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

Splicing and frameshift variants in QSER1 may be involved in developmental phenotypes

QSER1中的剪接和移码变异可能与发育表型有关。

Fischer, Megan C; Reis, Linda M; Lenberg, Jerica; Friedman, Jennifer; Seese, Sarah E; Muheisen, Sanaa; Writzl, Karin; Golob, Barbara; Peterlin, Borut; Semina, Elena V

Schistosoma japonicum infection: clinical significance of ultrasound findings

日本血吸虫感染:超声检查结果的临床意义

Richter, Joachim; Wu, Hannah Wei; Ning, An; Jiz, Mario A; Aniceto, Ralph; Friedman, Jennifer; Neumayr, Andreas; Hatz, Christoph

Consensus guidelines for assessing eligibility of pathogenic DNA variants for antisense oligonucleotide treatments

评估致病性DNA变异是否适合接受反义寡核苷酸治疗的共识指南

Cheerie, David; Meserve, Margaret M; Beijer, Danique; Kaiwar, Charu; Newton, Logan; Taylor Tavares, Ana Lisa; Verran, Aubrie Soucy; Sherrill, Emma; Leonard, Stefanie; Sanders, Stephan J; Blake, Emily; Elkhateeb, Nour; Gandhi, Aastha; Liang, Nicole S Y; Morgan, Jack T; Verwillow, Anna; Verheijen, Jan; Giles, Andrew; Williams, Sean; Chopra, Maya; Croft, Laura; Dafsari, Hormos Salimi; Davidson, Alice E; Friedman, Jennifer; Gregor, Anne; Haque, Bushra; Lechner, Rosan; Montgomery, Kylie-Ann; Ryten, Mina; Schober, Emil; Siegel, Gabriele; Sullivan, Patricia J; Whittle, Ella F; Zardetto, Bianca; Yu, Timothy W; Synofzik, Matthis; Aartsma-Rus, Annemieke; Costain, Gregory; Lauffer, Marlen C

Clinical characterization of Collagen XII-related disease caused by biallelic COL12A1 variants.

由双等位基因 COL12A1 变异引起的 XII 型胶原蛋白相关疾病的临床特征

McCarty Riley M, Saade Dimah, Munot Pinki, Laverty Chamindra G, Pinz Hailey, Zou Yaqun, McAnally Meghan, Yun Pomi, Tian Cuixia, Hu Ying, Feng Lucy, Phadke Rahul, Ceulemans Sophia, Magoulas Pilar, Skalsky Andrew J, Friedman Jennifer R, Braddock Stephen R, Neuhaus Sarah B, Malicki Denise M, Bainbridge Matthew N, Nahas Shareef, Dimmock David P, Kingsmore Stephen F, Lotze Timothy E, Foley A Reghan, Muntoni Francesco, Straub Volker, Donkervoort Sandra, Bönnemann Carsten G

Description of four cases of male genital schistosomiasis (MGS) in children and adolescents, with a scoping review

对四例儿童和青少年男性生殖器血吸虫病(MGS)病例进行描述,并进行范围界定综述。

Richter, Joachim; Kayuni, Sekeleghe A; Stothard, J Russell; Ramarokoto, Charles Émile; Lindner, Andreas K; Fusco, Daniela; Feldmeier, Hermann; Bustinduy, Amaya L; Friedman, Jennifer F

Associations of poor water, sanitation, and hygiene and parasite burden with markers of environmental enteric dysfunction in preschool-age children infected with Schistosoma mansoni in Uganda

乌干达学龄前儿童感染曼氏血吸虫后,水质差、卫生条件差、个人卫生不良以及寄生虫感染与环境性肠道功能障碍指标之间的关联

Colt, Susannah; Edielu, Andrew; Lewander, David; Wu, Hannah W; Webb, Emily L; Mawa, Patrice A; Nakyesige, Racheal; Ayebazibwe, A Gloria K; Friedman, Jennifer F; Bustinduy, Amaya L

Clinical and Neurodevelopmental Characteristics of Paralogous Gain-of-Function Variants at GRIA2 p.Gly792 and GRIA3 p.Gly803

GRIA2 p.Gly792 和 GRIA3 p.Gly803 位点旁系同源功能获得性变异的临床和神经发育特征

Sjøstrøm, Emilie; Studniarczyk, Dorota; Dou, Xinyao; Dahl, Rebekka S; Cruz, Vincent; Wang, Heng; Mercier, Sandra; Deb, Wallid; Besnard, Thomas; Friedman, Jennifer; Essid, Miriam; Karoui, Sana; Jemaa, Lamia Ben; Benyounes, Thouraya; Lesca, Gaetan; Tonduti, Davide; Iascone, Maria; Orcesi, Simona; Fradin, Melanie; Dubourg, Christèle; Napuri, Silvia; Cull-Candy, Stuart G; Coombs, Ian D; Farrant, Mark; Bayat, Allan

Consolidating the Role of Mutated ATP2B2 in Neurodevelopmental and Cerebellar Pathologies

巩固突变型 ATP2B2 在神经发育和小脑病理学中的作用

Stehr, Antonia M; Lenberg, Jerica; Friedman, Jennifer; Dobbelaere, Dries; Imbard, Apolline; Levy, Jonathan; Donoghue, Sarah; Derive, Nicolas; Stoeva, Radka; Gueguen, Paul; Zech, Michael

Post-ictal Psychosis: clinical case presentation and literature review

发作后精神病:临床病例介绍及文献综述

Cif, Laura; Demailly, Diane; Lin, Jean-Pierre; Barwick, Katy E; Sa, Mario; Abela, Lucia; Malhotra, Sony; Chong, Wui K; Steel, Dora; Sanchis-Juan, Alba; Ngoh, Adeline; Trump, Natalie; Meyer, Esther; Vasques, Xavier; Rankin, Julia; Allain, Meredith W; Applegate, Carolyn D; Isfahani, Sanaz Attaripour; Baleine, Julien; Balint, Bettina; Bassetti, Jennifer A; Baple, Emma L; Bhatia, Kailash P; Blanchet, Catherine; Burglen, Lydie; Cambonie, Gilles; Seng, Emilie Chan; Bastaraud, Sandra Chantot; Cyprien, Fabienne; Coubes, Christine; d'Hardemare, Vincent; Doja, Asif; Dorison, Nathalie; Doummar, Diane; Dy-Hollins, Marisela E; Farrelly, Ellyn; Fitzpatrick, David R; Fearon, Conor; Fieg, Elizabeth L; Fogel, Brent L; Forman, Eva B; Fox, Rachel G; Gahl, William A; Galosi, Serena; Gonzalez, Victoria; Graves, Tracey D; Gregory, Allison; Hallett, Mark; Hasegawa, Harutomo; Hayflick, Susan J; Hamosh, Ada; Hully, Marie; Jansen, Sandra; Jeong, Suh Young; Krier, Joel B; Krystal, Sidney; Kumar, Kishore R; Laurencin, Chloé; Lee, Hane; Lesca, Gaetan; François, Laurence Lion; Lynch, Timothy; Mahant, Neil; Martinez-Agosto, Julian A; Milesi, Christophe; Mills, Kelly A; Mondain, Michel; Morales-Briceno, Hugo; Ostergaard, John R; Pal, Swasti; Pallais, Juan C; Pavillard, Frédérique; Perrigault, Pierre-Francois; Petersen, Andrea K; Polo, Gustavo; Poulen, Gaetan; Rinne, Tuula; Roujeau, Thomas; Rogers, Caleb; Roubertie, Agathe; Sahagian, Michelle; Schaefer, Elise; Selim, Laila; Selway, Richard; Sharma, Nutan; Signer, Rebecca; Soldatos, Ariane G; Stevenson, David A; Stewart, Fiona; Tchan, Michel; Verma, Ishwar C; de Vries, Bert B A; Wilson, Jenny L; Wong, Derek A; Zaitoun, Raghda; Zhen, Dolly; Znaczko, Anna; Dale, Russell C; de Gusmão, Claudio M; Friedman, Jennifer; Fung, Victor S C; King, Mary D; Mohammad, Shekeeb S; Rohena, Luis; Waugh, Jeff L; Toro, Camilo; Raymond, F Lucy; Topf, Maya; Coubes, Philippe; Gorman, Kathleen M; Kurian, Manju A; Ramalheira, F; Vasconcelos, M D C; Andrade, M; Pereira, M

Domain specific phenotypic expansion associated with variants in MACF1

MACF1基因变异相关的结构域特异性表型扩展

Gogate, Nikhita; Jolly, Angad; Rosenfeld, Jill A; Bahena-Carbajal, Paulina; Bernstein, Jonathan A; Bonner, Devon; Busa, Tiffany; Cristian, Ingrid; D'Souza, Precilla; Friedman, Jennifer; Gorokhova, Svetlana; Haaf, Thomas; Herman, Isabella; Isin, Ugur Ufuk; Jhangiani, Shalini N; Johnson, Ivy; Lenberg, Jerica; Macnamara, Ellen F; Maroofian, Reza; Redlich, Olivia L; Tifft, Cynthia; Tos, Tulay; Vona, Barbara; Zambrano, Regina M; Wentzensen, Ingrid M; Wigby, Kristen; Pehlivan, Davut; Gibbs, Richard A; Lupski, James R; Posey, Jennifer E