Showing 1 - 14 results of 14 for search 'Julian A Martinez-Agosto', query time: 0.05s
Refine Results
-
1
Effects of mTOR Inhibitors on Components of the Salvador-Warts-Hippo Pathway by Julian A. Martinez-Agosto, Jonathan Chiang
Published 2012-10-01
Article -
2
Epigenetic age provides insight into tissue origin in endometriosis by Katie Leap, Iveta Yotova, Steve Horvath, Julian A. Martinez-Agosto
Published 2022-12-01
Article -
3
Stem Cell Niche Dynamics: From Homeostasis to Carcinogenesis by Kevin S. Tieu, Ryan S. Tieu, Julian A. Martinez-Agosto, Mary E. Sehl
Published 2012-01-01
Article -
4
-
5
-
6
Longitudinal neurobehavioral profiles in children and young adults with PTEN hamartoma tumor syndrome and reliable methods for assessing neurobehavioral change by Robyn M. Busch, Thomas W. Frazier II, Claire Sonneborn, Olivia Hogue, Patricia Klaas, Siddharth Srivastava, Antonio Y. Hardan, Julian A. Martinez-Agosto, Mustafa Sahin, Charis Eng
Published 2023-01-01
Article -
7
Cross-level analysis of molecular and neurobehavioral function in a prospective series of patients with germline heterozygous PTEN mutations with and without autism by Thomas W. Frazier, Ritika Jaini, Robyn M. Busch, Matthew Wolf, Tammy Sadler, Patricia Klaas, Antonio Y. Hardan, Julian A. Martinez-Agosto, Mustafa Sahin, Charis Eng, the Developmental Synaptopathies Consortium
Published 2021-01-01
Article -
8
Is polycystic kidney disease associated with malignancy in children? by Brian D. Friend, Kami Wolfe Schneider, Timothy Garrington, Laurel Truscott, Julian A. Martinez‐Agosto, Robert S. Venick, Eileen Tsai Chambers, Patricia Weng, Douglas G. Farmer, Vivian Y. Chang, Noah Federman
Published 2019-07-01
Article -
9
Functional and structural analyses of novel Smith-Kingsmore Syndrome-Associated MTOR variants reveal potential new mechanisms and predictors of pathogenicity. by Aaron D Besterman, Thorsten Althoff, Peter Elfferich, Irma Gutierrez-Mejia, Joshua Sadik, Jonathan A Bernstein, Yvette van Ierland, Anja A Kattentidt-Mouravieva, Mark Nellist, Jeff Abramson, Julian A Martinez-Agosto
Published 2021-07-01
Article -
10
Exploring the neurological features of individuals with germline PTEN variants: A multicenter study by Andrew Dhawan, Sarah Baitamouni, Darren Liu, Robyn Busch, Patricia Klaas, Thomas W. Frazier, Siddharth Srivastava, Sumit Parikh, Gary E. Hsich, Neil R. Friedman, David M. Ritter, Antonio Y. Hardan, Julian A. Martinez‐Agosto, Mustafa Sahin, Charis Eng
Published 2024-05-01
Article -
11
Psychiatric Characteristics Across Individuals With PTEN Mutations by Morgan Steele, Mirko Uljarević, Mirko Uljarević, Gaëlle Rached, Thomas W. Frazier, Thomas W. Frazier, Jennifer M. Phillips, Robin A. Libove, Robyn M. Busch, Robyn M. Busch, Patricia Klaas, Julian A. Martinez-Agosto, Siddharth Srivastava, Charis Eng, Charis Eng, Mustafa Sahin, Antonio Y. Hardan
Published 2021-08-01
Article -
12
Novel NUDT2 variant causes intellectual disability and polyneuropathy by Frank Diaz, Shaweta Khosa, Dmitriy Niyazov, Hane Lee, Richard Person, Michelle M. Morrow, Rebecca Signer, Naghmeh Dorrani, Allison Zheng, Matthew Herzog, Robert Freundlich, Undiagnosed Diseases Network, J. Brandon Birath, Yurivia Cervantes‐Manzo, Julian A. Martinez‐Agosto, Christina Palmer, Stanley F. Nelson, Brent L. Fogel, Shri K. Mishra
Published 2020-11-01
Article -
13
EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum by Ulrike Hüffmeier, Cornelia Kraus, Miriam S. Reuter, Steffen Uebe, Mary-Alice Abbott, Syed A. Ahmed, Kristyn L. Rawson, Eileen Barr, Hong Li, Ange-Line Bruel, Laurence Faivre, Frédéric Tran Mau-Them, Christina Botti, Susan Brooks, Kaitlyn Burns, D. Isum Ward, Marina Dutra-Clarke, Julian A. Martinez-Agosto, Hane Lee, Stanley F. Nelson, UCLA California Center for Rare Disease, Pia Zacher, Rami Abou Jamra, Chiara Klöckner, Julie McGaughran, Jürgen Kohlhase, Sarah Schuhmann, Ellen Moran, John Pappas, Annick Raas-Rothschild, Maria J. Guillen Sacoto, Lindsay B. Henderson, Timothy Blake Palculict, Sureni V. Mullegama, Houda Zghal Elloumi, Adi Reich, Samantha A. Schrier Vergano, Erica Wahl, André Reis, Christiane Zweier
Published 2021-03-01
Article -
14
Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders by Ilaria Mannucci, Nghi D. P. Dang, Hannes Huber, Jaclyn B. Murry, Jeff Abramson, Thorsten Althoff, Siddharth Banka, Gareth Baynam, David Bearden, Ana Beleza-Meireles, Paul J. Benke, Siren Berland, Tatjana Bierhals, Frederic Bilan, Laurence A. Bindoff, Geir Julius Braathen, Øyvind L. Busk, Jirat Chenbhanich, Jonas Denecke, Luis F. Escobar, Caroline Estes, Julie Fleischer, Daniel Groepper, Charlotte A. Haaxma, Maja Hempel, Yolanda Holler-Managan, Gunnar Houge, Adam Jackson, Laura Kellogg, Boris Keren, Catherine Kiraly-Borri, Cornelia Kraus, Christian Kubisch, Gwenael Le Guyader, Ulf W. Ljungblad, Leslie Manace Brenman, Julian A. Martinez-Agosto, Matthew Might, David T. Miller, Kelly Q. Minks, Billur Moghaddam, Caroline Nava, Stanley F. Nelson, John M. Parant, Trine Prescott, Farrah Rajabi, Hanitra Randrianaivo, Simone F. Reiter, Janneke Schuurs-Hoeijmakers, Perry B. Shieh, Anne Slavotinek, Sarah Smithson, Alexander P. A. Stegmann, Kinga Tomczak, Kristian Tveten, Jun Wang, Jordan H. Whitlock, Christiane Zweier, Kirsty McWalter, Jane Juusola, Fabiola Quintero-Rivera, Utz Fischer, Nan Cher Yeo, Hans-Jürgen Kreienkamp, Davor Lessel
Published 2021-05-01
Article