檢索結果 - Deepti Domingo
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HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain 由 Lachlan A. Jolly, Lam Son Nguyen, Deepti Domingo, Yongsheng Sun, Simon C. Barry, Miroslava Hančárová, Pavlína Plevová, Markéta Vlčková, Markéta Havlovičová, Vera M. Kalscheuer, Claudio Graziano, Tommaso Pippucci, Elena Bonora, Zdeněk Sedláček, Jozef Gécz
出版 2015Artigo -
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Inhibition of Upf2-Dependent Nonsense-Mediated Decay Leads to Behavioral and Neurophysiological Abnormalities by Activating the Immune Response 由 Jennifer L. Johnson, Loredana Elena Stoica, Yuwei Liu, Ping Zhu, Abhisek Bhattacharya, Shelly A. Buffington, Redwan Huq, N. Tony Eissa, Ola Larsson, Bo Porse, Deepti Domingo, Urwah Nawaz, Renée Carroll, Lachlan A. Jolly, Tom S. Scerri, Hyung‐Goo Kim, Amanda Brignell, Matthew Coleman, Ruth Braden, Usha Kini, Victoria E. Jackson, Anne Baxter, Melanie Bahlo, Ingrid E. Scheffer, David J. Amor, Michael S. Hildebrand, Penelope E. Bonnen, Christine Beeton, Jozef Gécz, Angela Morgan, Mauro Costa‐Mattioli
出版 2019Artigo -
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De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations 由 Margot R.F. Reijnders, Vasilios Zachariadis, Brooke Latour, Lachlan A. Jolly, Grazia M.S. Mancini, Rolph Pfundt, Ka Man Wu, Conny M.A. van Ravenswaaij‐Arts, Hermine E. Veenstra‐Knol, Britt‐Marie Anderlid, Stephen A. Wood, Sau Wai Cheung, Angela Barnicoat, Frank J. Probst, Pilar Magoulas, Alice S. Brooks, Helena Malmgren, Arja Harila‐Saari, Carlo Marcelis, Maaike Vreeburg, Emma Hobson, V. Reid Sutton, Zornitza Stark, Julie Vogt, Nicola Cooper, Jiin Ying Lim, Sue Price, Angeline Lai, Deepti Domingo, Bruno Reversade, Jozef Gécz, Christian Gilissen, Han G. Brunner, Usha Kini, Ronald Roepman, Ann Nordgren, Tjitske Kleefstra
出版 2016Artigo -
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Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies 由 Hanyin Cheng, Avinash V. Dharmadhikari, Sylvia Varland, Nan Ma, Deepti Domingo, Robert Kleyner, Alan F. Rope, Margaret S. Yoon, Asbjørg Stray‐Pedersen, Jennifer E. Posey, Sarah R. Crews, Mohammad K. Eldomery, Zeynep Coban‐Akdemir, Andrea M. Lewis, V. Reid Sutton, Jill A. Rosenfeld, Erin Conboy, Katherine Agre, Fan Xia, Magdalena Walkiewicz, Mauro Longoni, Frances A. High, Marjon A. van Slegtenhorst, Grazia M.S. Mancini, Candice R. Finnila, Arie van Haeringen, Nicolette S. den Hollander, Claudia Ruivenkamp, Sakkubai Naidu, Sonal Mahida, Elizabeth E. Palmer, Lucinda Murray, Derek Lim, Parul Jayakar, Michael Parker, Stefania Giusto, Emanuela Stracuzzi, Corrado Romano, Jennifer S. Beighley, Raphael Bernier, Sébastien Küry, Mathilde Nizon, Mark Corbett, Marie Shaw, Alison Gardner, Christopher Barnett, Ruth Armstrong, Karin S. Kassahn, Anke Van Dijck, Geert Vandeweyer, Tjitske Kleefstra, Jolanda Schieving, Marjolijn J. Jongmans, Bert B.A. de Vries, Rolph Pfundt, Bronwyn Kerr, Samantha K. Rojas, Kym M. Boycott, Richard Person, Rebecca Willaert, Evan E. Eichler, R. Frank Kooy, Yaping Yang, Joseph C. Wu, James R. Lupski, Thomas Arnesen, Gregory M. Cooper, Wendy K. Chung, Jozef Gécz, Holly A.F. Stessman, Linyan Meng, Gholson J. Lyon
出版 2018Artigo -
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Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling 由 Brett V. Johnson, Raman Kumar, Sabrina Oishi, Suzy Alexander, Maria Kasherman, Michelle Sanchez Vega, Atma M. Ivancevic, Alison Gardner, Deepti Domingo, Mark Corbett, Euan Parnell, Sehyoun Yoon, Tracey Oh, Matthew A. Lines, Henrietta Lefroy, Usha Kini, Margot Van Allen, Sabine Grønborg, Sandra Mercier, Sébastien Küry, Stéphane Bézieau, Laurent Pasquier, Martine Raynaud, Alexandra Afenjar, Thierry Billette de Villemeur, Boris Keren, Julie Désir, Lionel Van Maldergem, Martina Marangoni, Nicola Dikow, David A. Koolen, Peter M. VanHasselt, Marjan M. Weiss, Petra Zwijnenburg, Joaquim Sá, C Reis, Carlos López-Otı́n, Olaya Santiago‐Fernández, Alberto Fernández‐Jaén, Anita Rauch, Katharina Steindl, Pascal Joset, Amy Goldstein, Suneeta Madan‐Khetarpal, Elena Infante, Elaine H. Zackai, Carey McDougall, Vinodh Narayanan, Keri Ramsey, Saadet Mercimek‐Andrews, Loren D.M. Peña, Vandana Shashi, Kelly Schoch, Jennifer A. Sullivan, Filippo Pinto e Vairo, Pavel N. Pichurin, Sarah Ewing, Sarah Barnett, Eric W. Klee, Matthew Perry, Mary Kay Koenig, Catherine E. Keegan, Jane L. Schuette, Stephanie Asher, Yezmin Perilla‐Young, Laurie D. Smith, Jill A. Rosenfeld, Elizabeth Bhoj, Paige Kaplan, Dong Li, Renske Oegema, Ellen van Binsbergen, Bert van der Zwaag, Marie Falkenberg Smeland, Ioana Cutcutache, Matthew Page, Martin Armstrong, Angela E. Lin, Marcie Steeves, Nicolette S. den Hollander, Mariëtte J.V. Hoffer, Margot R.F. Reijnders, Serwet Demirdas, Daniel C. Koboldt, Dennis Bartholomew, Theresa Mihalic Mosher, Scott E. Hickey, Christine Shieh, Pedro A. Sanchez‐Lara, John M. Graham, Kamer Tezcan, G. Bradley Schaefer, Noelle R. Danylchuk, Alexander Asamoah, Kelly E. Jackson, Naomi Yachelevich, Margaret Au, Luis A. Pérez‐Jurado, Tjitske Kleefstra, Peter Penzes
出版 2019Artigo
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