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

Mutations in DHDPSL are responsible for primary hyperoxaluria type III

DHDPSL基因突变是原发性高草酸尿症III型的致病原因。

Belostotsky, Ruth; Seboun, Eric; Idelson, Gregory H; Milliner, Dawn S; Becker-Cohen, Rachel; Rinat, Choni; Monico, Carla G; Feinstein, Sofia; Ben-Shalom, Efrat; Magen, Daniella; Weissman, Irith; Charon, Celine; Frishberg, Yaacov

Autosomal-dominant distal myopathy associated with a recurrent missense mutation in the gene encoding the nuclear matrix protein, matrin 3

常染色体显性遗传性远端肌病与编码核基质蛋白 matrin 3 的基因中复发性错义突变相关

Senderek, Jan; Garvey, Sean M; Krieger, Michael; Guergueltcheva, Velina; Urtizberea, Andoni; Roos, Andreas; Elbracht, Miriam; Stendel, Claudia; Tournev, Ivailo; Mihailova, Violeta; Feit, Howard; Tramonte, Jeff; Hedera, Peter; Crooks, Kristy; Bergmann, Carsten; Rudnik-Schöneborn, Sabine; Zerres, Klaus; Lochmüller, Hanns; Seboun, Eric; Weis, Joachim; Beckmann, Jacques S; Hauser, Michael A; Jackson, Charles E

Vocal cord and pharyngeal weakness with autosomal dominant distal myopathy: clinical description and gene localization to 5q31

声带和咽部无力伴常染色体显性远端肌病:临床描述及基因定位至5q31

Feit, H; Silbergleit, A; Schneider, L B; Gutierrez, J A; Fitoussi, R P; Réyès, C; Rouleau, G A; Brais, B; Jackson, C E; Beckmann, J S; Seboun, E

A causative relationship between mutant IFNgR1 alleles and impaired cellular response to IFNgamma in a compound heterozygous child

复合杂合子儿童中突变型 IFNγR1 等位基因与 IFNγ 细胞反应受损之间的因果关系

Altare, F; Jouanguy, E; Lamhamedi-Cherradi, S; Fondanéche, M C; Fizame, C; Ribiérre, F; Merlin, G; Dembic, Z; Schreiber, R; Lisowska-Grospierre, B; Fischer, A; Seboun, E; Casanova, J L

Unusual organization of the human T-cell receptor beta-chain gene complex is linked to recombination hotspots

人类T细胞受体β链基因复合体的异常组织与重组热点有关

Seboun, E; Houghton, L; Hatem, C J Jr; Lincoln, R; Hauser, S L

Insertion/deletion-related polymorphisms in the human T cell receptor beta gene complex

人类T细胞受体β基因复合体中的插入/缺失相关多态性

Seboun, E; Robinson, M A; Kindt, T J; Hauser, S L