نتائج البحث - Andrea Hanson‐Kahn

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  1. 1
    Cold-aggravated pain in humans caused by a hyperactive NaV1.9 channel mutant

    Cold-aggravated pain in humans caused by a hyperactive NaV1.9 channel mutant حسب Enrico Leipold, Andrea Hanson‐Kahn, M. Suzanne Frick, Ping Gong, Jonathan A. Bernstein, Martin Voigt, István Katona, R. Oliver Goral, Janine Altmüller, Peter Nürnberg, Joachim Weis, Christian A. Hübner, Stefan H. Heinemann, Ingo Kurth

    منشور في 2015
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    Artigo
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  2. 2
    Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome

    Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome حسب Hadia Hijazi, Fernanda S. Coelho, Claudia Gonzaga‐Jauregui, Laura Bernardini, Soe Mar, Melanie A. Manning, Andrea Hanson‐Kahn, SakkuBai Naidu, Siddharth Srivastava, Jennifer A. Lee, Julie R. Jones, Michael J. Friez, Thomas Alberico, Bárbara Torres, Ping Fang, Sau Wai Cheung, Xiaofei Song, Angelique Davis‐Williams, Carly Jornlin, P.A.L. Wight, Pankaj Patyal, Jennifer R. Taube, Andrea Poretti, Ken Inoue, Feng Zhang, Davut Pehli̇van, Claudia M.B. Carvalho, Grace M. Hobson, James R. Lupski

    منشور في 2019
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    Artigo
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  3. 3
    De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features

    De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features حسب Mari Tokita, Chun‐An Chen, David Chitayat, Ellen F. Macnamara, Jill A. Rosenfeld, Neil A. Hanchard, Andrea M. Lewis, Chester Brown, Ronit Marom, Yunru Shao, Danica Novacic, Lynne A. Wolfe, Colleen E. Wahl, Cynthia J. Tifft, Camilo Toro, Jonathan A. Bernstein, Caitlin L. Hale, Julia Silver, Louanne Hudgins, Amitha Ananth, Andrea Hanson‐Kahn, Shirley Shuster, Pilar Magoulas, Vipulkumar Patel, Wenmiao Zhu, Stella M. Chen, Yanjun Jiang, Pengfei Liu, Christine M. Eng, Dominyka Batkovskyte, Alberto di Ronza, Marco Sardiello, Brendan Lee, Christian P. Schaaf, Yaping Yang, Xia Wang

    منشور في 2018
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    Artigo
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  4. 4
    MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance

    MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance حسب William B. Dobyns, Kimberly A. Aldinger, Gisele E. Ishak, Ghayda Mirzaa, Andrew E. Timms, Megan E. Grout, Marjolein H. G. Dremmen, Rachel Schot, Laura Vandervore, Marjon A. van Slegtenhorst, Martina Wilke, Esmee Kasteleijn, Arthur S. Lee, Brenda J. Barry, Katherine R. Chao, Krzysztof Szczałuba, Joyce A. Kobori, Andrea Hanson‐Kahn, Jonathan A. Bernstein, Lucinda Carr, Felice D’Arco, Kaori Miyana, Tetsuya Okazaki, Yoshiaki Saito, Masayuki Sasaki, Soma Das, Marsha M. Wheeler, Michael J. Bamshad, Deborah A. Nickerson, Elizabeth C. Engle, Frans W. Verheijen, Dan Doherty, Grazia M.S. Mancini

    منشور في 2018
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    Artigo
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  5. 5
    Clinical delineation of the <i>PACS1</i>‐related syndrome—Report on 19 patients

    Clinical delineation of the <i>PACS1</i>‐related syndrome—Report on 19 patients حسب Janneke Schuurs-Hoeijmakers, Megan Landsverk, Nicola Foulds, Mary K. Kukolich, Ralitza H. Gavrilova, Stephanie Greville‐Heygate, Andrea Hanson‐Kahn, Jonathan A. Bernstein, Jennifer Glass, David Chitayat, Thomas Andrew Burrow, Ammar Husami, Kathleen Collins, Katie Wusik, Nathalie Van der Aa, R. Frank Kooy, Kate Tatton Brown, Dorothea Gadzicki, Usha Kini, Sara Álvarez, Alberto Fernández‐Jaén, Frank T. McGehee, Katherine Selby, Maja Tarailo‐Graovac, Margot Van Allen, Clara van Karnebeek, Dimitri J. Stavropoulos, Christian R. Marshall, Daniele Merico, Anne Gregor, Christiane Zweier, Robert J. Hopkin, Yoyo W. Y. Chu, Brian Hon‐Yin Chung, Bert B.A. de Vries, Koenraad Devriendt, Matthew E. Hurles, Han G. Brunner

    منشور في 2016
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    Artigo
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  6. 6
    Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling

    Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling حسب Mustapha Amyere, Nicole Revençu, Raphaël Helaers, Eleonore Pairet, Eulàlia Baselga, Maria Cordisco, Wendy K. Chung, Josée Dubois, J.‐P. Lacour, Loreto Martorell, J. Mazereeuw‐Hautier, Reed E. Pyeritz, David J. Amor, Annouk Bisdorff, Francine Blei, Hannah Bombei, A. Dompmartin, David G. Brooks, Juliette Dupont, María Antonia González-Enseñat, Ilona J. Frieden, Marion Gérard, Malin Kvarnung, Andrea Hanson‐Kahn, Louanne Hudgins, C. Léauté‐Labrèze, Catherine McCuaïg, Denise W. Metry, P. Parent, C. Paul, Florence Petit, Alice Phan, I. Quéré, Aïcha Salhi, Anne Turner, P. Vabres, Asunción Vicente, Orli Wargon, Shôji Watanabe, Lisa Weibel, Ashley Wilson, Marcia Willing, John B. Mulliken, Laurence M. Boon, Miikka Vikkula

    منشور في 2017
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    Artigo
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  7. 7
    <i>FOXP1</i>-related intellectual disability syndrome: a recognisable entity

    <i>FOXP1</i>-related intellectual disability syndrome: a recognisable entity حسب Ilse Meerschaut, Daniel Rochefort, Nicole Revençu, Justine Pètre, Christina Corsello, Guy A. Rouleau, Fadi F. Hamdan, Jacques L. Michaud, Jenny Morton, Jessica A. Radley, Nicola Ragge, Sixto García‐Miñaúr, Pablo Lapunzina, María Palomares‐Bralo, María Ángeles Mori, Stéphanie Moortgat, Valérie Benoît, Sandrine Mary, Nele Bockaert, Ann Oostra, Olivier Vanakker, Milen Velinov, Thomy de Ravel, Djalila Mekahli, Jonathan Sebat, Keith K. Vaux, Nataliya Di Donato, Andrea Hanson‐Kahn, Louanne Hudgins, Bruno Dallapiccola, Antonio Novelli, Luigi Tarani, Joris Andrieux, Michael Parker, Katherine Neas, Berten Ceulemans, An-Sofie Schoonjans, Darina Prchalová, Markéta Havlovičová, Miroslava Hančárová, Magdalena Budişteanu, Annelies Dheedene, Björn Menten, Patrick A. Dion, Damien Lederer, Bert Callewaert

    منشور في 2017
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    Artigo
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  8. 8
    The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

    The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies حسب Claire Redin, Harrison Brand, Ryan L. Collins, Tammy Kammin, Elyse Mitchell, Jennelle C. Hodge, Carrie Hanscom, Vamsee Pillalamarri, Catarina M. Seabra, Mary‐Alice Abbott, Omar Abdul‐Rahman, Erika Aberg, Rhett Adley, Sofía Lizeth Alcaráz‐Estrada, Fowzan S. Alkuraya, Yu An, MaryAnne Anderson, Caroline Antolik, Kwame Anyane‐Yeboa, Joan Atkin, Tina M. Bartell, Jonathan A. Bernstein, Elizabeth Beyer, Ian Blumenthal, Ernie M.H.F. Bongers, Eva H. Brilstra, Chester Brown, Hennie T. Brüggenwirth, Bert Callewaert, Colby Chiang, Ken Corning, Helen Cox, Edwin Cuppen, Benjamin Currall, Tom Cushing, D. David, Matthew A. Deardorff, Annelies Dheedene, Marc D’Hooghe, Bert B.A. de Vries, Dawn Earl, Heather Ferguson, Heather Fisher, David Fitzpatrick, Pamela Gerrol, Daniela Giachino, Joseph Glessner, Troy J. Gliem, Margo Grady, Brett H. Graham, Cristin Griffis, Karen W. Gripp, Andrea Gropman, Andrea Hanson‐Kahn, David J. Harris, Mark A. Hayden, R. Sean Hill, Ron Hochstenbach, Jodi D. Hoffman, Robert J. Hopkin, Monika Weisz Hubshman, A. Micheil Innes, Mira Irons, Melita Irving, Jessie C. Jacobsen, Sandra Janssens, Tamison Jewett, John P. Johnson, Marjolijn C.J. Jongmans, Stephen G. Kahler, David A. Koolen, Jerome Korzelius, Peter M. Kroisel, Yves Lacassie, William Lawless, Emmanuelle Lemyre, Kathleen A. Leppig, Alex V. Levin, Haibo Li, Hong Li, Eric C. Liao, Cynthia Lim, Edward J. Lose, Diane Lucente, Michael J. Macera, Poornima Manavalan, Giorgia Mandrile, Carlo Marcelis, Lauren Margolin, Tamara Mason, Diane Masser‐Frye, Michael McClellan, Cinthya J. Zepeda Mendoza, Björn Menten, Sjors Middelkamp, Liya Regina Mikami, Emily Moe, Shehla Mohammed, Tarja Mononen, Megan Mortenson

    منشور في 2016
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    Artigo
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