Speech and language in DDX3X-neurodevelopmental disorder: A call for early augmentative and alternative communication intervention
- Creator: Forbes, Elana J. , Morison, Lottie D. , Morgan, Angela T. , Lelik, Fatma , Howell, Tegan , Debono, Simone , Goel, Himanshu , Burger, Pauline , Mandel, Jean-Louis , Geneviève, David , Amor, David J.
- Resource Type: journal article
- Date: 2024
De novo variants in CNOT1, a central component of the CCR4-NOT complex involved in gene expression and RNA and protein stability, cause neurodevelopmental delay
- Creator: Vissers, Lisenka E. L. M. , Kalvakuri, Sreehari , de Boer, Elke , Geuer, Sinje , Oud, Machteld , van Outersterp, Inge , Kwint, Michael , Witmond, Melde , Kersten, Simone , Polla, Daniel L. , Weijers, Dilys , Begtrup, Amber , McWalter, Kristy , Ruiz, Anna , Gabau, Elisabeth , Morton, Jenny E. V. , Griffith, Christopher , Weiss, Karin , Gamble, Candace , Bartley, James , Goel, Himanshu
- Resource Type: journal article
- Date: 2020
Delineating the psychiatric and behavioral phenotype of recurrent 2q13 deletions and duplications
- Creator: Wolfe, Kate , McQuillin, Andrew , Goel, Himanshu , Loddo, Sara , Morrogh, Deborah , Mosca-Boidron, Anne-Laura , Novelli, Antonio , Olivier-Faivre, Laurence , Parker, Jennifer , Parker, Michael J. , Patch, Christine , Pelling, Anna L. , Alesi, Viola , Smol, Thomas , Tümer, Zeynep , Vanakker, Olivier , van Haeringen, Arie , Vanlerberghe, Clemence , Strydom, Andre , Skuse, David , Bass, Nick , Boudry Labis, Elise , Cutajar, Peter , Dallapiccola, Bruno , Dentici, Maria Lisa , Dieux-Coeslier, Anne , Duban-Bedu, Benedicte , Duelund Hjortshøj, Tina
- Resource Type: journal article
- Date: 2018
A novel genetic syndrome characterized by pediatric cataract, dysmorphism, ectodermal features, and developmental delay in an Indigenous Australian family
- Creator: Burdon, Kathryn P. , Durkin, Shane R. , Burke, Mary , Edwards, Matthew , Pater, John , Straga, Tania , Gecz, Jozef , Liebelt, Jan E. , Craig, Jamie E.
- Resource Type: journal article
- Date: 2009