Zoekresultaten - Stephanie Bielas

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  1. 1
    Off-Target Effect of doublecortin Family shRNA on Neuronal Migration Associated with Endogenous MicroRNA Dysregulation

    Off-Target Effect of doublecortin Family shRNA on Neuronal Migration Associated with Endogenous MicroRNA Dysregulation door Seung Tae Baek, Géraldine Kerjan, Stephanie Bielas, Ji Eun Lee, Ali G. Fenstermaker, Gaia Novarino, Joseph G. Gleeson

    Gepubliceerd in 2014
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  2. 2
    Spinophilin Facilitates Dephosphorylation of Doublecortin by PP1 to Mediate Microtubule Bundling at the Axonal Wrist

    Spinophilin Facilitates Dephosphorylation of Doublecortin by PP1 to Mediate Microtubule Bundling at the Axonal Wrist door Stephanie Bielas, Finley F. Serneo, Magdalena Chechlacz, Thomas J. Deerinck, Guy Perkins, Patrick B. Allen, Mark H. Ellisman, Joseph G. Gleeson

    Gepubliceerd in 2007
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  3. 3
    CITK modulates BRCA1 recruitment at DNA double strand breaks sites through HDAC6

    CITK modulates BRCA1 recruitment at DNA double strand breaks sites through HDAC6 door Giorgia Iegiani, Gianmarco Pallavicini, Alex Pezzotta, Alessia Brix, Alessia Ferraro, Marta Gai, Enrica Boda, Stephanie Bielas, Anna Pistocchi, Ferdinando Di Cunto

    Gepubliceerd in 2025
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  4. 4
    <i>De novo</i>dominant<i>ASXL3</i>mutations alter H2A deubiquitination and transcription in Bainbridge–Ropers syndrome

    <i>De novo</i>dominant<i>ASXL3</i>mutations alter H2A deubiquitination and transcription in Bainbridge–Ropers syndrome door Anshika Srivastava, K.C. Ritesh, Yao-Chang Tsan, Rosy Liao, Fengyun Su, Xuhong Cao, Mark C. Hannibal, Catherine E. Keegan, Arul M. Chinnaiyan, Donna M. Martin, Stephanie Bielas

    Gepubliceerd in 2015
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  5. 5
    Genetic analysis of CHARGE syndrome identifies overlapping molecular biology

    Genetic analysis of CHARGE syndrome identifies overlapping molecular biology door Amanda Moccia, Anshika Srivastava, Jennifer Skidmore, John Bernat, Marsha M. Wheeler, Jessica X. Chong, Deborah A. Nickerson, Michael J. Bamshad, Margaret A. Hefner, Donna M. Martin, Stephanie Bielas

    Gepubliceerd in 2018
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  6. 6
    Mutations in Citron Kinase Cause Recessive Microlissencephaly with Multinucleated Neurons

    Mutations in Citron Kinase Cause Recessive Microlissencephaly with Multinucleated Neurons door Brian Harding, Amanda Moccia, Séverine Drunat, Omar Soukarieh, Hélène Tubeuf, Lyn S. Chitty, Alain Verloès, Pierre Gressèns, Vincent El Ghouzzi, Sylvie Joriot, Ferdinando Di Cunto, Alexandra Martins, Sandrine Passemard, Stephanie Bielas

    Gepubliceerd in 2016
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  7. 7
    Quiescence enables unrestricted cell fate in naive embryonic stem cells

    Quiescence enables unrestricted cell fate in naive embryonic stem cells door Le Tran Phuc Khoa, Wentao Yang, Mengrou Shan, Li Zhang, Fengbiao Mao, Bo Zhou, Qiang Li, Rebecca M. Malcore, Clair Harris, Lili Zhao, Rajesh C. Rao, Shigeki Iwase, Sundeep Kalantry, Stephanie Bielas, Costas A. Lyssiotis, Yali Dou

    Gepubliceerd in 2024
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  8. 8
    A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early‐onset monogenic disorders in Indians

    A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early‐onset monogenic disorders in Indians door Neethukrishna Kausthubham, Anju Shukla, Neerja Gupta, Gandham SriLakshmi Bhavani, Samarth Kulshrestha, Aneek Das Bhowmik, Amita Moirangthem, Sunita Bijarnia‐Mahay, Madhulika Kabra, Ratna Dua Puri, Kausik Mandal, Ishwar C. Verma, Stephanie Bielas, Shubha R. Phadke, Ashwin Dalal, Katta M. Girisha

    Gepubliceerd in 2021
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  9. 9
    Histone Acetyltransferase MOF Blocks Acquisition of Quiescence in Ground-State ESCs through Activating Fatty Acid Oxidation

    Histone Acetyltransferase MOF Blocks Acquisition of Quiescence in Ground-State ESCs through Activating Fatty Acid Oxidation door Le Tran Phuc Khoa, Yao-Chang Tsan, Fengbiao Mao, Daniel M. Kremer, Peter Sajjakulnukit, Li Zhang, Bo Zhou, Xin Tong, Natarajan V. Bhanu, Chunaram Choudhary, Benjamin A. García, Lei Yin, Gary D. Smith, Thomas L. Saunders, Stephanie Bielas, Costas A. Lyssiotis, Yali Dou

    Gepubliceerd in 2020
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  10. 10
    Biallelic Mutations in Citron Kinase Link Mitotic Cytokinesis to Human Primary Microcephaly

    Biallelic Mutations in Citron Kinase Link Mitotic Cytokinesis to Human Primary Microcephaly door Hongda Li, Stephanie Bielas, Maha S. Zaki, Samira Ismail, Dorit Farfara, Kyongmi Um, Rasim Özgür Rosti, Eric Scott, Shu Tu, C. Neil, Stacey B. Gabriel, Emine Zeynep Erson-Omay, A. Gulhan Ercan‐Sencicek, Katsuhito Yasuno, Ahmet Okay Çağlayan, Hande Kaymakçalan, Barış Ekici, Kaya Bilgüvar, Murat Günel, Joseph G. Gleeson

    Gepubliceerd in 2016
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  11. 11
    Photosensitivity and type I IFN responses in cutaneous lupus are driven by epidermal-derived interferon kappa

    Photosensitivity and type I IFN responses in cutaneous lupus are driven by epidermal-derived interferon kappa door Mrinal K. Sarkar, Grace A. Hile, Lam C. Tsoi, Xianying Xing, Jianhua Liu, Yun Liang, Céline C. Berthier, William R. Swindell, Matthew T. Patrick, Shuai Shao, Pei‐Suen Tsou, Ranjitha Uppala, Maria A. Beamer, Anshika Srivastava, Stephanie Bielas, Paul W. Harms, Spiro Getsios, James T. Elder, John J. Voorhees, Jóhann E. Guðjónsson, J. Michelle Kahlenberg

    Gepubliceerd in 2018
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  12. 12
    Mutations in the Cilia Gene ARL13B Lead to the Classical Form of Joubert Syndrome

    Mutations in the Cilia Gene ARL13B Lead to the Classical Form of Joubert Syndrome door Vincent Cantagrel, Jennifer L. Silhavy, Stephanie Bielas, Dominika Swistun, Sarah Marsh, Julien Bertrand, Sophie Audollent, Tania Attié‐Bitach, Kenton R. Holden, William B. Dobyns, David Traver, Lihadh Al‐Gazali, Bassam R. Ali, Tom H. Lindner, Tamara Caspary, Edgar A. Otto, Friedhelm Hildebrandt, Ian Glass, Clare V. Logan, Colin A. Johnson, Christopher Bennett, Francesco Brancati, Enza Maria Valente, C. Geoffrey Woods, Joseph G. Gleeson

    Gepubliceerd in 2008
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  13. 13
    Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies

    Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies door Stephanie Bielas, Jennifer L. Silhavy, Francesco Brancati, Marina V. Kisseleva, Lihadh Al‐Gazali, László Sztriha, Riad Bayoumi, Maha S. Zaki, Alice Abdel Aleem, Rasim Özgür Rosti, Hülya Kayserili, Dominika Swistun, Lesley C. Scott, Enrico Bertini, Eugen Boltshauser, Elisa Fazzi, Lorena Travaglini, Seth J. Field, Stéphanie Gayral, Monique Jacoby, Stéphane Schurmans, Bruno Dallapiccola, Philip W. Majerus, Enza Maria Valente, Joseph G. Gleeson

    Gepubliceerd in 2009
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  14. 14
    SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder

    SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder door Vincent Cantagrel, Dirk J. Lefeber, Bobby G. Ng, Ziqiang Guan, Jennifer L. Silhavy, Stephanie Bielas, Ludwig Lehle, Hans Hombauer, Maciej Adamowicz, Ewa Świeżewska, Arjan Pm de Brouwer, Peter Blümel, Jolanta Sykut‐Cegielska, Scott Houliston, Dominika Swistun, Bassam R. Ali, William B. Dobyns, Dusica Babovic‐Vuksanovic, Hans van Bokhoven, Ron A. Wevers, Christian R.H. Raetz, Hudson H. Freeze, Éva Morava, Lihadh Al‐Gazali, Joseph G. Gleeson

    Gepubliceerd in 2010
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  15. 15
    Exome Sequencing Can Improve Diagnosis and Alter Patient Management

    Exome Sequencing Can Improve Diagnosis and Alter Patient Management door Tracy Dixon‐Salazar, Jennifer L. Silhavy, Nitin Udpa, Jana Schroth, Stephanie Bielas, Ashleigh E. Schaffer, Jesus Olvera, Vineet Bafna, Maha S. Zaki, Ghada M. H. Abdel‐Salam, Lobna Mansour, Laila Selim, Sawsan Abdel-Hadi, Naïma Marzouki, Tawfeg Ben‐Omran, Nouriya A. Al-Saana, F.M. Sonmez, Figen Celep, Matloob Azam, Kiley J. Hill, Adrienne Collazo, Ali G. Fenstermaker, Gaia Novarino, Naiara Akizu, Kiran Garimella, Carrie Sougnez, Carsten Russ, Stacey Gabriel, Joseph G. Gleeson

    Gepubliceerd in 2012
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  16. 16
    CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium

    CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium door Ji Eun Lee, Jennifer L. Silhavy, Maha S. Zaki, Jana Schroth, Stephanie Bielas, Sarah Marsh, Jesus Olvera, Francesco Brancati, Miriam Iannicelli, Koji Ikegami, Andrew M Schlossman, Barry Merriman, Tania Attié‐Bitach, Clare V. Logan, Ian Glass, Andrew Cluckey, Carrie M Louie, Jeong Ho Lee, Hilary R Raynes, Isabelle Rapin, Ignacio P Castroviejo, Mitsutoshi Setou, Clara Barbot, Eugen Boltshauser, Stanley F. Nelson, Friedhelm Hildebrandt, Colin A. Johnson, Daniel Doherty, Enza Maria Valente, Joseph G. Gleeson

    Gepubliceerd in 2012
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  17. 17
    Genotype-phenotype correlations in individuals with pathogenic<i>RERE</i>variants

    Genotype-phenotype correlations in individuals with pathogenic<i>RERE</i>variants door Valerie K. Jordan, Brieana Fregeau, Xiaoyan Ge, Jessica L. Giordano, Ronald J. Wapner, Tuğçe B. Balcı, Jennefer N. Carter, John Bernat, Amanda Moccia, Anshika Srivastava, Donna M. Martin, Stephanie Bielas, John Pappas, Melissa Svoboda, Marlène Rio, Nathalie Boddaert, Vincent Cantagrel, Andrea M. Lewis, Fernando Scaglia, Jennefer N. Kohler, Jonathan A. Bernstein, Annika M. Dries, Jill A. Rosenfeld, Colette DeFilippo, Willa Thorson, Yaping Yang, Elliott H. Sherr, Weimin Bi, Daryl A. Scott

    Gepubliceerd in 2018
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  18. 18
    Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations

    Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations door Elizabeth A. Werren, Emily Peirent, Henna Jäntti, Alba Guxholli, Kinshuk Raj Srivastava, Naama Orenstein, Vinodh Narayanan, Wojciech Wiszniewski, Mateusz Dawidziuk, Paweł Gawliński, Muhammad Umair, Amjad Khan, Shahid Niaz Khan, David Geneviève, Daphné Lehalle, Koen L.I. van Gassen, Jacques C. Giltay, Renske Oegema, Richard H. van Jaarsveld, Rafiullah Rafiullah, Gudrun Rappold, Rachel Rabin, John Pappas, Marsha M. Wheeler, Michael J. Bamshad, Yao-Chang Tsan, Matthew B. Johnson, Catherine E. Keegan, Anshika Srivastava, Stephanie Bielas

    Gepubliceerd in 2024
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  19. 19
    Evolutionarily Assembled cis-Regulatory Module at a Human Ciliopathy Locus

    Evolutionarily Assembled cis-Regulatory Module at a Human Ciliopathy Locus door Jeong Ho Lee, Jennifer L. Silhavy, Ji Eun Lee, Lihadh Al‐Gazali, Sophie Thomas, Erica E. Davis, Stephanie Bielas, Kiley J. Hill, Miriam Iannicelli, Francesco Brancati, Stacey Gabriel, Carsten Russ, Clare V. Logan, Saghira Malik Sharif, Christopher Bennett, Masumi Abe, Friedhelm Hildebrandt, Bill H. Diplas, Tania Attié‐Bitach, Nicholas Katsanis, Anna Rajab, Roshan Koul, László Sztriha, Elizabeth R. Waters, Susan Ferro‐Novick, C. Geoffrey Woods, Colin A. Johnson, Enza Maria Valente, Maha S. Zaki, Joseph G. Gleeson

    Gepubliceerd in 2012
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  20. 20
    CEP290 Mutations Are Frequently Identified in the Oculo-Renal Form of Joubert Syndrome–Related Disorders

    CEP290 Mutations Are Frequently Identified in the Oculo-Renal Form of Joubert Syndrome–Related Disorders door Francesco Brancati, Giuseppe Barrano, Jennifer L. Silhavy, Sarah Marsh, Lorena Travaglini, Stephanie Bielas, Maria Amorini, Dominika Zablocka, Hülya Kayserili, Lihadh Al‐Gazali, Enrico Bertini, Eugen Boltshauser, Marc D’Hooghe, Elisa Fazzi, Elif Yosunkaya Fenerci, Raoul C. M. Hennekam, Andrea Kiss, Melissa Lees, Elysa Marco, Shubha R. Phadke, Luciana Rigoli, Stéphane Romano, Carmelo Salpietro, Elliott H. Sherr, Sabrina Signorini, Petter Strømme, Bernard Stuart, László Sztriha, David Viskochil, Adnan Yüksel, Bruno Dallapiccola, Enza Maria Valente, Joseph G. Gleeson

    Gepubliceerd in 2007
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