検索結果 - Lakshmi Mehta

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  1. 1
    CRB2 Mutations Produce a Phenotype Resembling Congenital Nephrosis, Finnish Type, with Cerebral Ventriculomegaly and Raised Alpha-Fetoprotein

    CRB2 Mutations Produce a Phenotype Resembling Congenital Nephrosis, Finnish Type, with Cerebral Ventriculomegaly and Raised Alpha-Fetoprotein 著者: Anne Slavotinek, Julie Kaylor, Heather Pierce, Michelle Cahr, Stephanie J. DeWard, Dina Schneidman‐Duhovny, Adnan Alsadah, Fadi Salem, Gabriela Schmajuk, Lakshmi Mehta

    出版事項 2014
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    Artigo
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  2. 2
    Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy

    Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy 著者: Amy Yang, Bobby G. Ng, Steven A. Moore, Jeffrey S. Rush, Charles J. Waechter, Kimiyo Raymond, Tobias Willer, Kevin P. Campbell, Hudson H. Freeze, Lakshmi Mehta

    出版事項 2013
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    Artigo
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  3. 3
    Expansion of phenotype and genotypic data in CRB2-related syndrome

    Expansion of phenotype and genotypic data in CRB2-related syndrome 著者: Ryan E. Lamont, Wen‐Hann Tan, A. Micheil Innes, Jillian S. Parboosingh, Dina Schneidman‐Duhovny, Aleksandar Rajkovic, John Pappas, Pablo Altschwager, Stephanie J. DeWard, Anne B. Fulton, Kathryn J. Gray, Max Krall, Lakshmi Mehta, Lance H. Rodan, Devereux N. Saller, Deanna Steele, Deborah R. Stein, Svetlana A. Yatsenko, François Bernier, Anne Slavotinek

    出版事項 2016
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    Revisão
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  4. 4
    ABCA12 Is the Major Harlequin Ichthyosis Gene

    ABCA12 Is the Major Harlequin Ichthyosis Gene 著者: Anna Thomas, Tom Cullup, Elizabeth E. Norgett, Tara G. Hill, Stephanie Barton, Beverly A. Dale, Eli Sprecher, Eamonn Sheridan, Aileen Taylor, R. Sid Wilroy, Celia D. Delozier, Nigel Burrows, Helen Goodyear, Philip Fleckman, Karen Stephens, Lakshmi Mehta, Rosemarie M. Watson, Regina M. Graham, Roni Wolf, Anne Slavotinek, Madelena Martin, David Bourn, Charles A. Mein, Edel A. O’Toole, David P. Kelsell

    出版事項 2006
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    Artigo
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  5. 5
    Novel variants in the SOX11 gene: additional evidence for the involvement of SOX11 in hypogonadotropic hypogonadism

    Novel variants in the SOX11 gene: additional evidence for the involvement of SOX11 in hypogonadotropic hypogonadism 著者: Társis Paiva Vieira, Beatriz Schincariol-Manhe, Érica Campagnolo, Samira Spineli‐Silva, Nicole de Leeuw, Gabriela Roldão Correia‐Costa, André Luiz Santos Pessoa, Carolina Fischinger Moura de Souza, Cathy A. Stevens, Poupak Javaher, Helena Scallet, Julia Mohr, Saskia Biskup, Johanna C. Herkert, Rolph Pfundt, Lakshmi Mehta, Aisha Rekab, Houda Zghal Elloumi, Andréa Trevas Maciel‐Guerra, Vera Lúcia Gil‐da‐Silva‐Lopes, Ana dos Santos, May Sanyoura

    出版事項 2024
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    Pré-impressão
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  6. 6
    Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations

    Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations 著者: Jennifer J. Johnston, Julie C. Sapp, Joyce Turner, David J. Amor, Salim Aftimos, Kyrieckos A. Aleck, Maureen Bocian, Joann Bodurtha, Gerald F. Cox, Cynthia J. Curry, Ruth Day, Dian Donnai, Michael Field, Ikuma Fujiwara, Michael T. Gabbett, Moran Gal, John M. Graham, Peter Hedera, Raoul C. M. Hennekam, Joseph H. Hersh, Robert J. Hopkin, Hülya Kayserili, Alexa Kidd, Virginia Kimonis, Angela E. Lin, Sally Ann Lynch, Melissa K. Maisenbacher, Sahar Mansour, Julie McGaughran, Lakshmi Mehta, Helen Murphy, Margarita Raygada, Nathaniel H. Robin, Alan F. Rope, Kenneth N. Rosenbaum, G. Bradley Schaefer, Amy Shealy, Wendy E. Smith, Maria Soller, Annmarie Sommer, Heather J. Stalker, Bernhard Steiner, Mark J. Stephan, David Tilstra, Susan Tomkins, Pamela Trapane, Anne Chun-Hui Tsai, Margot I. Van Allen, Pradeep Vasudevan, Bernhard Zabel, Janice Zunich, Graeme Black, Leslie G. Biesecker

    出版事項 2010
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    Artigo
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  7. 7
    DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders

    DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders 著者: Ivana Lessel, Anja Barešić, Iván K. Chinn, Jonathan May, Anu Goenka, Kate Chandler, Jennifer E. Posey, Alexandra Afenjar, Luisa Averdunk, Maria Francesca Bedeschi, Thomas Besnard, Rae Brager, Lauren Brick, Melanie Brugger, Theresa Brunet, Susan Byrne, Oscar De La Calle-Martin, Valeria Capra, Paúl Cárdenas, Céline Chappé, Hey Chong, Benjamin Cogné, Erin Conboy, Heidi Cope, Thomas Courtin, Wallid Deb, Robertino Dilena, Christèle Dubourg, Magdeldin Elgizouli, Erica Fernandes, Kristi K. Fitzgerald, Silvana Gangi, Jaya K. George‐Abraham, Müge Güçsavaş‐Çalıkoğlu, Tobias B. Haack, Medard Hadonou, Britta Hanker, Irina Hüning, Maria Iascone, Bertrand Isidor, Irma Järvelä, Jay Jin, Alexander A.L. Jorge, Dragana Josifova, Ruta Kalinauskiene, Erik-Jan Kamsteeg, Boris Keren, E Kessler, Heike Kölbel, Mariya Kozenko, Christian Kubisch, Alma Kuechler, Suzanne M. Leal, Juha Leppälä, Sharon Luu, Gholson J. Lyon, Suneeta Madan-Khetarpal, Maria Margherita Mancardi, Elaine Marchi, Lakshmi Mehta, Beatriz Menéndez, Chantal F. Morel, Sue Moyer Harasink, Dayna‐Lynn Nevay, Vincenzo Nigro, Sylvie Odent, Renske Oegema, John Pappas, Matthew Pastore, Yezmin Perilla‐Young, Konrad Platzer, Nina Powell‐Hamilton, Rachel Rabin, Aisha Rekab, Raíssa Rezende, Leema Robert, Ferruccio Romano, Marcello Scala, Karin Poths, Isabelle Schrauwen, Jessica Sebastian, John Short, Richard Sidlow, Jennifer L. Sullivan, Katalin Szakszon, Queenie K.‐G. Tan, Matias Wagner, Dagmar Wieczorek, Bo Yuan, Nicole Maeding, Dirk Strunk, Amber Begtrup, Siddharth Banka, James R. Lupski, Eva Tolosa, Davor Lessel

    出版事項 2025
    全文の入手
    Artigo
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