Torthaí cuardaigh - Keith K. Vaux

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  1. 1
    Neural responses to affective speech, including motherese, map onto clinical and social eye tracking profiles in toddlers with ASD

    Neural responses to affective speech, including motherese, map onto clinical and social eye tracking profiles in toddlers with ASD de réir Yaqiong Xiao, Teresa H. Wen, Lauren Kupis, Lisa T. Eyler, Disha Goel, Keith K. Vaux, Michael Lombardo, Nathan E. Lewis, Karen Pierce, Eric Courchesne

    Foilsithe / Cruthaithe 2022
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  2. 2
    Birth outcomes in women who have taken adalimumab in pregnancy: A prospective cohort study

    Birth outcomes in women who have taken adalimumab in pregnancy: A prospective cohort study de réir Christina Chambers, Diana L. Johnson, Ronghui Xu, Yunjun Luo, Janina Lopez-Jimenez, Margaret P Adam, Stephen R. Braddock, Luther K. Robinson, Keith K. Vaux, Kenneth Lyons Jones

    Foilsithe / Cruthaithe 2019
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  3. 3
    Evidence-Based Recommendations for the Diagnosis and Treatment of Pediatric Acne

    Evidence-Based Recommendations for the Diagnosis and Treatment of Pediatric Acne de réir Lawrence F. Eichenfield, Andrew C. Krakowski, Caroline D. S. Piggott, J.Q. Del Rosso, Hilary Baldwin, Sheila Fallon Friedlander, Moise L. Levy, Anne W. Lucky, Anthony J. Mancini, Seth J. Orlow, Albert C. Yan, Keith K. Vaux, Guy Webster, Andrea L. Zaenglein, Diane Thiboutot

    Foilsithe / Cruthaithe 2013
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  4. 4
    A phenotypic spectrum of autism is attributable to the combined effects of rare variants, polygenic risk and sex

    A phenotypic spectrum of autism is attributable to the combined effects of rare variants, polygenic risk and sex de réir Danny Antaki, James P. Guevara, Adam X. Maihofer, Marieke Klein, Madhusudan Gujral, Jakob Grove, Caitlin E. Carey, Oanh Hong, María J. Arranz, Amaia Hervás, Christina Corsello, Keith K. Vaux, Alysson R. Muotri, Lilia M. Iakoucheva, Eric Courchesne, Karen Pierce, Joseph G. Gleeson, Elise Robinson, Caroline M. Nievergelt, Jonathan Sebat

    Foilsithe / Cruthaithe 2022
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  5. 5
    Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome

    Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome de réir Alicia Guemez‐Gamboa, Long N. Nguyen, Hongbo Yang, Maha S. Zaki, Majdi Kara, Tawfeg Ben‐Omran, Naiara Akizu, Rasim Özgür Rosti, Başak Rosti, Eric Scott, Jana Schroth, Brett Copeland, Keith K. Vaux, Amaury Cazenave‐Gassiot, Debra Q Y Quek, Bernice H. Wong, Bryan C. Tan, Markus R. Wenk, Murat Günel, Stacey Gabriel, C. Neil, David L. Silver, Joseph G. Gleeson

    Foilsithe / Cruthaithe 2015
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  6. 6
    AMPD2 Regulates GTP Synthesis and Is Mutated in a Potentially Treatable Neurodegenerative Brainstem Disorder

    AMPD2 Regulates GTP Synthesis and Is Mutated in a Potentially Treatable Neurodegenerative Brainstem Disorder de réir Naiara Akizu, Vincent Cantagrel, Jana Schroth, Na Cai, Keith K. Vaux, Douglas McCloskey, Robert K. Naviaux, Jeremy Van Vleet, Ali G. Fenstermaker, Jennifer L. Silhavy, Judith Scheliga, Keiko Toyama, Hiroko Morisaki, Fatma Müjgan Sönmez, Figen Celep, Azza Oraby, Maha S. Zaki, Raidah Albaradie, Eissa Faqeih, Mohammed A. Saleh, Emily Spencer, Rasim Özgür Rosti, Eric Scott, Elizabeth Nickerson, Stacey Gabriel, Takayuki Morisaki, Edward W. Holmes, Joseph G. Gleeson

    Foilsithe / Cruthaithe 2013
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  7. 7
    Prevalence of Fetal Alcohol Spectrum Disorders in 4 US Communities

    Prevalence of Fetal Alcohol Spectrum Disorders in 4 US Communities de réir Philip A. May, Christina Chambers, Wendy O. Kalberg, Jennifer A. Zellner, Haruna S. Feldman, David Buckley, David Kopald, Julie M. Hasken, Ronghui Xu, Gordon Honerkamp‐Smith, Howard Taras, Melanie A. Manning, Luther K. Robinson, Margaret P Adam, Omar Abdul‐Rahman, Keith K. Vaux, Tamison Jewett, Amy Elliott, Julie A. Kable, Natacha Akshoomoff, Daniel E. Falk, Judith A. Arroyo, Dale Hereld, Edward P. Riley, Michael E. Charness, Claire D. Coles, Kenneth R. Warren, Kenneth Lyons Jones, H. Eugene Hoyme

    Foilsithe / Cruthaithe 2018
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  8. 8
    Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused byRASA1 mutations

    Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused byRASA1 mutations de réir Nicole Revençu, Laurence M. Boon, John B. Mulliken, O Enjolras, Maria Cordisco, Patricia E. Burrows, Philippe Clapuyt, Frank Hammer, Josée Dubois, Eulàlia Baselga, Francesco Brancati, Robin Carder, José Miguel Ceballos Quintal, Bruno Dallapiccola, Gayle Fischer, Ilona J. Frieden, Maria C. Garzón, John Harper, Jennifer Johnson-Patel, Christine Labrèze, Loreto Martorell, Harriet J. Paltiel, Annette Pohl, Julie Prendiville, I. Quéré, Dawn H. Siegel, Enza Maria Valente, Annet van Hagen, Liselot van Hest, Keith K. Vaux, Asunción Vicente, Lisa Weibel, David Chitayat, Miikka Vikkula

    Foilsithe / Cruthaithe 2008
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  9. 9
    Frequency and Complexity of De Novo Structural Mutation in Autism

    Frequency and Complexity of De Novo Structural Mutation in Autism de réir William M. Brandler, Danny Antaki, Madhusudan Gujral, Amina Noor, Gabriel Rosanio, Timothy R. Chapman, Daniel J. Barrera, Guan Ning Lin, Dheeraj Malhotra, Amanda C. Watts, Lawrence C. Wong, Jasper A. Estabillo, Therese Gadomski, Oanh Hong, Karin V. Fuentes Fajardo, Abhishek Bhandari, Renius Owen, Michael W. Baughn, Jeffrey Yuan, Terry Solomon, Alexandra G Moyzis, Michelle S. Maile, Stephan Sanders, Gail Reiner, Keith K. Vaux, Charles M. Strom, Kang Zhang, Alysson R. Muotri, Natacha Akshoomoff, Suzanne M. Leal, Karen Pierce, Eric Courchesne, Lilia M. Iakoucheva, Christina Corsello, Jonathan Sebat

    Foilsithe / Cruthaithe 2016
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  10. 10
    Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome

    Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome de réir Shereen G. Ghosh, Kerstin Becker, He Huang, Tracy Dixon‐Salazar, Guoliang Chai, Vincenzo Salpietro, Lihadh Al‐Gazali, Quinten Waisfisz, Haicui Wang, Keith K. Vaux, Valentina Stanley, Andreea Manole, Uğur Akpulat, Marjan M. Weiss, Stéphanie Efthymiou, Michael G. Hanna, Carlo Minetti, Pasquale Striano, Livia Pisciotta, Elisa De Grandis, Janine Altmüller, Lisa Weixler, Peter Nürnberg, Hölger Thiele, Uluç Yiş, Tuncay Derya Okur, Ayşe Polat, Nafise Amiri, Mohammad Doosti, Ehsan Ghayoor Karimani, Mehran Beiraghi Toosi, Gabriel Haddad, Mert Karakaya, Brunhilde Wirth, Johanna M. van Hagen, Nicole I. Wolf, Reza Maroofian, Henry Houlden, Sebahattin Çırak, Joseph G. Gleeson

    Foilsithe / Cruthaithe 2018
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  11. 11
    Paternally inherited cis-regulatory structural variants are associated with autism

    Paternally inherited cis-regulatory structural variants are associated with autism de réir William M. Brandler, Danny Antaki, Madhusudan Gujral, Morgan L. Kleiber, J. Andrew Whitney, Michelle S. Maile, Oanh Hong, Timothy R. Chapman, Shirley Tan, Prateek Tandon, Timothy Pang, Shih C. Tang, Keith K. Vaux, Yanlian Yang, Eoghan Harrington, Sissel Juul, Daniel J. Turner, Bhooma Thiruvahindrapuram, Gaganjot Kaur, Zhuozhi Wang, Stephen F. Kingsmore, Joseph G. Gleeson, Denis Bisson, Boyko Kakaradov, Amalio Telenti, J. Craig Venter, Roser Corominas, Claudio Toma, Bru Cormand, Isabel Rueda, Silvina Guijarro, Karen Messer, Caroline M. Nievergelt, María J. Arranz, Eric Courchesne, Karen Pierce, Alysson R. Muotri, Lilia M. Iakoucheva, Amaia Hervás, Stephen W. Scherer, Christina Corsello, Jonathan Sebat

    Foilsithe / Cruthaithe 2018
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  12. 12
    Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction

    Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction de réir Naiara Akizu, Vincent Cantagrel, Maha S. Zaki, Lihadh Al‐Gazali, Xin Wang, Rasim Özgür Rosti, Esra Dikoglu, A. Gélot, Başak Rosti, Keith K. Vaux, Eric Scott, Jennifer L. Silhavy, Jana Schroth, Brett Copeland, Ashleigh E. Schaffer, Philip L.S.M. Gordts, Jeffrey D. Esko, Matthew D. Buschman, Seth J. Field, Gennaro Napolitano, Ghada M. H. Abdel‐Salam, Rıza Köksal Özgül, Mahmut Şamil Sağıroğlu, Matloob Azam, Samira Ismail, Mona Aglan, Laila Selim, Iman G. Mahmoud, Sawsan Abdel-Hadi, Amera El Badawy, Abdelrahim A. Sadek, Faezeh Mojahedi, Hülya Kayserili, Amira Masri, Lailá Bastaki, Samia A. Temtamy, Ulrich Müller, Isabelle Desguerre, Jean‐Laurent Casanova, Ali Dursun, Murat Günel, Stacey Gabriel, Pascale de Lonlay, Joseph G. Gleeson

    Foilsithe / Cruthaithe 2015
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  13. 13
    Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome

    Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome de réir Susanne Roosing, Matan Hofree, Sehyun Kim, Eric Scott, Brett Copeland, Marta Romani, Jennifer L. Silhavy, Rasim Özgür Rosti, Jana Schroth, Tommaso Mazza, Elide Miccinilli, Maha S. Zaki, Kathryn J. Swoboda, Joanne Milisa-Drautz, William B. Dobyns, Mohamad A. Mikati, Faruk İncecik, Matloob Azam, Renato Borgatti, Romina Romaniello, Rose‐Mary Boustany, Carol L. Clericuzio, Stefano D’Arrigo, Petter Strømme, Eugen Boltshauser, Franco Stanzial, Marisol Mirabelli-Badenier, Isabella Moroni, Enrico Bertini, Francesco Emma, Maja Steinlin, Friedhelm Hildebrandt, Colin A. Johnson, Michael Freilinger, Keith K. Vaux, Stacey Gabriel, Pedro Aza‐Blanc, Susanne Heynen‐Genel, Trey Ideker, Brian David Dynlacht, Ji Eun Lee, Enza Maria Valente, Joon Kim, Joseph G. Gleeson

    Foilsithe / Cruthaithe 2015
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  14. 14
    <i>FOXP1</i>-related intellectual disability syndrome: a recognisable entity

    <i>FOXP1</i>-related intellectual disability syndrome: a recognisable entity de réir Ilse Meerschaut, Daniel Rochefort, Nicole Revençu, Justine Pètre, Christina Corsello, Guy A. Rouleau, Fadi F. Hamdan, Jacques L. Michaud, Jenny Morton, Jessica A. Radley, Nicola Ragge, Sixto García‐Miñaúr, Pablo Lapunzina, María Palomares‐Bralo, María Ángeles Mori, Stéphanie Moortgat, Valérie Benoît, Sandrine Mary, Nele Bockaert, Ann Oostra, Olivier Vanakker, Milen Velinov, Thomy de Ravel, Djalila Mekahli, Jonathan Sebat, Keith K. Vaux, Nataliya Di Donato, Andrea Hanson‐Kahn, Louanne Hudgins, Bruno Dallapiccola, Antonio Novelli, Luigi Tarani, Joris Andrieux, Michael Parker, Katherine Neas, Berten Ceulemans, An-Sofie Schoonjans, Darina Prchalová, Markéta Havlovičová, Miroslava Hančárová, Magdalena Budişteanu, Annelies Dheedene, Björn Menten, Patrick A. Dion, Damien Lederer, Bert Callewaert

    Foilsithe / Cruthaithe 2017
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  15. 15
    Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders

    Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders de réir Gaia Novarino, Ali G. Fenstermaker, Maha S. Zaki, Matan Hofree, Jennifer L. Silhavy, Andrew Heiberg, Mostafa Abdellateef, Başak Rosti, Eric Scott, Lobna Mansour, Amira Masri, Hülya Kayserili, Jumana Y. Al‐Aama, Ghada M. H. Abdel‐Salam, Ariana Karminejad, Majdi Kara, Bülent Kara, Babak Bozorgmehri, Tawfeg Ben‐Omran, Faezeh Mojahedi, Iman G. Mahmoud, Naïma Bouslam, Ahmed Bouhouche, Ali Benomar, Sylvain Hanein, Laure Raymond, Sylvie Forlani, Massimo Mascaro, Laila Selim, Nabil Shehata, Nasir Al‐Allawi, Parayil Sankaran Bindu, Matloob Azam, Murat Günel, Ahmet Okay Çağlayan, Kaya Bilgüvar, Aslıhan Tolun, Mahmoud Y. Issa, Jana Schroth, Emily Spencer, Rasim Özgür Rosti, Naiara Akizu, Keith K. Vaux, Anide Johansen, Alice A. Koh, Hisham Megahed, Alexandra Dürr, Alexis Brice, Giovanni Stévanin, Stacy Gabriel, Trey Ideker, Joseph G. Gleeson

    Foilsithe / Cruthaithe 2014
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