MacLeod, David K. Manchester, Carlo Marcelis, Laura Mazzanti, Emma McCann, Marie McDonald, Nancy J. Mendelsohn, John B. Moeschler, Billur Moghaddam, Giovanni Neri, Ruth Newbury‐Ecob, Roberta A Pagon, John A. Phillips, Laurie S. Sadler, Joan M. Stoler, David Tilstra, Catherine M. Walsh Vockley, Elaine H. Zackai, Touran M. Zadeh, Louise Brueton, Graeme Black, Leslie G. Biesecker

    Vydáno 2005
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