Resultados de búsqueda - Kimberly Foss

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  1. 1
    Expanding clinical phenotype in <i>CACNA1C</i> related disorders: From neonatal onset severe epileptic encephalopathy to late‐onset epilepsy

    Expanding clinical phenotype in <i>CACNA1C</i> related disorders: From neonatal onset severe epileptic encephalopathy to late‐onset epilepsy por Xiuhua Bozarth, Jennifer N. Dines, Qian Cong, Ghayda Mirzaa, Kimberly Foss, J. Lawrence Merritt, Jenny Thies, Heather C. Mefford, Edward J. Novotny

    Publicado 2018
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  2. 2
    Barriers and Facilitators for Population Genetic Screening in Healthy Populations: A Systematic Review

    Barriers and Facilitators for Population Genetic Screening in Healthy Populations: A Systematic Review por Emily C. Shen, Swetha Srinivasan, Lauren E. Passero, Caitlin G. Allen, Madison Dixon, Kimberly Foss, Brianna Halliburton, Laura V. Milko, Amelia K. Smit, Rebecca Carlson, Megan C. Roberts

    Publicado 2022
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  3. 3
    The Rise of Population Genomic Screening: Characteristics of Current Programs and the Need for Evidence Regarding Optimal Implementation

    The Rise of Population Genomic Screening: Characteristics of Current Programs and the Need for Evidence Regarding Optimal Implementation por Kimberly Foss, Julianne O’Daniel, Jonathan S. Berg, Sabrina N. Powell, R. Jean Cadigan, Kristine J. Kuczynski, Laura V. Milko, Katherine W. Saylor, Megan C. Roberts, Karen E. Weck, Gail E. Henderson

    Publicado 2022
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  4. 4
    Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders

    Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders por Björn Fischer‐Zirnsak, Lara Segebrecht, Max Schubach, Perrine Charles, Emily Alderman, Kathleen Brown, Maxime Cadieux‐Dion, Tracy Cartwright, Yanmin Chen, Carrie Costin, Sarah Fehr, Keely Fitzgerald, Emily Fleming, Kimberly Foss, Thoa K. Ha, Gabriele Hildebrand, Denise Horn, Shuxi Liu, Elysa J. Marco, Marie McDonald, Kirsty McWalter, Simone Race, Eric T. Rush, Yue Si, Carol Saunders, Anne Slavotinek, Sylvia Stöckler‐Ipsiroglu, Aida Telegrafi, Isabelle Thiffault, Erin Torti, Anne Chun‐Hui Tsai, Xin Wang, Muhammad Sohail Zafar, Boris Keren, Uwe Kornak, Cornelius F. Boerkoel, Ghayda Mirzaa, Nadja Ehmke

    Publicado 2019
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  5. 5
    Germline AGO2 mutations impair RNA interference and human neurological development

    Germline AGO2 mutations impair RNA interference and human neurological development por Davor Lessel, Daniela M. Zeitler, Margot R.F. Reijnders, Andriy Kazantsev, Fatemeh Hassani Nia, Alexander Bartholomäus, Victoria Martens, Astrid Bruckmann, Veronika Graus, Allyn McConkie‐Rosell, Marie McDonald, Bernarda Lozić, Ee‐Shien Tan, Erica H. Gerkes, Jessika Johannsen, Jonas Denecke, Aida Telegrafi, Evelien Zonneveld‐Huijssoon, Henny H. Lemmink, Breana Cham, Tanja Kovačević, Linda Ramsdell, Kimberly Foss, Diana Le Duc, Diana Mitter, Steffen Syrbe, Andreas Merkenschlager, Margje Sinnema, Bianca Panis, Joanna Lazier, Matthew Osmond, Taila Hartley, Jérémie Mortreux, Tiffany Busa, Chantal Missirian, Pankaj Prasun, Sabine Lüttgen, Ilaria Mannucci, Ivana Lessel, Claudia Schob, Stefan Kindler, John Pappas, Rachel Rabin, Marjolein H. Willemsen, Thatjana Gardeitchik, Katharina Löhner, Patrick Rump, Kerith‐Rae Dias, Carey‐Anne Evans, P. Ian Andrews, Tony Roscioli, Han G. Brunner, Chieko Chijiwa, M. E. Suzanne Lewis, Rami Abou Jamra, David A. Dyment, Kym M. Boycott, Alexander P.A. Stegmann, Christian Kubisch, Ene‐Choo Tan, Ghayda Mirzaa, Kirsty McWalter, Tjitske Kleefstra, Rolph Pfundt, Zoya Ignatova, Gunter Meister, Hans‐Jürgen Kreienkamp

    Publicado 2020
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  6. 6
    De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability

    De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability por Sébastien Küry, Geeske M. van Woerden, Thomas Besnard, Martina Proietti Onori, Xénia Latypova, Meghan C. Towne, Megan T. Cho, Trine Prescott, Melissa A. Ploeg, Stephan Sanders, Holly A.F. Stessman, Aurora Pujol, Ben Distel, Laurie Robak, Jonathan A. Bernstein, Anne‐Sophie Denommé‐Pichon, Gaëtan Lesca, Elizabeth A. Sellars, Jonathan Berg, Wilfrid Carré, Øyvind L. Busk, Bregje W.M. van Bon, Jeff L. Waugh, Matthew A. Deardorff, George Hoganson, Katherine B. Bosanko, Diana Johnson, Tabib Dabir, Øystein L. Holla, Ajoy Sarkar, Kristian Tveten, Julitta de Bellescize, Geir J. Braathen, Paulien A. Terhal, Dorothy K. Grange, Arie van Haeringen, Christina Lam, Ghayda Mirzaa, Jennifer Burton, Elizabeth Bhoj, Jessica Douglas, Avni Santani, Addie I. Nesbitt, Katherine L. Helbig, Marisa V. Andrews, Amber Begtrup, Sha Tang, Koen L.I. van Gassen, Jane Juusola, Kimberly Foss, Gregory M. Enns, Ute Moog, Katrin Hinderhofer, Nagarajan Paramasivam, Sharyn A. Lincoln, Brandon H. Kusako, Pierre Lindenbaum, Éric Charpentier, C. Nowak, Elouan Chérot, Thomas Simonet, Claudia Ruivenkamp, Sihoun Hahn, Donna M. Brown, Fan Xia, Sébastien Schmitt, Wallid Deb, Dominique Bonneau, Mathilde Nizon, Delphine Quinquis, Jamel Chelly, Gabrielle Rudolf, Damien Sanlaville, Philippe Parent, Brigitte Gilbert‐Dussardier, Annick Toutain, V. Reid Sutton, Jenny Thies, Lisenka E.L.M. Peart-Vissers, Pierre Boisseau, Marie Vincent, Andreas M. Grabrucker, Christèle Dubourg, Wen‐Hann Tan, Nienke E. Verbeek, Martin Granzow, Gijs W.E. Santen, Jay Shendure, Bertrand Isidor, Laurent Pasquier, Richard Redon, Yaping Yang, Matthew W. State, Tjitske Kleefstra, Benjamin Cogné, Slavé Petrovski, Kyle Retterer, Evan E. Eichler, Jill A. Rosenfeld, Pankaj B. Agrawal

    Publicado 2017
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