日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Retroviral insertions contributed to the divergence of human and chimpanzee brains.

逆转录病毒插入导致了人类和黑猩猩大脑的分化。

Gerdes Patricia, Karlsson Ofelia, Garza Raquel, Atacho Diahann A M, Hsieh PingHsun, Prajapati Bharat, Muralidharan Chandramouli, Adami Anita, Davis-Hansson Carrie, Johansson Emily M, Castilla-Vallmanya Laura, West Wiktor, Vinoud Meghna, Domitrovic Lucian, Johansson Pia A, Johansson Jenny, Douse Christopher H, Kanduri Chandrasekhar, Jern Patric, Eichler Evan E, Jakobsson Johan

Advancing in Schaaf-Yang syndrome pathophysiology: from bedside to subcellular analyses of truncated MAGEL2

Schaaf-Yang综合征病理生理学研究进展:从床旁分析到截短型MAGEL2的亚细胞分析

Castilla-Vallmanya, Laura; Centeno-Pla, Mónica; Serrano, Mercedes; Franco-Valls, Héctor; Martínez-Cabrera, Raúl; Prat-Planas, Aina; Rojano, Elena; Ranea, Juan A G; Seoane, Pedro; Oliva, Clara; Paredes-Fuentes, Abraham J; Marfany, Gemma; Artuch, Rafael; Grinberg, Daniel; Rabionet, Raquel; Balcells, Susanna; Urreizti, Roser

De Novo PORCN and ZIC2 Mutations in a Highly Consanguineous Family

高度近亲结婚家族中的PORCN和ZIC2基因新发突变

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

Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7

TRAF7基因种系变异相关的表型谱和转录组特征

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; Morel Swols, Dayna; 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

Correction: DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients

更正:DPH1综合征:在综合征患者中发现的两种新变异以及七个错义变异的结构和功能分析

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

DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients.

DPH1 综合征:在综合征患者中发现的两种新变异以及七个错义变异的结构和功能分析

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

Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum

五例由KAT6A基因突变引起的综合征性智力障碍新病例:分子和临床谱的拓展

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

A De Novo FOXP1 Truncating Mutation in a Patient Originally Diagnosed as C Syndrome

一名最初被诊断为C综合征的患者出现新生FOXP1截断突变

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

The ASXL1 mutation p.Gly646Trpfs*12 found in a Turkish boy with Bohring-Opitz Syndrome

在一名患有博林-奥皮茨综合征的土耳其男孩中发现的ASXL1突变p.Gly646Trpfs*12

Urreizti, Roser; Gürsoy, Semra; Castilla-Vallmanya, Laura; Cunill, Guillem; Rabionet, Raquel; Erçal, Derya; Grinberg, Daniel; Balcells, Susana