Результаты поиска - Anne Hing

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  1. 1
    Microtia: Epidemiology and genetics

    Microtia: Epidemiology and genetics по Daniela V. Luquetti, Carrie L. Heike, Anne Hing, Michael L. Cunningham, Timothy C. Cox

    Опубликовано 2011
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  2. 2
    Robin Sequence: From Diagnosis to Development of an Effective Management Plan

    Robin Sequence: From Diagnosis to Development of an Effective Management Plan по Kelly N. Evans, Kathleen C.Y. Sie, Richard A. Hopper, Robin P. Glass, Anne Hing, Michael L. Cunningham

    Опубликовано 2011
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  3. 3
    “Mandibulofacial dysostosis with microcephaly” caused by<i>EFTUD2</i>mutations: Expanding the phenotype

    “Mandibulofacial dysostosis with microcephaly” caused by<i>EFTUD2</i>mutations: Expanding the phenotype по Daniela V. Luquetti, Anne Hing, Mark J. Rieder, Deborah A. Nickerson, Emily H. Turner, Joshua D. Smith, Sarah Park, Michael L. Cunningham

    Опубликовано 2012
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    Artigo
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  4. 4
    Copy number variation analysis in single‐suture craniosynostosis: Multiple rare variants including <i>RUNX2</i> duplication in two cousins with metopic craniosynostosis

    Copy number variation analysis in single‐suture craniosynostosis: Multiple rare variants including <i>RUNX2</i> duplication in two cousins with metopic craniosynostosis по Heather C Mefford, Neil Shafer, Francesca Antonacci, Jesse Tsai, Sarah S. Park, Anne Hing, Mark J. Rieder, Matthew D. Smyth, Matthew L. Speltz, Evan E. Eichler, Michael L. Cunningham

    Опубликовано 2010
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    Artigo
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  5. 5
    Exome Sequencing Identifies a Recurrent De Novo ZSWIM6 Mutation Associated with Acromelic Frontonasal Dysostosis

    Exome Sequencing Identifies a Recurrent De Novo ZSWIM6 Mutation Associated with Acromelic Frontonasal Dysostosis по Joshua D. Smith, Anne Hing, Christine M. Clarke, Nathan M. Johnson, Francisco A. Perez, Sarah S. Park, Jeremy A. Horst, Brig Mecham, Lisa Maves, Deborah A. Nickerson, Michael L. Cunningham

    Опубликовано 2014
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    Artigo
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  6. 6
    Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity

    Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity по Ruxandra Bachmann‐Gagescu, Heather C. Mefford, Charles A. Cowan, Gwen M. Glew, Anne Hing, Stephanie E Wallace, Patricia I. Bader, Aline I. Hamati, Pamela J. Reitnauer, Rosemarie Smith, David W. Stockton, Hiltrud Muhle, Ingo Helbig, Evan E. Eichler, Blake C. Ballif, Jill A. Rosenfeld, Karen D. Tsuchiya

    Опубликовано 2010
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    Artigo
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  7. 7
    A Human Homeotic Transformation Resulting from Mutations in PLCB4 and GNAI3 Causes Auriculocondylar Syndrome

    A Human Homeotic Transformation Resulting from Mutations in PLCB4 and GNAI3 Causes Auriculocondylar Syndrome по Mark J. Rieder, Glenn E. Green, Sarah S. Park, Brendan D. Stamper, Christopher T. Gordon, Jason M. Johnson, Christopher Cunniff, Joshua D. Smith, Sarah B. Emery, Stanislas Lyonnet, Jeanne Amiel, Muriel Holder, Andrew A. Heggie, Michael J. Bamshad, Deborah A. Nickerson, Timothy C. Cox, Anne Hing, Jeremy A. Horst, Michael L. Cunningham

    Опубликовано 2012
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    Artigo
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  8. 8
    De novo loss-of-function variants in X-linked MED12 are associated with Hardikar syndrome in females

    De novo loss-of-function variants in X-linked MED12 are associated with Hardikar syndrome in females по Dong Li, Alanna Strong, Kaitlyn M Shen, David Cassiman, Maria Van Dyck, Natália D. Linhares, Eugênia Ribeiro Valadares, Tian-Cheng Wang, Sérgio D.J. Pena, Jaak Jaeken, Samantha A. Schrier Vergano, Elaine H. Zackai, Anne Hing, Penny Chow, Arupa Ganguly, Tasja Scholz, Tatjana Bierhals, Philipp Deindl, Hákon Hákonarson, Elizabeth Bhoj

    Опубликовано 2020
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    Artigo
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  9. 9
    Mutations in BMP4 Are Associated with Subepithelial, Microform, and Overt Cleft Lip

    Mutations in BMP4 Are Associated with Subepithelial, Microform, and Overt Cleft Lip по Satoshi Suzuki, Mary L. Marazita, Margaret E. Cooper, Nobutomo Miwa, Anne Hing, Astanand Jugessur, Nagato Natsume, Kazuo Shimozato, Naofumi Ohbayashi, Yasushi Suzuki, Teruyuki Niimi, Katsuhiro Minami, Masahiko Yamamoto, Tserendorj J. Altannamar, Tudevdorj Erkhembaatar, Hiroo Furukawa, Sandra Daack‐Hirsch, Jamie L’Heureux, Carla A. Brandon, Seth M. Weinberg, Katherine Neiswanger, Frederic W.‐B. Deleyiannis, Javier Salamanca, Alexandre R. Vieira, Andrew C. Lidral, James F. Martin, Jeffrey C. Murray

    Опубликовано 2009
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    Artigo
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  10. 10
    FOXE1 association with both isolated cleft lip with or without cleft palate, and isolated cleft palate

    FOXE1 association with both isolated cleft lip with or without cleft palate, and isolated cleft palate по Lina M. Moreno, M. Adela Mansilla, Steve A. Bullard, Margaret E. Cooper, Tamara Busch, Junichiro Machida, Marla Johnson, David G. Brauer, Katherine N. Krahn, Sandra Daack‐Hirsch, Jamie L’Heureux, Consuelo Valencia-Ramírez, Dora Rivera, Ana María Torres López, Manuel Moreno, Anne Hing, Edward J. Lammer, Marilyn C. Jones, Kaare Christensen, Rolv T. Lie, Astanand Jugessur, Allen J. Wilcox, Peter S. Chines, Elizabeth Pugh, Kim Doheny, Mauricio Arcos‐Burgos, Mary L. Marazita, Jeffrey C. Murray, Andrew C. Lidral

    Опубликовано 2009
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    Artigo
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  11. 11
    Haploinsufficiency of SF3B2 causes craniofacial microsomia

    Haploinsufficiency of SF3B2 causes craniofacial microsomia по Andrew T. Timberlake, Casey Griffin, Carrie L. Heike, Anne Hing, Michael L. Cunningham, David Chitayat, Mark R. Davis, Soghra Jougheh Doust, Amelia F. Drake, Milagros Dueñas, Jack Goldblatt, Jonas A. Gustafson, Paula Hurtado‐Villa, Alexis L. Johns, Natalya Karp, Nigel G. Laing, Leanne Magee, Sureni V. Mullegama, Harry Pachajoa, Gloria Liliana Porras-Hurtado, Rhonda E. Schnur, Jennie Slee, Steven L. Singer, David A. Staffenberg, Andrew E. Timms, C. Wise, Ignacio Zarante, Jean‐Pierre Saint‐Jeannet, Daniela V. Luquetti

    Опубликовано 2021
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    Artigo
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  12. 12
    Mutations in the Epithelial Cadherin-p120-Catenin Complex Cause Mendelian Non-Syndromic Cleft Lip with or without Cleft Palate

    Mutations in the Epithelial Cadherin-p120-Catenin Complex Cause Mendelian Non-Syndromic Cleft Lip with or without Cleft Palate по Liza L. Cox, Timothy C. Cox, Lina M. Moreno Uribe, Ying Zhu, Chika T. Richter, Nichole Nidey, Jennifer Standley, Mei Deng, Elizabeth Blue, Jessica X. Chong, Yueqin Yang, Russ P. Carstens, Deepti Anand, Salil A. Lachke, Joshua D. Smith, Michael O. Dorschner, Bruce Bedell, Edwin P. Kirk, Anne Hing, Hanka Venselaar, Luz Consuelo Valencia‐Ramirez, Michael J. Bamshad, Ian Glass, Jonathan A. Cooper, Eric Haan, Deborah A. Nickerson, Hans van Bokhoven, Huiqing Zhou, Katy N. Krahn, Michael F. Buckley, Jeffrey C. Murray, Andrew C. Lidral, Tony Roscioli

    Опубликовано 2018
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  13. 13
    Compound Heterozygosity of Low-Frequency Promoter Deletions and Rare Loss-of-Function Mutations in TXNL4A Causes Burn-McKeown Syndrome

    Compound Heterozygosity of Low-Frequency Promoter Deletions and Rare Loss-of-Function Mutations in TXNL4A Causes Burn-McKeown Syndrome по Dagmar Wieczorek, William G. Newman, Thomas Wieland, Tea Berulava, Maria Kaffe, D. Falkenstein, Christian Beetz, Elisabeth Graf, Thomas Schwarzmayr, Sofia Douzgou, Jill Clayton‐Smith, Sarah B. Daly, Simon G. Williams, Sanjeev S. Bhaskar, Jill Urquhart, Beverley Anderson, James O’Sullivan, Odile Boute, Jasmin Gundlach, Johanna Christina Czeschik, Anthonie J. van Essen, Fılız Hazan, Sarah Park, Anne Hing, Alma Kuechler, Dietmar Lohmann, Kerstin U. Ludwig, Elisabeth Mangold, Laura Steenpaß, Michael Zeschnigk, Johannes R. Lemke, Charles Marques Lourenço, Ute Hehr, Eva-Christina Prott, Mélanie Waldenberger, Anne C. Böhmer, Bernhard Horsthemke, Raymond T. O’Keefe, Thomas Meitinger, John Burn, H.-J. Lüdecke, Tim M. Strom

    Опубликовано 2014
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  14. 14
    Correction to “A mutational hotspot in <i>AMOTL1</i> defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature”

    Correction to “A mutational hotspot in <i>AMOTL1</i> defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature” по Von Hardenberg, Alanna Strong, Soumya Rao, Sandra von Hardenberg, Dong Li, Liza L. Cox, Paul C. Lee, Li Zhang, Waheed Awotoye, Tamir Diamond, Jessica I. Gold, Catherine Gooch, Jephthah Gowans, Hákon Hákonarson, Anne Hing, Kathleen M. Loomes, Nicole Martin, Thanuja Selvanayagam, Mary L. Marazita, Tarja Mononen, David A. Piccoli, Rolph Pfundt, Salmo Raskin, Stephen W. Scherer, Nara Sobriera, Courtney Vaccaro, Xiang Wang, Deborah Watson, Rosanna Weksberg, Elizabeth Bhoj, Jeffrey C. Murray, Andrew C. Lidral, Azeez Butali, Michael F. Buckley, Tony Roscioli, David A. Koolen, Laurie H. Seaver, Cynthia A. Prows, Rolf W. Stottmann, Timothy C. Cox

    Опубликовано 2023
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    Errata/Corrigenda
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  15. 15
    Variants in members of the cadherin–catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome

    Variants in members of the cadherin–catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome по Anneke J.A. Kievit, Federico Tessadori, Hannie Douben, Ingrid Jordens, Madelon M. Maurice, Jeannette Hoogeboom, Raoul C. M. Hennekam, Sheela Nampoothiri, Hülya Kayserili, Marco Castori, Margo Whiteford, Connie S. Motter, Catherine Melver, Michael L. Cunningham, Anne Hing, Nancy Mizue Kokitsu‐Nakata, Siulan Vendramini‐Pittoli, Antônio Richieri‐Costa, Annette F. Baas, Corstiaan C. Breugem, Karen Duran, Maarten P.G. Massink, Patrick W.B. Derksen, Wilfred F. J. van IJcken, Leontine van Unen, Fernando Santos‐Simarro, Pablo Lapunzina, Vera Lúcia Gil‐da‐Silva‐Lopes, Elaine Lustosa‐Mendes, Max Krall, Anne Slavotinek, Víctor Martínez‐Glez, Jeroen Bakkers, Koen L.I. van Gassen, Annelies de Klein, Marie‐José H. van den Boogaard, Gijs van Haaften

    Опубликовано 2018
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  16. 16
    Targeted long-read sequencing identifies missing disease-causing variation

    Targeted long-read sequencing identifies missing disease-causing variation по Danny E. Miller, Arvis Sulovari, Tianyun Wang, Hailey Loucks, Kendra Hoekzema, Katherine M. Munson, Alexandra P. Lewis, Edith P. Almanza Fuerte, Catherine R. Paschal, Tom Walsh, Jenny Thies, James T. Bennett, Ian Glass, Katrina M. Dipple, Karynne Patterson, Emily Bonkowski, Zoe Nelson, Audrey Squire, Megan Sikes, Erika Beckman, Robin L. Bennett, Dawn Earl, Winston Lee, Rando Allikmets, Seth J. Perlman, Penny Chow, Anne Hing, Tara Wenger, Margaret P Adam, Angela Sun, Christina Lam, Irene J. Chang, Xue Zou, Stephanie Austin, Erin Huggins, Alexias Safi, Apoorva K. Iyengar, Timothy E. Reddy, William H. Majoros, Andrew S. Allen, Gregory E. Crawford, Priya S. Kishnani, Mary‐Claire King, Tim Cherry, Jessica X. Chong, Michael J. Bamshad, Deborah A. Nickerson, Heather C. Mefford, Dan Doherty, Evan E. Eichler

    Опубликовано 2021
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  17. 17
    LUSTR: a new customizable tool for calling genome-wide germline and somatic short tandem repeat variants

    LUSTR: a new customizable tool for calling genome-wide germline and somatic short tandem repeat variants по Jinfeng Lü, Camilo Toro, David R. Adams, Maria T. Acosta, Margaret P Adam, Raquel L. Alvarez, Justin Alvey, Laura M. Amendola, Ashley Andrews, Euan A. Ashley, Carlos A. Bacino, Güney Bademci, Ashok Balasubramanyam, Dustin Baldridge, Jim Bale, Michael J. Bamshad, Deborah Barbouth, Pınar Bayrak‐Toydemir, Anita Beck, Alan H. Beggs, Edward M. Behrens, Gill Bejerano, Hugo J. Bellen, Jimmy Bennett, Beverly Berg-Rood, Jonathan A. Bernstein, Gerard T. Berry, Anna Bican, Stephanie Bivona, Elizabeth Blue, John Bohnsack, Devon Bonner, Lorenzo D. Botto, Brenna Boyd, Lauren C. Briere, Gabrielle Brown, Elizabeth A. Burke, Lindsay C. Burrage, Manish J. Butte, Peter H. Byers, William E. Byrd, John C. Carey, Olveen Carrasquillo, Thomas Cassini, Ta Chen Chang, Sirisak Chanprasert, Hsiao‐Tuan Chao, Iván K. Chinn, Gary Clark, Terra R. Coakley, Laurel A. Cobban, Joy D. Cogan, Matthew Coggins, F. Sessions Cole, Heather A. Colley, Heidi Cope, Rosario I. Corona, William J. Craigen, Andrew B. Crouse, Michael L. Cunningham, Precilla D’Souza, Hongzheng Dai, Surendra Dasari, Joie Davis, Jyoti G. Dayal, Esteban C. Dell’Angelica, Patricia Dickson, Katrina M. Dipple, Daniel Doherty, Naghmeh Dorrani, Argenia L. Doss, Emilie D. Douine, Dawn Earl, David J. Eckstein, Lisa Emrick, Christine M. Eng, Marni J. Falk, Elizabeth L. Fieg, Paul G. Fisher, Brent L. Fogel, Irman Forghani, William A. Gahl, I. S. Glass, Bernadette Gochuico, Pagé C. Goddard, Rena A. Godfrey, Katie Golden‐Grant, Alana Grajewski, Don Hadley, Sihoun Hahn, Meghan C. Halley, Rizwan Hamid, Kelly Hassey, Nichole Hayes, Frances A. High, Anne Hing, Fuki M. Hisama, Ingrid A. Holm, Jason Hom, Martha Horike‐Pyne

    Опубликовано 2024
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    Artigo
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