检索结果 - Castilla-Vallmanya, Laura

The ASXL1 mutation p.Gly646Trpfs*12 found in a Turkish boy with Bohring‐Opitz Syndrome 由 Urreizti, Roser, Gürsoy, Semra, Castilla‐Vallmanya, Laura, Cunill, Guillem, Rabionet, Raquel, Erçal, Derya, Grinberg, Daniel, Balcells, Susana

获取全文 获取全文 获取全文

Case report of a child bearing a novel deleterious splicing variant in PIGT 由 Mason, Samantha, Castilla-Vallmanya, Laura, James, Con, Andrews, P. Ian, Balcells, Susana, Grinberg, Daniel, Kirk, Edwin P., Urreizti, Roser

获取全文 获取全文 获取全文

De Novo PORCN and ZIC2 Mutations in a Highly Consanguineous Family 由 Castilla-Vallmanya, Laura, Gürsoy, Semra, Giray-Bozkaya, Özlem, Prat-Planas, Aina, Bullich, Gemma, Matalonga, Leslie, Centeno-Pla, Mónica, Rabionet, Raquel, Grinberg, Daniel, Balcells, Susanna, Urreizti, Roser

获取全文 获取全文 获取全文

A De Novo FOXP1 Truncating Mutation in a Patient Originally Diagnosed as C Syndrome 由 Urreizti, Roser, Damanti, Sarah, Esteve, Carla, Franco-Valls, Héctor, Castilla-Vallmanya, Laura, Tonda, Raul, Cormand, Bru, Vilageliu, Lluïsa, Opitz, John M., Neri, Giovanni, Grinberg, Daniel, Balcells, Susana

获取全文 获取全文 获取全文

Neuronal and Astrocytic Differentiation from Sanfilippo C Syndrome iPSCs for Disease Modeling and Drug Development 由 Benetó, Noelia, Cozar, Monica, Castilla-Vallmanya, Laura, Zetterdahl, Oskar G., Sacultanu, Madalina, Segur-Bailach, Eulalia, García-Morant, María, Ribes, Antonia, Ahlenius, Henrik, Grinberg, Daniel, Vilageliu, Lluïsa, Canals, Isaac

获取全文 获取全文 获取全文

DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients 由 Urreizti, Roser, Mayer, Klaus, Evrony, Gilad D., Said, Edith, Castilla-Vallmanya, Laura, Cody, Neal A. L., Plasencia, Guillem, Gelb, Bruce D., Grinberg, Daniel, Brinkmann, Ulrich, Webb, Bryn D., Balcells, Susanna

获取全文 获取全文 获取全文

Correction: DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients 由 Urreizti, Roser, Mayer, Klaus, Evrony, Gilad D., Said, Edith, Castilla-Vallmanya, Laura, Cody, Neal A. L., Plasencia, Guillem, Gelb, Bruce D., Grinberg, Daniel, Brinkmann, Ulrich, Webb, Bryn D., Balcells, Susanna

获取全文 获取全文 获取全文

Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum 由 Urreizti, Roser, Lopez-Martin, Estrella, Martinez-Monseny, Antonio, Pujadas, Montse, Castilla-Vallmanya, Laura, Pérez-Jurado, Luis Alberto, Serrano, Mercedes, Natera-de Benito, Daniel, Martínez-Delgado, Beatriz, Posada-de-la-Paz, Manuel, Alonso, Javier, Marin-Reina, Purificación, O’Callaghan, Mar, Grinberg, Daniel, Bermejo-Sánchez, Eva, Balcells, Susanna

获取全文 获取全文 获取全文

Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7 由 Castilla-Vallmanya, Laura, Selmer, Kaja K., Dimartino, Clémantine, Rabionet, Raquel, Blanco-Sánchez, Bernardo, Yang, Sandra, Reijnders, Margot R. F., van Essen, Antonie J., Oufadem, Myriam, Vigeland, Magnus D., Stadheim, Barbro, Houge, Gunnar, Cox, Helen, Kingston, Helen, Clayton-Smith, Jill, Innis, Jeffrey W., Iascone, Maria, Cereda, Anna, Gabbiadini, Sara, Chung, Wendy K., Sanders, Victoria, Charrow, Joel, Bryant, Emily, Millichap, John, Vitobello, Antonio, Thauvin, Christel, Mau-Them, Frederic Tran, Faivre, Laurence, Lesca, Gaetan, Labalme, Audrey, Rougeot, Christelle, Chatron, Nicolas, Sanlaville, Damien, Christensen, Katherine M., Kirby, Amelia, Lewandowski, Raymond, Gannaway, Rachel, Aly, Maha, Lehman, Anna, Clarke, Lorne, Graul-Neumann, Luitgard, Zweier, Christiane, Lessel, Davor, Lozic, Bernarda, Aukrust, Ingvild, Peretz, Ryan, Stratton, Robert, Smol, Thomas, Dieux-Coëslier, Anne, Meira, Joanna, Wohler, Elizabeth, Sobreira, Nara, Beaver, Erin M., Heeley, Jennifer, Briere, Lauren C., High, Frances A., Sweetser, David A., Walker, Melissa A., Keegan, Catherine E., Jayakar, Parul, Shinawi, Marwan, Kerstjens-Frederikse, Wilhelmina S., Earl, Dawn L., Siu, Victoria M., Reesor, Emma, Yao, Tony, Hegele, Robert A., Vaske, Olena M., Rego, Shannon, Shapiro, Kevin A., Wong, Brian, Gambello, Michael J., McDonald, Marie, Karlowicz, Danielle, Colombo, Roberto, Serretti, Alessandro, Pais, Lynn, O’Donnell-Luria, Anne, Wray, Alison, Sadedin, Simon, Chong, Belinda, Tan, Tiong Y., Christodoulou, John, White, Susan M., Slavotinek, Anne, Barbouth, Deborah, Swols, Dayna Morel, Parisot, Mélanie, Bole-Feysot, Christine, Nitschké, Patrick, Pingault, Véronique, Munnich, Arnold, Cho, Megan T., Cormier-Daire, Valérie, Balcells, Susanna, Lyonnet, Stanislas, Grinberg, Daniel, Amiel, Jeanne, Urreizti, Roser, Gordon, Christopher T.

获取全文 获取全文 获取全文