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Showing 1 - 12 of 98 results
Publication

The 8th International RASopathies Symposium: Expanding research and care practice through global collaboration and advocacy.

Elizabeth I. Pierpont, Anton M. Bennett, April Anschutz, Benjamin Briggs, Beth Stronach, Bonita P. Klein-Tasman, Bruce D. Gelb, Carlos E. Prada, Chiara Leoni, Christine Sevilla, Christopher Moertel, Clifford Z. Liu, Cordula Wolf, Dagmar Tiemens, Daochun Sun, Elisabetta Flex, Ellen Wingbermühle, Elliot Stieglitz, Emma Burkitt-Wright, Fieke Draaisma, Forest White, Gigi Sevilla, Gregor Andelfinger, Ion C. Cirstea, Karen W. Gripp, Karolin Kleemann, Katherine A. Rauen, Lisa Schoyer, Maria I. Kontaridis, Mark W. Kieran, Martin Zenker, Megan N. Frone, Michelle Ellis, Nadia Merchant, Pau Castel, Paul Kruszka, Pilar L. Magoulas, Renée Roelofs, Rodrigue Rossignol, Ryan Sheedy, Sarah C. Borrie, Sattar Khoshkhoo, Tamar Green, Vanessa S. Fear

Publication

Prenatal and infantile diagnosis of craniosynostosis in individuals with RASopathies.

Carolyn R. Serbinski, Ana Isabel Sanchez, April Vanderwal, Carlos E. Prada, K. Nicole Weaver, Robert B. Hufnagel, Robert J. Hopkin, Sarah E. Chadwell

Publication

Role of CAMK2D in neurodevelopment and associated conditions.

Pomme M.F. Rigter, Amy Blevins, Berfin Yuseinova, Caitlin Barnes, Caleb P. Bupp, Carlos E. Prada, Carsten N. Jonkers, Cathryn Poulton, Charlotte de Konink, Chin-To Fong, Danielle C.M. Veenma, Diane Beysen, Elena Savva, Elizabeth Bhoj, Emily Calamaro, Eva Hordijk, Fan Xia, Fiona McKenzie, Geeske M. van Woerden, Howard Schulman, Ingrid M. Wentzensen, Jennifer Conway, Jennifer B. Humberson, Jill A. Rosenfeld, K. Nicole Weaver, Lucas Anderson, Margaret M. Stratton, Marije Meuwissen, Martina Proietti Onori, Matthew Thomas, Matthew J. Dunn, Miriam Elbracht, Oana Caluseriu, Peter M. Krawitz, Sandra Mercier, Sarah Polonia, Sébastien Küry, Stéphane Bézieau, Thomas D. Ryan, Tzung-Chien Hsieh, Wim Wuyts, Zornitza Stark

Publication

Outcomes and Associated Extracardiac Malformations in Neonates from Colombia with Severe Congenital Heart Disease.

Jorge L. Alvarado, Allison Goetsch Weisman, Anderson Bermon, Camilo Martinez, Carlos E. Prada, Claudia Florez, Helena Franco, Javier Castro, Kathryn N. Weaver, Kathy Villegas, Monica Cruz, Nisha Shabbir

Publication

Treatment-naive and post-treatment glucosylsphingosine (lyso-GL1) levels in a cohort of pediatric patients with Gaucher disease.

Carly A. Rasmussen, Allegra Quadri, Carlos E. Prada, Erika Vucko, Joel Charrow, Joshua J. Baker, Katherine Kim, Rachel Hickey

Publication

Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder.

Andrea Accogli, Aida Telegrafi, Alice A. Basinger, Almundher Al-Maawali, Amber Begtrup, Andreas Hahn, Benjamin Cognè, Bertrand Isidor, Carlos E. Prada, Cassidy Petree, Chiara Doneda, Chris Mühlhausen, Clarissa Rocca, Daniele Ghezzi, Davide Tonduti, Dorothy K. Grange, Eleonora Lamantea, Elsebet Østergaard, G. Bradly Schaefer, Gaurav K. Varshney, Heidi L. Schulz, Henry Houlden, Hilda Verónica Aráoz, Hong Cui, Julia Mohr, Julie Vogt, Karen W. Gripp, Kevin Huang, Khalid Al-Thihli, Lara M. Marten, Laura Davis Keppen, Lindsey B. Sawyer, Lokesh Lingappa, Lucy Raymond, Maha S. Zaki, Manali Chitre, Maria Gomez, Mariana Amina Loos, Mariasavina Severino, Marie Sissler, Mathilde Nizon, Megan Landsverk, Monica Davis, Nahum Sonenberg, Paige McDunnah, Rafael Mena, Reza Maroofian, Rita Horvath, Robert W. Taylor, Saskia Biskup, Seyed Mehdi Jafarnejad, Sheng-Jia Lin, Signe Vandal Pedersen, Sung-Hoon Kim, Toni S. Pearson, Varunvenkat M. Srinivasan, Vincent Procaccio, Vincenzo Salpietro, Vykuntaraju K. Gowda

Publication

YWHAE loss of function causes a rare neurodevelopmental disease with brain abnormalities in human and mouse.

Anne-Sophie Denommé-Pichon, Alessandra Renieri, Alexis Overs, Ange-Line Bruel, Anna Mikhaleva, Antonio Vitobello, Binnaz Yalcin, Blandine Dozières, Carlos A. Bacino, Carlos E. Prada, Christel Thauvin-Robinet, Christel Wagner, Christophe Philippe, Christopher J. Lelliott, Eric Legius, Fernando Santos-Simarro, Gwenaël Le Guyader, Isabelle Desguerre, Jill A. Rosenfeld, Jonathan Levy, Laurence Faivre, María Palomares-Bralo, Maria Antonietta Mencarelli, Marta Pacio-Míguez, Martin Chevarin, Mathys Weber, Matthieu Egloff, Quentin Thomas, Salvatore Grosso, Stephan C. Collins, Tiffany Busa, Valerie E. Vancollie, Xavier Le Guillou, Yannis Duffourd

Publication

Motor Function and Physiology in Youth With Neurofibromatosis Type 1.

Alexander C. Doherty, Brittany N. Simpson, Carlos E. Prada, David A. Huddleston, Donald L. Gilbert, Elizabeth K. Schorry, Lindsey Aschbacher-Smith, Nancy Ratner, Paul S. Horn

Publication

International Pediatric Multidisciplinary Management Using Telemedicine to Promote Equitable Care.

Rafael Mena, Carlos E. Prada, Esperanza Mendoza, Francesco T. Mangano, Jennifer Ruschman, Kevin J. Little, Michael Henrickson, Michael Scott, William R. DeFoor

Publication

Early allograft dysfunction in a pediatric liver allograft with an occult pathogenic mutation in the urea cycle.

Milad Rezvani, Anna L. Peters, Carlos E. Prada, Kathleen M. Campbell

Publication

The 2019-2020 Dengue Fever Epidemic: Genomic Markers Indicating Severity in Dominican Republic Children.

Brittany N Simpson, Ammar Husami, Carlos E Prada, Cesár Mota, Elizabeth Schlaudecker, Elvira J Diaz Brockmans, Javier Gonzalez del Rey, Javier O Santiago Pérez, Karla M Taveras Cruz, Lisa J Martin, Louis J Muglia, Margaret K Hostetter, María F Díaz Soto, Melissa E Day, Miguel E Mejía Sang, Rafael Mena, Stephanie M Rivera Defilló, Valentina Pilipenko, Yonairy Collado Puello

Publication

Clustered variants in the 5' coding region of TRA2B cause a distinctive neurodevelopmental syndrome.

Francis Ramond, Allan Bayat, Annalisa Vetro, Barbara Oehl-Jaschkowitz, Carlos E. Prada, Carolina Mendoza Fuentes, Caroline Dalgliesh, David FitzPatrick, David J. Elliott, Dennis Witt, Erin Torti, Lily Bazak, Lina Basel Salmon, Lorena Santa María, Marine Lebrun, Miriam Bertrand, Mona Grimmel, Naama Orenstein, Noa Ruhrman Shahar, Oded Wechsberg, Ofir Hagari, Paulina Mabe, Peter D. Turnpenny, Rebecca L. Poole, Renzo Guerrini, Sabine Hoffjan, Shaun A. Hussain, Sureni V. Mullegama, Tobias Haack, Ute Grasshoff, Víctor Faundes