Resultados da busca - Stephanie Sacharow

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  1. 1
    Detection of pathogenic gene copy number variations in patients with mental retardation by genomewide oligonucleotide array comparative genomic hybridization

    Detection of pathogenic gene copy number variations in patients with mental retardation by genomewide oligonucleotide array comparative genomic hybridization por Yao‐Shan Fan, Parul Jayakar, Hongbo Zhu, Deborah Barbouth, Stephanie Sacharow, Ana Morales, Virginia Carver, Paul J. Benke, Peter Mundy, Louis J. Elsas

    Publicado em 2007
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  2. 2
    Frequent detection of parental consanguinity in children with developmental disorders by a combined CGH and SNP microarray

    Frequent detection of parental consanguinity in children with developmental disorders by a combined CGH and SNP microarray por Yao‐Shan Fan, Xiaomei Ouyang, Jinghong Peng, Stephanie Sacharow, Mustafa Tekin, Deborah Barbouth, Olaf A. Bodamer, Roman Yusupov, C. Navarrete, Ana Helena Heller, Sérgio D.J. Pena

    Publicado em 2013
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  3. 3
    Pegvaliase for the treatment of phenylketonuria: Final results of a long-term phase 3 clinical trial program

    Pegvaliase for the treatment of phenylketonuria: Final results of a long-term phase 3 clinical trial program por Cary O. Harding, Nicola Longo, Hope Northrup, Stephanie Sacharow, Rani H. Singh, Janet A. Thomas, Jerry Vockley, Roberto T. Zori, Kaleigh Bulloch Whitehall, Joshua Lilienstein, Kristin Lindstrom, Drew Levy, Shaun Jones, Barbara K. Burton

    Publicado em 2024
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  4. 4
    Evidence- and consensus-based recommendations for the use of pegvaliase in adults with phenylketonuria

    Evidence- and consensus-based recommendations for the use of pegvaliase in adults with phenylketonuria por Nicola Longo, David Dimmock, Harvey L. Levy, Krista Viau, Heather Bausell, Deborah A. Bilder, Barbara K. Burton, Christel Gross, Hope Northrup, Fran Rohr, Stephanie Sacharow, Amarilis Sanchez‐Valle, Mary Stuy, Janet A. Thomas, Jerry Vockley, Roberto T. Zori, Cary O. Harding

    Publicado em 2018
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  5. 5
    Copy Number Variants in Extended Autism Spectrum Disorder Families Reveal Candidates Potentially Involved in Autism Risk

    Copy Number Variants in Extended Autism Spectrum Disorder Families Reveal Candidates Potentially Involved in Autism Risk por Daria Salyakina, Holly N. Cukier, Joycelyn M. Lee, Stephanie Sacharow, Laura Nations, Deqiong Ma, James Jaworski, Ioanna Konidari, Patrice L. Whitehead, Harry H. Wright, Ruth K. Abramson, Scott M. Williams, Ramkumar Menon, Jonathan L. Haines, John R. Gilbert, Michael L. Cuccaro, Margaret A. Pericak‐Vance

    Publicado em 2011
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  6. 6
    <i>MPV17</i>-related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects

    <i>MPV17</i>-related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects por Ayman W. El‐Hattab, Julia Wang, Hongzheng Dai, Mohammed Almannai, Christian Staufner, Majid Alfadhel, Michael J. Gambello, Pankaj Prasun, Saleem Raza, Hernando Lyons, Manal Afqi, Mohammed A. Saleh, Eissa Faqeih, Hamad Alzaidan, Abduljabbar Alshenqiti, Leigh Anne Flore, Jozef Hertecant, Stephanie Sacharow, Deborah Barbouth, Kei Murayama, Amit A. Shah, Henry C. Lin, Lee-Jun Wong

    Publicado em 2017
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  7. 7
    Management of early treated adolescents and young adults with phenylketonuria: Development of international consensus recommendations using a modified Delphi approach

    Management of early treated adolescents and young adults with phenylketonuria: Development of international consensus recommendations using a modified Delphi approach por Barbara K. Burton, Á. Hermida Ameijeiras, Amaya Bélanger-Quintana, Heather Bell, Kendra Bjoraker, Shawn E. Christ, Mitzie Grant, Cary O. Harding, Stephan C. J. Huijbregts, Nicola Longo, Markey McNutt, Mina Nguyen‐Driver, André Luiz Santos Pessoa, Júlio César Rocha, Stephanie Sacharow, Amarilis Sanchez‐Valle, Serap Sivri, Jerry Vockley, Mark Walterfang, Sarah Whittle, Ania C. Muntau

    Publicado em 2022
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  8. 8
    De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions

    De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions por Brieana Fregeau, Bum‐Joon Kim, Andrés Hernández, Valerie K. Jordan, Megan T. Cho, Rhonda E. Schnur, Kristin G. Monaghan, Jane Juusola, Jill A. Rosenfeld, Elizabeth Bhoj, Elaine H. Zackai, Stephanie Sacharow, Kristin Barañano, Daniëlle G.M. Bosch, Bert B.A. de Vries, Kristin Lindstrom, Audrey Schroeder, Philip James, Peggy Kulch, Seema R. Lalani, Mieke M. van Haelst, Koen L.I. van Gassen, Ellen van Binsbergen, A. James Barkovich, Daryl A. Scott, Elliott H. Sherr

    Publicado em 2016
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  9. 9
    Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome

    Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome por Yline Capri, Elisabetta Flex, Oliver H.F. Krumbach, Giovanna Carpentieri, Serena Cecchetti, Christina Lißewski, Soheila Rezaei Adariani, Denny Schanze, Julia Brinkmann, Juliette Piard, Francesca Pantaleoni, Francesca Romana Lepri, Elaine Goh, Karen Chong, Elliot Stieglitz, Julia Meyer, Alma Kuechler, Nuria C. Bramswig, Stephanie Sacharow, Marion Strullu, Yoann Vial, Cédric Vignal, George Kensah, Goran Čuturilo, Neda S. Kazemein Jasemi, Radovan Dvorský, Kristin G. Monaghan, Lisa M. Vincent, Hélène Cavé, Alain Verloès, Mohammad Reza Ahmadian, Marco Tartaglia, Martin Zenker

    Publicado em 2019
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  10. 10
    Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis

    Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis por Renzo Guerrini, Davide Mei, Katalin Kerti‐Szigeti, Sara Pepe, Mary Kay Koenig, Gretchen Von Allmen, Megan T Cho, Kimberly S. McDonald, Janice Baker, Vikas Bhambhani, Zöe Powis, Lance H. Rodan, Rima Nabbout, Giulia Barcia, Jill A. Rosenfeld, Carlos A. Bacino, Cyril Mignot, L. Power, Catharine Harris, Dragan Marjanović, Rikke S. Møller, Trine Bjørg Hammer, Riikka Keski Filppula, Päivi Vieira, Clara Hildebrandt, Stephanie Sacharow, Luca Maragliano, Fabio Benfenati, Katherine Lachlan, Andreas Benneche, Florence Petit, Jean Madeleine de Sainte Agathe, Barbara Hallinan, Yue Si, Ingrid M. Wentzensen, Fanggeng Zou, Vinodh Narayanan, Naomichi Matsumoto, Alessandra Boncristiano, Giancarlo la Marca, Mitsuhiro Kato, Kristin Anderson, Carmen Barba, Luisa Sturiale, Domenico Garozzo, Roberto Bei, Laura Masuelli, Valerio Conti, Gaia Novarino, Anna Fassio

    Publicado em 2022
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  11. 11
    Refining the phenotype associated with <i>GNB1</i> mutations: Clinical data on 18 newly identified patients and review of the literature

    Refining the phenotype associated with <i>GNB1</i> mutations: Clinical data on 18 newly identified patients and review of the literature por Parisa Hemati, Anya Revah‐Politi, Haim Bassan, Slavé Petrovski, Colleen G. Bilancia, Keri Ramsey, Nicole G. Griffin, Louise Bier, Megan T. Cho, Mónica Roselló, Sally Ann Lynch, Sophie Colombo, Astrid Weber, Marte G. Haug, Erin L. Heinzen, Tristan T. Sands, Vinodh Narayanan, Michelle Primiano, Vimla S. Aggarwal, Francisca Millan, Shannon G. Sattler‐Holtrop, Alfonso Caro‐Llopis, Nir Pillar, Janice Baker, Rebecca Freedman, Hester Y. Kroes, Stephanie Sacharow, Nicholas Stong, Pablo Lapunzina, Michael C. Schneider, Nancy J. Mendelsohn, Amanda Singleton, Valerie Loik Ramey, Karen Wou, Alla Kuzminsky, Sandra Monfort, Monika Weisz Hubshman, Samantha Doyle, Alejandro Iglesias, Francisco Martı́nez, F. Ellis McKenzie, Carmen Orellana, Koen L.I. van Gassen, María Palomares‐Bralo, Lily Bazak, Andy Lee, Ana Bircher, Lina Basel‐Vanagaite, Maria Hafström, Gunnar Houge, David B. Goldstein, Kwame Anyane‐Yeboa

    Publicado em 2018
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  12. 12
    De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder

    De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder por Sébastien Küry, Thomas Besnard, Frédéric Ebstein, Tahir Naeem Khan, Tomasz Gambin, Jessica Douglas, Carlos A. Bacino, William J. Craigen, Stephan Sanders, Andrea Lehmann, Xénia Latypova, Kamal Khan, Mathilde Pacault, Stephanie Sacharow, Kimberly Glaser, Éric Bieth, Laurence Perrin‐Sabourin, Marie‐Line Jacquemont, Megan T. Cho, Elizabeth Roeder, Anne‐Sophie Denommé‐Pichon, Kristin G. Monaghan, Bo Yuan, Fan Xia, Sylvain Simon, Dominique Bonneau, Philippe Parent, Brigitte Gilbert‐Dussardier, Sylvie Odent, Annick Toutain, Laurent Pasquier, Deborah Barbouth, Chad A. Shaw, Ankita Patel, Janice Smith, Weimin Bi, Sébastien Schmitt, Wallid Deb, Mathilde Nizon, Sandra Mercier, Marie Vincent, Caroline Rooryck, Valérie Malan, Ignacio Briceño, Alberto Gómez, Kimberly Nugent, James B. Gibson, Benjamin Cogné, James R. Lupski, Holly A.F. Stessman, Evan E. Eichler, Kyle Retterer, Yaping Yang, Richard Redon, Nicholas Katsanis, Jill A. Rosenfeld, Peter‐Michael Kloetzel, Christelle Golzio, Stéphane Bézieau, Paweł Stankiewicz, Bertrand Isidor

    Publicado em 2017
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