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

Functional consequence of pathogenic GABRA3 variants determines whether X-linked inheritance is dominant or recessive

致病性GABRA3变异的功能后果决定了X连锁遗传是显性遗传还是隐性遗传。

Johannesen, Katrine M; Aung, Khaing Phyu; Liao, Vivian Wy; Absalom, Nathan; Chua, Han C; Gan, Xue N; Mao, Miaomiao; McKenzie, Chaseley E; Lee, Hian M; Ortiz, Sebastian; Spillmann, Rebecca C; Shashi, Vandana; Radtke, Rodney A; Mirzaa, Ghayda M; Weisner, P Anne; Flores Daboub, Josue; Hagedorn, Caroline; Bayrak-Toydemir, Pinar; DeMille, Desiree; Zhao, Jian; Bajaj, Nandita; Capri, Yline; Keren, Boris; Schmidts, Miriam; van de Laar, Ingrid Mbh; van Slegtenhorst, Marjon A; Ploski, Rafal; Bogotko, Marta; Bourque, Danielle K; Alkhunaizi, Ebba; Chad, Lauren; Quercia, Nada; Elloumi, Houda; Wentzensen, Ingrid M; Kruer, Michael C; Bisarad, Pritha; Galaz-Montoya, Carolina I; Rusu, Violeta; Braun, Dominique; Angione, Katie; Win, Jessica C; Espinosa-Jovel, Camilo; Zacher, Pia; Platzer, Konrad; Berkovic, Samuel F; Scheffer, Ingrid E; Chebib, Mary; Rubboli, Guido; Møller, Rikke S; Reid, Christopher A; Ahring, Philip K

Coupling metabolomics and exome sequencing reveals graded effects of rare damaging heterozygous variants on gene function and human traits

代谢组学与外显子组测序相结合,揭示了罕见有害杂合变异对基因功能和人类性状的分级影响

Scherer, Nora; Fässler, Daniel; Borisov, Oleg; Cheng, Yurong; Schlosser, Pascal; Wuttke, Matthias; Haug, Stefan; Li, Yong; Telkämper, Fabian; Patil, Suraj; Meiselbach, Heike; Wong, Casper; Berger, Urs; Sekula, Peggy; Hoppmann, Anselm; Schultheiss, Ulla T; Mozaffari, Sahar; Xi, Yannan; Graham, Robert; Schmidts, Miriam; Köttgen, Michael; Oefner, Peter J; Knauf, Felix; Eckardt, Kai-Uwe; Grünert, Sarah C; Estrada, Karol; Thiele, Ines; Hertel, Johannes; Köttgen, Anna

Field and farm-level data on agricultural land use for the European Union

欧盟农业用地利用的田间和农场层面数据

Jänicke, Clemens; Petersen, Kristoffer Ansbak; Schmidts, Phillip; Müller, Daniel; Jepsen, Martin Rudbeck

Efficient accumulation of new irregular monoterpene malonyl glucosides in Nicotiana benthamiana achieved by co-expression of isoprenyl diphosphate synthases and substrate-producing enzymes

通过共表达异戊二烯基二磷酸合成酶和底物生成酶,实现了本氏烟草中新型不规则单萜丙二酰葡萄糖苷的高效积累

Gerasymenko, Iryna; Sheludko, Yuriy V; Schmidts, Volker; Warzecha, Heribert

A homozygous human WNT11 variant is associated with laterality, heart and renal defects

人类WNT11基因纯合变异与侧别异常、心脏和肾脏缺陷相关。

Henrike Berns ,Damian Weber ,Maximilian Haas ,Zeineb Bakey ,Magdalena Maria Brislinger-Engelhardt ,Miriam Schmidts ,Peter Walentek

IUC22940-82 A 7-year review of robot-assisted vs laparoscopic radical nephrectomy at a UK district general hospital (2018-2024)

IUC22940-82 英国某地区综合医院机器人辅助根治性肾切除术与腹腔镜根治性肾切除术7年回顾(2018-2024)

Pazour, Gregory J; Quarmby, Lynne; Smith, Abigail O; Desai, Paurav B; Schmidts, Miriam; Hossain, A; Khan, S; Albnhawy, A

Phase 1 study of CAR-37 T cells in patients with relapsed or refractory CD37+ lymphoid malignancies

CAR-37 T 细胞治疗复发或难治性 CD37+ 淋巴瘤患者的 I 期研究

Frigault, Matthew J; Graham, Charlotte E; Berger, Trisha R; Ritchey, Julie; Horick, Nora K; El-Jawahri, Areej; Scarfò, Irene; Schmidts, Andrea; Haradhvala, Nicholas J; Wehrli, Marc; Lee, Won-Ho; Parker, Aiyana L; Wiggin, Hadley R; Bouffard, Amanda; Dey, Aonkon; Leick, Mark B; Katsis, Katelin; Elder, Eva L; Dolaher, Maria A; Cook, Daniella T; Chekmasova, Alena A; Huang, Lu; Nikiforow, Sarah; Daley, Heather; Ritz, Jerome; Armant, Myriam; Preffer, Fred; DiPersio, John F; Nardi, Valentina; Chen, Yi-Bin; Gallagher, Kathleen M E; Maus, Marcela V

Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders

ACBD6双等位基因变异会导致一种神经发育综合征,伴有进行性且复杂的运动障碍。

Kaiyrzhanov, Rauan; Rad, Aboulfazl; Lin, Sheng-Jia; Bertoli-Avella, Aida; Kallemeijn, Wouter W; Godwin, Annie; Zaki, Maha S; Huang, Kevin; Lau, Tracy; Petree, Cassidy; Efthymiou, Stephanie; Karimiani, Ehsan Ghayoor; Hempel, Maja; Normand, Elizabeth A; Rudnik-Schöneborn, Sabine; Schatz, Ulrich A; Baggelaar, Marc P; Ilyas, Muhammad; Sultan, Tipu; Alvi, Javeria Raza; Ganieva, Manizha; Fowler, Ben; Aanicai, Ruxandra; Tayfun, Gulsen Akay; Al Saman, Abdulaziz; Alswaid, Abdulrahman; Amiri, Nafise; Asilova, Nilufar; Shotelersuk, Vorasuk; Yeetong, Patra; Azam, Matloob; Babaei, Meisam; Monajemi, Gholamreza Bahrami; Mohammadi, Pouria; Samie, Saeed; Banu, Selina Husna; Pinto Basto, Jorge; Kortüm, Fanny; Bauer, Mislen; Bauer, Peter; Beetz, Christian; Garshasbi, Masoud; Issa, Awatif Hameed; Eyaid, Wafaa; Ahmed, Hind; Hashemi, Narges; Hassanpour, Kazem; Herman, Isabella; Ibrohimov, Sherozjon; Abdul-Majeed, Ban A; Imdad, Maria; Isrofilov, Maksudjon; Kaiyal, Qassem; Khan, Suliman; Kirmse, Brian; Koster, Janet; Lourenço, Charles Marques; Mitani, Tadahiro; Moldovan, Oana; Murphy, David; Najafi, Maryam; Pehlivan, Davut; Rocha, Maria Eugenia; Salpietro, Vincenzo; Schmidts, Miriam; Shalata, Adel; Mahroum, Mohammad; Talbeya, Jawabreh Kassem; Taylor, Robert W; Vazquez, Dayana; Vetro, Annalisa; Waterham, Hans R; Zaman, Mashaya; Schrader, Tina A; Chung, Wendy K; Guerrini, Renzo; Lupski, James R; Gleeson, Joseph; Suri, Mohnish; Jamshidi, Yalda; Bhatia, Kailash P; Vona, Barbara; Schrader, Michael; Severino, Mariasavina; Guille, Matthew; Tate, Edward W; Varshney, Gaurav K; Houlden, Henry; Maroofian, Reza

Clinical and neuroradiological spectrum of biallelic variants in NOTCH3

NOTCH3基因双等位基因变异的临床和神经放射学表现谱

Iruzubieta, Pablo; Alves, César Augusto Pinheiro Ferreira; Al Shamsi, Aisha M; ElGhazali, Gehad; Zaki, Maha S; Pinelli, Lorenzo; Lopergolo, Diego; Cho, Bernard P H; Jolly, Amy A; Al Futaisi, Amna; Al-Amrani, Fatema; Galli, Jessica; Fazzi, Elisa; Vulin, Katarina; Barajas-Olmos, Francisco; Hengel, Holger; Aljamal, Bayan Mohammed; Nasr, Vahideh; Assarzadegan, Farhad; Ragno, Michele; Trojano, Luigi; Ojeda, Naomi Meave; Çakar, Arman; Bianchi, Silvia; Pescini, Francesca; Poggesi, Anna; Al Tenalji, Amal; Aziz, Majid; Mohammad, Rahema; Chedrawi, Aziza; De Stefano, Nicola; Zifarelli, Giovanni; Schöls, Ludger; Haack, Tobias B; Rebelo, Adriana; Zuchner, Stephan; Koc, Filiz; Griffiths, Lyn R; Orozco, Lorena; Helmes, Karla García; Babaei, Meisam; Bauer, Peter; Chan Jeong, Won; Karimiani, Ehsan Ghayoor; Schmidts, Miriam; Gleeson, Joseph G; Chung, Wendy K; Alkuraya, Fowzan Sami; Shalbafan, Bita; Markus, Hugh S; Houlden, Henry; Maroofian, Reza

Mesothelin CAR T Cells Secreting Anti-FAP/Anti-CD3 Molecules Efficiently Target Pancreatic Adenocarcinoma and its Stroma

分泌抗FAP/抗CD3分子的间皮素CAR T细胞可有效靶向胰腺腺癌及其间质

Marc Wehrli # ,Samantha Guinn # ,Filippo Birocchi # ,Adam Kuo ,Yi Sun ,Rebecca C Larson ,Antonio J Almazan ,Irene Scarfò ,Amanda A Bouffard ,Stefanie R Bailey ,Praju Vikas Anekal ,Paula Montero Llopis ,Linda T Nieman ,Yuhui Song ,Katherine H Xu ,Trisha R Berger ,Michael C Kann ,Mark B Leick ,Harrison Silva ,Diego Salas-Benito ,Tamina Kienka ,Korneel Grauwet ,Todd D Armstrong ,Rui Zhang ,Qingfeng Zhu ,Juan Fu ,Andrea Schmidts ,Felix Korell ,Max Jan ,Bryan D Choi ,Andrew S Liss ,Genevieve M Boland ,David T Ting ,Richard A Burkhart ,Russell W Jenkins ,Lei Zheng ,Elizabeth M Jaffee ,Jacquelyn W Zimmerman ,Marcela V Maus