Результаты поиска - Godwin, Annie

Anaplastic lymphoma kinase (alk), a neuroblastoma associated gene, is expressed in neural crest domains during embryonic development of Xenopus по Moreno, Marcela M., Barrell, William B., Godwin, Annie, Guille, Matthew, Liu, Karen J.

Полный текст Полный текст Полный текст

Biallelic variants in COPB1 cause a novel, severe intellectual disability syndrome with cataracts and variable microcephaly по Macken, William L., Godwin, Annie, Wheway, Gabrielle, Stals, Karen, Nazlamova, Liliya, Ellard, Sian, Alfares, Ahmed, Aloraini, Taghrid, AlSubaie, Lamia, Alfadhel, Majid, Alajaji, Sulaiman, Wai, Htoo A., Self, Jay, Douglas, Andrew G. L., Kao, Alexander P., Guille, Matthew, Baralle, Diana

Полный текст Полный текст Полный текст

Identification and functional evaluation of GRIA1 missense and truncation variants in individuals with ID: An emerging neurodevelopmental syndrome по Ismail, Vardha, Zachariassen, Linda G., Godwin, Annie, Sahakian, Mane, Ellard, Sian, Stals, Karen L., Baple, Emma, Brown, Kate Tatton, Foulds, Nicola, Wheway, Gabrielle, Parker, Matthew O., Lyngby, Signe M., Pedersen, Miriam G., Desir, Julie, Bayat, Allan, Musgaard, Maria, Guille, Matthew, Kristensen, Anders S., Baralle, Diana

Полный текст Полный текст Полный текст

A novel adeno-associated virus capsid with enhanced neurotropism corrects a lysosomal transmembrane enzyme deficiency по Tordo, Julie, O’Leary, Claire, Antunes, André S L M, Palomar, Nuria, Aldrin-Kirk, Patrick, Basche, Mark, Bennett, Antonette, D’Souza, Zelpha, Gleitz, Hélène, Godwin, Annie, Holley, Rebecca J, Parker, Helen, Liao, Ai Yin, Rouse, Paul, Youshani, Amir Saam, Dridi, Larbi, Martins, Carla, Levade, Thierry, Stacey, Kevin B, Davis, Daniel M, Dyer, Adam, Clément, Nathalie, Björklund, Tomas, Ali, Robin R, Agbandje-McKenna, Mavis, Rahim, Ahad A, Pshezhetsky, Alexey, Waddington, Simon N, Linden, R Michael, Bigger, Brian W, Henckaerts, Els

Полный текст Полный текст Полный текст

Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders по Barbosa, Sónia, Greville-Heygate, Stephanie, Bonnet, Maxime, Godwin, Annie, Fagotto-Kaufmann, Christine, Kajava, Andrey V., Laouteouet, Damien, Mawby, Rebecca, Wai, Htoo Aung, Dingemans, Alexander J.M., Hehir-Kwa, Jayne, Willems, Marjorlaine, Capri, Yline, Mehta, Sarju G., Cox, Helen, Goudie, David, Vansenne, Fleur, Turnpenny, Peter, Vincent, Marie, Cogné, Benjamin, Lesca, Gaëtan, Hertecant, Jozef, Rodriguez, Diana, Keren, Boris, Burglen, Lydie, Gérard, Marion, Putoux, Audrey, Cantagrel, Vincent, Siquier-Pernet, Karine, Rio, Marlene, Banka, Siddharth, Sarkar, Ajoy, Steeves, Marcie, Parker, Michael, Clement, Emma, Moutton, Sébastien, Tran Mau-Them, Frédéric, Piton, Amélie, de Vries, Bert B.A., Guille, Matthew, Debant, Anne, Schmidt, Susanne, Baralle, Diana

Полный текст Полный текст Полный текст