Výsledky vyhledávání - Natalie Lippa

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  1. 1
    Genetic testing and counseling for the unexplained epilepsies: An evidence‐based practice guideline of the National Society of Genetic Counselors

    Genetic testing and counseling for the unexplained epilepsies: An evidence‐based practice guideline of the National Society of Genetic Counselors Autor Lacey Smith, Jennifer Malinowski, Sophia Ceulemans, Katlin Peck, Nephi Walton, Beth Rosen Sheidley, Natalie Lippa

    Vydáno 2022
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    Revisão
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  2. 2
    Successful within-patient dose escalation of olipudase alfa in acid sphingomyelinase deficiency

    Successful within-patient dose escalation of olipudase alfa in acid sphingomyelinase deficiency Autor Melissa Wasserstein, Simon Jones, Handrean Soran, George A. Díaz, Natalie Lippa, Beth L. Thurberg, Kerry Culm-Merdek, Elias Shamiyeh, Haig Inguilizian, Gerald F. Cox, Ana Cristina Puga

    Vydáno 2015
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    Artigo
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  3. 3
    Causal Genetic Variants in Stillbirth

    Causal Genetic Variants in Stillbirth Autor Kate E. Stanley, Jessica L. Giordano, Vanessa Thorsten, Christie M. Buchovecky, Amanda Thomas‐Wilson, Mythily Ganapathi, Jun Liao, Avinash V. Dharmadhikari, Anya Revah‐Politi, Michelle Ernst, Natalie Lippa, Halie Holmes, Gundula Povysil, Joseph Hostyk, Corette B. Parker, Robert L. Goldenberg, George R. Saade, Donald J. Dudley, Halit Pınar, Carol J. Hogue, Uma M. Reddy, Robert M. Silver, Vimla S. Aggarwal, Andrew S. Allen, Ronald J. Wapner, David B. Goldstein

    Vydáno 2020
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  4. 4
    De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures

    De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures Autor Candace T. Myers, Nicholas Stong, Emily Mountier, Katherine L. Helbig, Saskia Freytag, Joseph Sullivan, Bruria Ben Zeev, Andreea Nissenkorn, Michal Tzadok, Gali Heimer, Deepali N. Shinde, Arezoo Rezazadeh, Brigid M. Regan, Karen Oliver, Michelle Ernst, Natalie Lippa, Maureen Mulhern, Zhong Ren, Annapurna Poduri, Danielle M. Andrade, Lynne M. Bird, Melanie Bahlo, Samuel F. Berkovic, Daniel H. Lowenstein, Ingrid E. Scheffer, Lynette G. Sadleir, David B. Goldstein, Heather C. Mefford, Erin L. Heinzen

    Vydáno 2017
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  5. 5
    <scp><i>SCN3A</i></scp>‐Related Neurodevelopmental Disorder: A Spectrum of Epilepsy and Brain Malformation

    <scp><i>SCN3A</i></scp>‐Related Neurodevelopmental Disorder: A Spectrum of Epilepsy and Brain Malformation Autor Tariq Zaman, Katherine L. Helbig, Jérôme Clatot, Christopher H. Thompson, Seok Kyu Kang, Katrien Stouffs, Anna Jansen, Lieve Verstraete, Adeline Jacquinet, Elena Parrini, Renzo Guerrini, Yuh Fujiwara, Satoko Miyatake, Bruria Ben‐Zeev, Haim Bassan, Orit Reish, Daphna Marom, Natalie Hauser, Thuy‐Anh Vu, Sally Ackermann, Careni Spencer, Natalie Lippa, Shraddha Srinivasan, Agnieszka Charzewska, Dorota Hoffman‐Zacharska, David Fitzpatrick, Victoria Harrison, Pradeep Vasudevan, Shelagh Joss, Daniela T. Pilz, Katherine A. Fawcett, Ingo Helbig, Naomichi Matsumoto, Jennifer A. Kearney, Andrew E. Fry, Ethan M. Goldberg

    Vydáno 2020
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  6. 6
    <i>NBEA</i>: Developmental disease gene with early generalized epilepsy phenotypes

    <i>NBEA</i>: Developmental disease gene with early generalized epilepsy phenotypes Autor Maureen Mulhern, Constance T. R. M. Stumpel, Nicholas Stong, Han G. Brunner, Louise Bier, Natalie Lippa, James J. Riviello, Rob P.W. Rouhl, Marlies Kempers, Rolph Pfundt, Alexander P.A. Stegmann, Mary K. Kukolich, Aida Telegrafi, Anna Lehman, Elena Lopez‐Rangel, Nada Houcinat, Magalie Barth, Nicolette S. den Hollander, Mariette J. V. Hoffer, Sarah Weckhuysen, Jolien Roovers, Tania Djémié, Diana Barca, Berten Ceulemans, Dana Craiu, Johannes R. Lemke, Christian Korff, Heather C. Mefford, Candace T. Meyers, Zsuzsanna Siegler, Susan M. Hiatt, Gregory M. Cooper, E. Martina Bebin, Lot Snijders Blok, Hermine E. Veenstra‐Knol, Evan H. Baugh, Eva H. Brilstra, Catharina M.L. Volker‐Touw, Ellen van Binsbergen, Anya Revah‐Politi, Elaine M. Pereira, Danielle McBrian, Mathilde Pacault, Bertrand Isidor, Cédric Le Caignec, Brigitte Gilbert‐Dussardier, Frédéric Bilan, Erin L. Heinzen, David B. Goldstein, Servi J.C. Stevens, Tristan T. Sands

    Vydáno 2018
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