תוצאות חיפוש - Jennifer Friedman

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  1. 1
    <i>ADCY5</i> mutation carriers display pleiotropic paroxysmal day and nighttime dyskinesias

    <i>ADCY5</i> mutation carriers display pleiotropic paroxysmal day and nighttime dyskinesias מאת Jennifer Friedman, Aurélie Méneret, Donghui Chen, Oriane Trouillard, Marie Vidailhet, Wendy H. Raskind, Emmanuel Roze

    יצא לאור 2015
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    Carta
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  2. 2
    “It’s something that marks you”: Abortion stigma after decriminalization in Uruguay

    “It’s something that marks you”: Abortion stigma after decriminalization in Uruguay מאת Roosbelinda Cárdenas, Ana Labandera, Sarah E. Baum, Fernanda Chiribao, Ivana Leus, Silvia Avondet, Jennifer Friedman

    יצא לאור 2018
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    Artigo
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  3. 3
    A harm-reduction model of abortion counseling about misoprostol use in Peru with telephone and in-person follow-up: A cohort study

    A harm-reduction model of abortion counseling about misoprostol use in Peru with telephone and in-person follow-up: A cohort study מאת Daniel Grossman, Sarah E. Baum, Denitza Fortin Andjelic, Carrie Tatum, Guadalupe Torres, Liza Fuentes, Jennifer Friedman

    יצא לאור 2018
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    Artigo
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  4. 4
    Characterization of a patient-derived variant of GPX4 for precision therapy

    Characterization of a patient-derived variant of GPX4 for precision therapy מאת Hengrui Liu, F. Forouhar, Tobias Seibt, Russell P. Saneto, Kristen Wigby, Jennifer Friedman, Xin Xia, Mikhail S. Shchepinov, Sanath Kumar Ramesh, Marcus Conrad, Brent R. Stockwell

    יצא לאור 2021
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    Artigo
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  5. 5
    <i>Caenorhabditis elegans</i> provides an efficient drug screening platform for <i>GNAO1</i>-related disorders and highlights the potential role of caffeine in controlling dyskinesia

    <i>Caenorhabditis elegans</i> provides an efficient drug screening platform for <i>GNAO1</i>-related disorders and highlights the potential role of caffeine in controlling dyskines... מאת Martina Di Rocco, Serena Galosi, Enrico Lanza, Federica Tosato, Davide Caprini, Viola Folli, Jennifer Friedman, Gianfranco Bocchinfuso, Alberto Martire, Elia Di Schiavi, Vincenzo Leuzzi, Simone Martinelli

    יצא לאור 2021
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    Artigo
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  6. 6
    De novo <i>KCNB1</i> mutations in epileptic encephalopathy

    De novo <i>KCNB1</i> mutations in epileptic encephalopathy מאת Ali Torkamani, Kevin Bersell, Benjamin S. Jorge, R. L. Bjork, Jennifer Friedman, Cinnamon S. Bloss, Julie S. Cohen, Siddharth Gupta, Sakkubai Naidu, Carlos G. Vanoye, Alfred L. George, Jennifer A. Kearney

    יצא לאור 2014
    קבל טקסט מלא
    Artigo
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  7. 7
    Approaches to long-read sequencing in a clinical setting to improve diagnostic rate

    Approaches to long-read sequencing in a clinical setting to improve diagnostic rate מאת Erica Sanford Kobayashi, Serge Batalov, Aaron M. Wenger, Christine Lambert, Harsharan Dhillon, Richard Hall, Primo Baybayan, Yan Ding, Seema Rego, Kristen Wigby, Jennifer Friedman, Charlotte A. Hobbs, Matthew N. Bainbridge

    יצא לאור 2022
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    Artigo
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  8. 8
    Whole-Genome Sequencing for Optimized Patient Management

    Whole-Genome Sequencing for Optimized Patient Management מאת Matthew N. Bainbridge, Wojciech Wiszniewski, David R. Murdock, Jennifer Friedman, Claudia Gonzaga‐Jauregui, Irene Newsham, Jeffrey G. Reid, John K. Fink, Margaret Morgan, Marie‐Claude Gingras, Donna M. Muzny, Linh D. Hoang, Shahed Yousaf, James R. Lupski, Richard A. Gibbs

    יצא לאור 2011
    קבל טקסט מלא
    Artigo
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  9. 9
    Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization

    Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization מאת Lauge Farnaes, Amber Hildreth, Nathaly M. Sweeney, Michelle M. Clark, Shimul Chowdhury, Shareef Nahas, Julie A. Cakici, Wendy Benson, Robert H. Kaplan, Richard Kronick, Matthew N. Bainbridge, Jennifer Friedman, Jeffrey J. Gold, Yan Ding, Narayanan Veeraraghavan, David Dimmock, Stephen F. Kingsmore

    יצא לאור 2018
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    Artigo
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  10. 10
    The International Working Group on Neurotransmitter related Disorders (iNTD): A worldwide research project focused on primary and secondary neurotransmitter disorders

    The International Working Group on Neurotransmitter related Disorders (iNTD): A worldwide research project focused on primary and secondary neurotransmitter disorders מאת Thomas Opladen, Elisenda Cortès‐Saladelafont, Mario Mastrangelo, Gabriella Horváth, Roser Pons, Eduardo López‐Laso, Joaquín Alejandro Fernández‐Ramos, Tomáš Honzík, Toni S. Pearson, Jennifer Friedman, Sabine Scholl‐Bürgi, Tessa Wassenberg, Sabine Jung‐Klawitter, Oya Kuseyri Hübschmann, Kathrin Jeltsch, Manju A. Kurian, Àngels García‐Cazorla

    יצא לאור 2016
    קבל טקסט מלא
    Artigo
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  11. 11
    Transitional Care for Young People with Movement Disorders: <scp>Consensus‐Based</scp> Recommendations from the <scp>MDS</scp> Task Force on Pediatrics

    Transitional Care for Young People with Movement Disorders: <scp>Consensus‐Based</scp> Recommendations from the <scp>MDS</scp> Task Force on Pediatrics מאת Tamara Pringsheim, Amit Batla, Ali Shalash, Jitendra Kumar Sahu, Carlos Cosentino, Darius Ebrahimi‐Fakhari, Jennifer Friedman, Jean‐Pierre Lin, Jonathan W. Mink, Alexander Münchau, Daniela Muñoz, Nardo Nardocci, Belén Pérez‐Dueñas, Zomer Sardar, Chahnez Triki, Hilla Ben‐Pazi, Laura Silveira‐Moriyama, Monica Troncoso‐Schifferli, Kyoko Hoshino, Russell C. Dale, Victor S.C. Fung, Manju A. Kurian, Emmanuel Roze

    יצא לאור 2023
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    Revisão
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  12. 12
    Gain‐of‐function <i>ADCY5</i> mutations in familial dyskinesia with facial myokymia

    Gain‐of‐function <i>ADCY5</i> mutations in familial dyskinesia with facial myokymia מאת Yingzhang Chen, Jennifer Friedman, Donghui Chen, Guy C.‐K. Chan, Cinnamon S. Bloss, Fuki M. Hisama, Sarah E. Topol, Andrew R. Carson, Phillip Pham, Emily Bonkowski, Erick R. Scott, Janel K. Lee, Guangfa Zhang, Glenn Oliveira, Jian Xu, Ashley A. Scott‐Van Zeeland, Qi Chen, Samuel Lévy, Eric J. Topol, Daniel R. Storm, Phillip D. Swanson, Thomas D. Bird, Nicholas J. Schork, Wendy H. Raskind, Ali Torkamani

    יצא לאור 2014
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    Artigo
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  13. 13
    Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy

    Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy מאת Jennifer Friedman, Desirée E.C. Smith, Mahmoud Y. Issa, Valentina Stanley, Rengang Wang, Marisa I. Mendes, Meredith S. Wright, Kristen Wigby, Amber Hildreth, John R. Crawford, Alanna E. Koehler, Shimul Chowdhury, Shareef Nahas, Liting Zhai, Zhiwen Xu, Wing‐Sze Lo, Kiely N. James, Damir Musaev, Andrea Accogli, Kether Guerrero, Luan T. Tran, Tarek Omar, Tawfeg Ben‐Omran, David Dimmock, Stephen F. Kingsmore, Gajja S. Salomons, Maha S. Zaki, Geneviève Bernard, Joseph G. Gleeson

    יצא לאור 2019
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    Artigo
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  14. 14
    Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies

    Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies מאת Thomas Opladen, Eduardo López‐Laso, Elisenda Cortès‐Saladelafont, Toni S. Pearson, Serap Sivri, Yılmaz Yıldız, Birgit Assmann, Manju A. Kurian, Vincenzo Leuzzi, Simon Heales, Simon Pope, Francesco Porta, Ángeles García‐Cazorla, Tomáš Honzík, Roser Pons, Luc Régal, Helly Goez, Rafael Artuch, Georg F. Hoffmann, Gabriella Horváth, Beat Thöny, Sabine Scholl‐Bürgi, Alberto Burlina, Marcel M. Verbeek, Mario Mastrangelo, Jennifer Friedman, Tessa Wassenberg, Kathrin Jeltsch, Jan Kulhánek, Oya Kuseyri Hübschmann

    יצא לאור 2020
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    Revisão
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  15. 15
    Clinical characterization of Collagen <scp>XII</scp>‐related disease caused by biallelic <i>COL12A1</i> variants

    Clinical characterization of Collagen <scp>XII</scp>‐related disease caused by biallelic <i>COL12A1</i> variants מאת Riley M. McCarty, Dimah Saade, Pinki Munot, Chamindra G. Laverty, Hailey Pinz, Yaqun Zou, Meghan McAnally, Pomi Yun, Cuixia Tian, Ying Hu, Lucy Feng, Rahul Phadke, Sophia Ceulemans, Pilar Magoulas, Andrew J. Skalsky, Jennifer Friedman, Stephen R. Braddock, Sarah Neuhaus, Denise Malicki, Matthew N. Bainbridge, Shareef Nahas, David Dimmock, Stephen F. Kingsmore, Timothy Lotze, A. Reghan Foley, Francesco Muntoni, Volker Straub, Sandra Donkervoort, Carsten G. Bönnemann

    יצא לאור 2025
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    Artigo
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  16. 16
    <i>ADCY5</i> -related dyskinesia

    <i>ADCY5</i> -related dyskinesia מאת Donghui Chen, Aurélie Méneret, Jennifer Friedman, Olena Korvatska, Alona Gad, Emily Bonkowski, Holly A.F. Stessman, Diane Doummar, Cyril Mignot, Mathieu Anheim, Saunder Bernes, Marie Y. Davis, Nathalie Damon‐Perrière, Bertrand Degos, David Grabli, Domitille Gras, Fuki M. Hisama, Katherine M. Mackenzie, Phillip D. Swanson, Christine Tranchant, Marie Vidailhet, Steven P. Winesett, Oriane Trouillard, Laura M. Amendola, Michael O. Dorschner, Michael D. Weiss, Evan E. Eichler, Ali Torkamani, Emmanuel Roze, Thomas D. Bird, Wendy H. Raskind

    יצא לאור 2015
    קבל טקסט מלא
    Artigo
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  17. 17
    Consensus guidelines for assessing eligibility of pathogenic DNA variants for antisense oligonucleotide treatments

    Consensus guidelines for assessing eligibility of pathogenic DNA variants for antisense oligonucleotide treatments מאת David Cheerie, Margaret Meserve, Danique Beijer, Charu Kaiwar, Logan Newton, Ana Lisa Taylor Tavares, Aubrie Soucy, Emma Sherrill, Stefanie Leonard, Stephan Sanders, Emily J. Blake, Nour Elkhateeb, Aastha Gandhi, Nicole Si Yan Liang, J. Morgan, Anna Verwillow, Jan Verheijen, Andrew C. Giles, Sean Williams, Maya Chopra, Laura V. Croft, Hormos Salimi Dafsari, Alice E. Davidson, Jennifer Friedman, Anne Gregor, Bushra Haque, Rosan Lechner, Kylie Montgomery, Mina Ryten, Emil Schober, Gabriele Siegel, Patricia J. Sullivan, Ella F. Whittle, Bianca Zardetto, Timothy W. Yu, Matthis Synofzik, Annemieke Aartsma‐Rus, Gregory Costain, Marlen C. Lauffer

    יצא לאור 2025
    קבל טקסט מלא
    Revisão
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  18. 18
    Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry

    Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry מאת Louis Viollet, Gustavo Glusman, Kelley J. Murphy, Tara Newcomb, Sandra P. Reyna, Matthew Sweney, B.E. Nelson, Frédérick Andermann, Eva Andermann, Gyula Acsádi, Richard L. Barbano, Candida Brown, Mary E. Brunkow, Harry T. Chugani, Sarah Cheyette, Abigail Collins, Suzanne D. DeBrosse, David J. Galas, Jennifer Friedman, Lee Hood, Chad Huff, Lynn B. Jorde, Mary D. King, Bernie LaSalle, Richard J. Leventer, Aga Lewelt, Mylynda Massart, Mario Merida, Louis J. Ptác̆ek, Jared C. Roach, Robert S. Rust, Francis Renault, Terry D. Sanger, Márcio A Sotero de Menezes, Rachel B. Tennyson, Peter Uldall, Yue Zhang, Mary L. Zupanc, Winnie Xin, Kenneth Silver, Kathryn J. Swoboda

    יצא לאור 2015
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    Artigo
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  19. 19
    De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy

    De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy מאת Frédéric Tran Mau‐Them, Laurent Guibaud, Laurence Duplomb, Boris Keren, Kristin Lindstrom, Isabelle Marey, Fanny Mochel, M. J. van den Boogaard, Renske Oegema, Caroline Nava, Alice Masurel, Thibaud Jouan, Floor E. Jansen, Margaret Au, Agnes H. Chen, M. Cho, Yannis Duffourd, Ekaterina Lozier, Fedor A. Konovalov, Artem Sharkov, С. А. Коростелев, Benoit Urteaga, Patricia Dickson, M. Concepcion Nuñez Pardo de Vera, Julian A. Martínez‐Agosto, Anaïs Begemann, Markus Zweier, Thomas Schmitt‐Mechelke, Anita Rauch, Christophe Philippe, Koen L.I. van Gassen, S. F. Nelson, John M. Graham, Jennifer Friedman, Laurence Faivre, Henry J. Lin, Christel Thauvin‐Robinet, Antonio Vitobello

    יצא לאור 2018
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    Artigo
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  20. 20
    Variants in <i>CLDN5</i> cause a syndrome characterized by seizures, microcephaly and brain calcifications

    Variants in <i>CLDN5</i> cause a syndrome characterized by seizures, microcephaly and brain calcifications מאת Ashish R. Deshwar, Cheryl Cytrynbaum, Harsha Murthy, Jessica Zon, David Chitayat, Jonathan Volpatti, Ruth Newbury‐Ecob, Sian Ellard, Hana Lango Allen, Emily Yu, Ramil R. Noche, Suzi Walker, Stephen W. Scherer, Sonal Mahida, Christopher M. Elitt, Gaël Nicolas, Alice Goldenberg, Pascale Saugier‐Veber, François Lecoquierre, Ivana Dabaj, Hannah Meddaugh, Michael Marble, Kim M. Keppler‐Noreuil, Lucy Drayson, Kristin Barañano, Anna Chassevent, Katie Agre, Pascaline Létard, Frédéric Bilan, Gwenaël Le Guyader, Annie Laquerrière, Keri Ramsey, Lindsay B. Henderson, Lauren Brady, Mark A. Tarnopolsky, Matthew N. Bainbridge, Jennifer Friedman, Yline Capri, Larissa Sampaio de Athayde, Fernando Kok, Juliana Gurgel‐Giannetti, Luiza Ramos, Susan Blaser, James J. Dowling, Rosanna Weksberg

    יצא לאור 2022
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    Artigo
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