Search Results - Gonzaga-Jauregui, Claudia

Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panels by Riggs, Erin Rooney (Author) , Bingaman, Taylor I. (Author) , Barry, Carrie-Ann (Author) , Behlmann, Andrea (Author) , Bluske, Krista (Author) , Bostwick, Bret (Author) , Bright, Alison (Author) , Chen, Chun-An (Author) , Clause, Amanda R. (Author) , Dharmadhikari, Avinash V. (Author) , Ganapathi, Mythily (Author) , Gonzaga-Jauregui, Claudia (Author) , Grant, Andrew R. (Author) , Hughes, Madeline Y. (Author) , Kim, Se Rin (Author) , Krause, Amanda (Author) , Liao, Jun (Author) , Lumaka, Aimé (Author) , Mah, Michelle (Author) , Maloney, Caitlin M. (Author) , Mohan, Shruthi (Author) , Osei-Owusu, Ikeoluwa A. (Author) , Reble, Emma (Author) , Rennie, Olivia (Author) , Savatt, Juliann M. (Author) , Shimelis, Hermela (Author) , Siegert, Rebecca K. (Author) , Sneddon, Tam P. (Author) , Thaxton, Courtney (Author) , Toner, Kelly A. (Author) , Tran, Kien Trung (Author) , Webb, Ryan (Author) , Wilcox, Emma H. (Author) , Yin, Jiani (Author) , Zhuo, Xinming (Author) , Znidarsic, Masa (Author) , Martin, Christa Lese (Author) , Betancur, Catalina (Author) , Vorstman, Jacob A. S. (Author) , Miller, David T. (Author) , Schaaf, Christian P. (Author) ,

• Verlag, lizenzpflichtig, Volltext
• Verlag, lizenzpflichtig, Volltext

Pathogenic variants in SMARCA5, a chromatin remodeler, cause a range of syndromic neurodevelopmental features by Li, Dong (Author) , Wang, Qin (Author) , Gong, Naihua N. (Author) , Kurolap, Alina (Author) , Feldman, Hagit Baris (Author) , Boy, Nikolas (Author) , Brugger, Melanie (Author) , Grand, Katheryn (Author) , McWalter, Kirsty (Author) , Sacoto, Maria J. Guillen (Author) , Wakeling, Emma (Author) , Hurst, Jane (Author) , March, Michael E. (Author) , Bhoj, Elizabeth J. (Author) , Nowaczyk, Małgorzata J. M. (Author) , Gonzaga-Jauregui, Claudia (Author) , Mathew, Mariam (Author) , Dava-Wala, Ashita (Author) , Siemon, Amy (Author) , Bartholomew, Dennis (Author) , Huang, Yue (Author) , Lee, Hane (Author) , Martinez-Agosto, Julian A. (Author) , Schwaibold, Eva M. C. (Author) , Brunet, Theresa (Author) , Choukair, Daniela (Author) , Pais, Lynn S. (Author) , White, Susan M. (Author) , Christodoulou, John (Author) , Brown, Dana (Author) , Lindstrom, Kristin (Author) , Grebe, Theresa (Author) , Tiosano, Dov (Author) , Kayser, Matthew S. (Author) , Tan, Tiong Yang (Author) , Deardorff, Matthew A. (Author) , Song, Yuanquan (Author) , Hakonarson, Hakon (Author) ,

• Verlag, lizenzpflichtig, Volltext
• Verlag, lizenzpflichtig, Volltext