檢索結果 - Mira Irons

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  1. 1
    ACMG practice guideline: Genetic evaluation of short stature

    ACMG practice guideline: Genetic evaluation of short stature 由 Laurie H. Seaver, Mira Irons

    出版 2009
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  2. 2
    Trustworthy Augmented Intelligence in Health Care

    Trustworthy Augmented Intelligence in Health Care 由 Elliott Crigger, Karen Reinbold, Chelsea Hanson, Audiey Kao, Kathleen Blake, Mira Irons

    出版 2022
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    Revisão
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  3. 3
    Defective Cholesterol Biosynthesis Associated with the Smith-Lemli-Opitz Syndrome

    Defective Cholesterol Biosynthesis Associated with the Smith-Lemli-Opitz Syndrome 由 G S Tint, Mira Irons, Ellen Roy Elias, Ashok K. Batta, Roger Frieden, Thomas S. Chen, Gerald Salen

    出版 1994
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  4. 4
    Abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz syndrome.

    Abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz syndrome. 由 G Salen, Sarah Shefer, A K Batta, G S Tint, Guowang Xu, Akira Honda, Mira Irons, Ellen Roy Elias

    出版 1996
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  5. 5
    The spectrum of vascular anomalies in patients with PTEN mutations: implications for diagnosis and management

    The spectrum of vascular anomalies in patients with PTEN mutations: implications for diagnosis and management 由 Wen‐Hann Tan, Hagit Baris, Patricia E. Burrows, Caroline D. Robson, Ahmad I. Alomari, John B. Mulliken, Steven J. Fishman, Mira Irons

    出版 2007
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  6. 6
    Markedly inhibited 7-dehydrocholesterol-delta 7-reductase activity in liver microsomes from Smith-Lemli-Opitz homozygotes.

    Markedly inhibited 7-dehydrocholesterol-delta 7-reductase activity in liver microsomes from Smith-Lemli-Opitz homozygotes. 由 Sarah Shefer, Gerald Salen, A K Batta, Akira Honda, G S Tint, Mira Irons, Ellen Roy Elias, Tai C. Chen, Michael F. Holick

    出版 1995
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  7. 7
    Markedly increased tissue concentrations of 7-dehydrocholesterol combined with low levels of cholesterol are characteristic of the Smith-Lemli-Opitz syndrome

    Markedly increased tissue concentrations of 7-dehydrocholesterol combined with low levels of cholesterol are characteristic of the Smith-Lemli-Opitz syndrome 由 G. Stephen Tint, Mary J. Seller, R Hughes-Benzie, A K Batta, Sarah Shefer, David R. Genest, Mira Irons, Ellen Roy Elias, G Salen

    出版 1995
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  8. 8
    Identifying Smith–Lemli–Opitz syndrome in conjunction with prenatal screening for Down syndrome

    Identifying Smith–Lemli–Opitz syndrome in conjunction with prenatal screening for Down syndrome 由 Wendy Y. Craig, James E. Haddow, Glenn E. Palomaki, Richard I. Kelley, Lisa E. Kratz, Cedric Shackleton, Josep Marcos, G S Tint, Andrew R. MacRae, Małgorzata J.M. Nowaczyk, Edward M. Kloza, Mira Irons, Marie Roberson

    出版 2006
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  9. 9
    Mutations in the Gene Encoding the Calcium-Permeable Ion Channel TRPV4 Produce Spondylometaphyseal Dysplasia, Kozlowski Type and Metatropic Dysplasia

    Mutations in the Gene Encoding the Calcium-Permeable Ion Channel TRPV4 Produce Spondylometaphyseal Dysplasia, Kozlowski Type and Metatropic Dysplasia 由 Deborah Krakow, Joris Vriens, Natalia Camacho, Phi Luong, Hannah Deixler, Tara Funari, Carlos A. Bacino, Mira Irons, Ingrid A. Holm, Laurie S. Sadler, Ericka Okenfuss, Annelies Janssens, Thomas Voets, David L. Rimoin, Ralph S. Lachman, Bernd Nilius, Daniel H. Cohn

    出版 2009
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  10. 10
    22q13.3 deletion syndrome: Clinical and molecular analysis using array CGH

    22q13.3 deletion syndrome: Clinical and molecular analysis using array CGH 由 Shweta U. Dhar, Daniela del Gaudio, Jennifer R. German, Sarika U. Peters, Zhishu Ou, Patricia I. Bader, Jonathan S. Berg, Maria Blazo, Chester Brown, Brett H. Graham, Theresa A. Grebe, Seema R. Lalani, Mira Irons, Steven Sparagana, Melissa Williams, John A. Phillips, Arthur L. Beaudet, Paweł Stankiewicz, Ankita Patel, Sau Wai Cheung, Trilochan Sahoo

    出版 2010
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  11. 11
    Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males

    Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males 由 Daniela del Gaudio, Ping Fang, Fernando Scaglia, Patricia A. Ward, William J. Craigen, Daniel G. Glaze, Jeffrey L. Neul, Ankita Patel, Jennifer A. Lee, Mira Irons, Susan A. Berry, Amber A. Pursley, Theresa A. Grebe, Debra Freedenberg, Rick A. Martin, Gary Hsich, Jena R Khera, Neil Friedman, Huda Y. Zoghbi, Christine M. Eng, James R. Lupski, Arthur L. Beaudet, Sau Wai Cheung, Benjamin B. Roa

    出版 2006
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  12. 12
    The phenotype of recurrent 10q22q23 deletions and duplications

    The phenotype of recurrent 10q22q23 deletions and duplications 由 Bregje W.M. van Bon, Jorune Balciuniene, Gary Fruhman, Sandesh C. Sreenath Nagamani, Diane L. Broome, Elizabeth Cameron, Danielle Martinet, Eliane Roulet, Sébastien Jacquemont, J. Beckmann, Mira Irons, Lorraine Potocki, Brendan Lee, Sau Wai Cheung, Ankita Patel, Melissa Bellini, Angelo Selicorni, Roberto Ciccone, Margherita Silengo, Annalisa Vetro, Nine V.A.M. Knoers, Nicole de Leeuw, Rolph Pfundt, Barry Wolf, Petr Jira, Swaroop Aradhya, Paweł Stankiewicz, Han G. Brunner, Orsetta Zuffardi, Scott B. Selleck, James R. Lupski, Bert B.A. de Vries

    出版 2011
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  13. 13
    Deletions of <i>NRXN1</i> (neurexin‐1) predispose to a wide spectrum of developmental disorders

    Deletions of <i>NRXN1</i> (neurexin‐1) predispose to a wide spectrum of developmental disorders 由 Michael S. Ching, Yiping Shen, Wen‐Hann Tan, Shafali Jeste, Eric M. Morrow, Xiaoli Chen, Nahit Motavallı Mukaddes, Seung‐Yun Yoo, Ellen Hanson, Rachel J. Hundley, Christina L. Austin, Ronald E. Becker, Gerard T. Berry, Katherine Driscoll, Elizabeth C. Engle, Sandra Friedman, James F. Gusella, Fuki M. Hisama, Mira Irons, Tina Lafiosca, Elaine LeClair, David T. Miller, Michael Neessen, Jonathan Picker, Leonard Rappaport, Cynthia M. Rooney, Dean Sarco, Joan M. Stoler, Christopher A. Walsh, Robert R. Wolff, Ting Zhang, Ramzi H. Nasir, Bai‐Lin Wu

    出版 2010
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  14. 14
    Copy number variation plays an important role in clinical epilepsy

    Copy number variation plays an important role in clinical epilepsy 由 Heather E. Olson, Yiping Shen, Jennifer Avallone, Beth Rosen Sheidley, Rebecca Pinsky, Ann M. Bergin, Gerard T. Berry, Frank H. Duffy, Yaman Z. Ekşioğlu, David J. Harris, Fuki M. Hisama, Eugenia Ho, Mira Irons, Christina M. Jacobsen, Philip James, Sanjeev V. Kothare, Omar Khwaja, Jonathan O. Lipton, Tobias Loddenkemper, Jennifer A. Markowitz, Kiran Maski, J. Thomas Megerian, Edward Neilan, Peter C. Raffalli, Michael Robbins, Amy E. Roberts, Eugene Roe, Caitlin K. Rollins, Mustafa Şahin, Dean Sarco, Alison Schonwald, Sharon E. Smith, Janet S. Soul, Joan M. Stoler, Masanori Takeoka, Wen‐Hann Tan, Alcy Torres, Peter T. Tsai, David K. Urion, Laura Weissman, Robert R. Wolff, Bai‐Lin Wu, David T. Miller, Annapurna Poduri

    出版 2014
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  15. 15
    The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

    The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies 由 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

    出版 2016
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