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

Automated, image-based quantification of peroxisome characteristics with perox-per-cell

利用过氧化物酶体细胞(perox-per-cell)技术,实现基于图像的过氧化物酶体特征的自动化定量分析

Neal, Maxwell L; Shukla, Nandini; Mast, Fred D; Farré, Jean-Claude; Pacio, Therese M; Raney-Plourde, Katelyn E; Prasad, Sumedh; Subramani, Suresh; Aitchison, John D

Global Differences in Risk Factors, Etiology, and Outcome of Ischemic Stroke in Young Adults-A Worldwide Meta-analysis: The GOAL Initiative

青年人缺血性卒中危险因素、病因和预后的全球差异——一项全球荟萃分析:GOAL倡议

Jacob, Mina A; Ekker, Merel S; Allach, Youssra; Cai, Mengfei; Aarnio, Karoliina; Arauz, Antonio; Arnold, Marcel; Bae, Hee-Joon; Bandeo, Lucrecia; Barboza, Miguel A; Bolognese, Manuel; Bonardo, Pablo; Brouns, Raf; Chuluun, Batnairamdal; Chuluunbatar, Enkhzaya; Cordonnier, Charlotte; Dagvajantsan, Byambasuren; Debette, Stephanie; Don, Adi; Enzinger, Chris; Ekizoglu, Esme; Fandler-Höfler, Simon; Fazekas, Franz; Fromm, Annette; Gattringer, Thomas; Hora, Thiago F; Jern, Christina; Jood, Katarina; Kim, Young Seo; Kittner, Steven; Kleinig, Timothy; Klijn, Catharina J M; Kõrv, Janika; Kumar, Vinod; Lee, Keon-Joo; Lee, Tsong-Hai; Maaijwee, Noortje A M; Martinez-Majander, Nicolas; Marto, João Pedro; Mehndiratta, Man M; Mifsud, Victoria; Montanaro, Vinícius; Pacio, Gisele; Patel, Vinod B; Phillips, Matthew C; Piechowski-Jozwiak, Bartlomiej; Pikula, Aleksandra; Ruiz-Sandoval, Jose; von Sarnowski, Bettina; Swartz, Richard H; Tan, Kay-Sin; Tanne, David; Tatlisumak, Turgut; Thijs, Vincent; Viana-Baptista, Miguel; Vibo, Riina; Wu, Teddy Y; Yesilot, Nilüfer; Waje-Andreassen, Ulrike; Pezzini, Alessandro; Putaala, Jukka; Tuladhar, Anil M; de Leeuw, Frank-Erik

Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature

位于浮港综合征基因座之外的SRCAP截断变异会导致一种独特的神经发育障碍,并具有特定的DNA甲基化特征。

Rots, Dmitrijs; Chater-Diehl, Eric; Dingemans, Alexander J M; Goodman, Sarah J; Siu, Michelle T; Cytrynbaum, Cheryl; Choufani, Sanaa; Hoang, Ny; Walker, Susan; Awamleh, Zain; Charkow, Joshua; Meyn, Stephen; Pfundt, Rolph; Rinne, Tuula; Gardeitchik, Thatjana; de Vries, Bert B A; Deden, A Chantal; Leenders, Erika; Kwint, Michael; Stumpel, Constance T R M; Stevens, Servi J C; Vermeulen, Jeroen R; van Harssel, Jeske V T; Bosch, Danielle G M; van Gassen, Koen L I; van Binsbergen, Ellen; de Geus, Christa M; Brackel, Hein; Hempel, Maja; Lessel, Davor; Denecke, Jonas; Slavotinek, Anne; Strober, Jonathan; Crunk, Amy; Folk, Leandra; Wentzensen, Ingrid M; Yang, Hui; Zou, Fanggeng; Millan, Francisca; Person, Richard; Xie, Yili; Liu, Shuxi; Ousager, Lilian B; Larsen, Martin; Schultz-Rogers, Laura; Morava, Eva; Klee, Eric W; Berry, Ian R; Campbell, Jennifer; Lindstrom, Kristin; Pruniski, Brianna; Neumeyer, Ann M; Radley, Jessica A; Phornphutkul, Chanika; Schmidt, Berkley; Wilson, William G; Õunap, Katrin; Reinson, Karit; Pajusalu, Sander; van Haeringen, Arie; Ruivenkamp, Claudia; Cuperus, Roos; Santos-Simarro, Fernando; Palomares-Bralo, María; Pacio-Míguez, Marta; Ritter, Alyssa; Bhoj, Elizabeth; Tønne, Elin; Tveten, Kristian; Cappuccio, Gerarda; Brunetti-Pierri, Nicola; Rowe, Leah; Bunn, Jason; Saenz, Margarita; Platzer, Konrad; Mertens, Mareike; Caluseriu, Oana; Nowaczyk, Małgorzata J M; Cohn, Ronald D; Kannu, Peter; Alkhunaizi, Ebba; Chitayat, David; Scherer, Stephen W; Brunner, Han G; Vissers, Lisenka E L M; Kleefstra, Tjitske; Koolen, David A; Weksberg, Rosanna

Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

CACNA1C相关疾病的表型扩展,包括孤立性神经系统表现

Rodan, Lance H; Spillmann, Rebecca C; Kurata, Harley T; Lamothe, Shawn M; Maghera, Jasmine; Jamra, Rami Abou; Alkelai, Anna; Antonarakis, Stylianos E; Atallah, Isis; Bar-Yosef, Omer; Bilan, Frédéric; Bjorgo, Kathrine; Blanc, Xavier; Van Bogaert, Patrick; Bolkier, Yoav; Burrage, Lindsay C; Christ, Björn U; Granadillo, Jorge L; Dickson, Patricia; Donald, Kirsten A; Dubourg, Christèle; Eliyahu, Aviva; Emrick, Lisa; Engleman, Kendra; Gonfiantini, Michaela Veronika; Good, Jean-Marc; Kalser, Judith; Kloeckner, Chiara; Lachmeijer, Guus; Macchiaiolo, Marina; Nicita, Francesco; Odent, Sylvie; O'Heir, Emily; Ortiz-Gonzalez, Xilma; Pacio-Miguez, Marta; Palomares-Bralo, María; Pena, Loren; Platzer, Konrad; Quinodoz, Mathieu; Ranza, Emmanuelle; Rosenfeld, Jill A; Roulet-Perez, Eliane; Santani, Avni; Santos-Simarro, Fernando; Pode-Shakked, Ben; Skraban, Cara; Slaugh, Rachel; Superti-Furga, Andrea; Thiffault, Isabelle; van Jaabrsveld, Richard H; Vincent, Marie; Wang, Hong-Gang; Zacher, Pia; Rush, Eric; Pitt, Geoffrey S; Au, Ping Yee Billie; Shashi, Vandana

Schuurs-Hoeijmakers Syndrome (PACS1 Neurodevelopmental Disorder): Seven Novel Patients and a Review

Schuurs-Hoeijmakers 综合征(PACS1 神经发育障碍):七名新患者和综述

Tenorio-Castaño, Jair; Morte, Beatriz; Nevado, Julián; Martinez-Glez, Víctor; Santos-Simarro, Fernando; García-Miñaúr, Sixto; Palomares-Bralo, María; Pacio-Míguez, Marta; Gómez, Beatriz; Arias, Pedro; Alcochea, Alba; Carrión, Juan; Arias, Patricia; Almoguera, Berta; López-Grondona, Fermina; Lorda-Sanchez, Isabel; Galán-Gómez, Enrique; Valenzuela, Irene; Méndez Perez, María Pilar; Cuscó, Ivón; Barros, Francisco; Pié, Juan; Ramos, Sergio; Ramos, Feliciano J; Kuechler, Alma; Tizzano, Eduardo; Ayuso, Carmen; Kaiser, Frank J; Pérez-Jurado, Luis A; Carracedo, Ángel; The ENoD-Ciberer Consortium; The Side Consortium; Lapunzina, Pablo

ZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literature

ZTTK综合征:15例病例的临床和分子学发现及文献综述

Kushary, Sulagna Tina; Revah-Politi, Anya; Barua, Subit; Ganapathi, Mythily; Accogli, Andrea; Aggarwal, Vimla; Brunetti-Pierri, Nicola; Cappuccio, Gerarda; Capra, Valeria; Fagerberg, Christina R; Gazdagh, Gabriella; Guzman, Edwin; Hadonou, Medard; Harrison, Victoria; Havelund, Kathrine; Iancu, Daniela; Kraus, Alison; Lippa, Natalie C; Mansukhani, Mahesh; McBrian, Danielle; McEntagart, Meriel; Pacio-Míguez, Marta; Palomares-Bralo, María; Pottinger, Carrie; Ruivenkamp, Claudia A L; Sacco, Oliviero; Santen, Gijs W E; Santos-Simarro, Fernando; Scala, Marcello; Short, John; Sørensen, Kristina P; Woods, Christopher G; Anyane Yeboa, Kwame

Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

更正:CACNA1C相关疾病的表型扩展,包括孤立性神经系统表现

Rodan, Lance H; Spillmann, Rebecca C; Kurata, Harley T; Lamothe, Shawn M; Maghera, Jasmine; Jamra, Rami Abou; Alkelai, Anna; Antonarakis, Stylianos E; Atallah, Isis; Bar-Yosef, Omer; Bilan, Frédéric; Bjorgo, Kathrine; Blanc, Xavier; Van Bogaert, Patrick; Bolkier, Yoav; Burrage, Lindsay C; Christ, Björn U; Granadillo, Jorge L; Dickson, Patricia; Donald, Kirsten A; Dubourg, Christèle; Eliyahu, Aviva; Emrick, Lisa; Engleman, Kendra; Gonfiantini, Michaela Veronika; Good, Jean-Marc; Kalser, Judith; Kloeckner, Chiara; Lachmeijer, Guus; Macchiaiolo, Marina; Nicita, Francesco; Odent, Sylvie; O'Heir, Emily; Ortiz-Gonzalez, Xilma; Pacio-Miguez, Marta; Palomares-Bralo, María; Pena, Loren; Platzer, Konrad; Quinodoz, Mathieu; Ranza, Emmanuelle; Rosenfeld, Jill A; Roulet-Perez, Eliane; Santani, Avni; Santos-Simarro, Fernando; Pode-Shakked, Ben; Skraban, Cara; Slaugh, Rachel; Superti-Furga, Andrea; Thiffault, Isabelle; van Jaabrsveld, Richard H; Vincent, Marie; Wang, Hong-Gang; Zacher, Pia; Rush, Eric; Pitt, Geoffrey S; Au, Ping Yee Billie; Shashi, Vandana