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

Comparative RNA editing in autistic and neurotypical cerebella

自闭症和神经典型小脑中RNA编辑的比较

Eran, A; Li, J B; Vatalaro, K; McCarthy, J; Rahimov, F; Collins, C; Markianos, K; Margulies, D M; Brown, E N; Calvo, S E; Kohane, I S; Kunkel, L M

Haplotype structure enables prioritization of common markers and candidate genes in autism spectrum disorder

单倍型结构能够对自闭症谱系障碍中的常见标记和候选基因进行优先排序

Vardarajan, B N; Eran, A; Jung, J-Y; Kunkel, L M; Wall, D P

Peripheral blood gene expression signature differentiates children with autism from unaffected siblings

外周血基因表达特征可区分自闭症儿童与未受影响的兄弟姐妹

Kong, S W; Shimizu-Motohashi, Y; Campbell, M G; Lee, I H; Collins, C D; Brewster, S J; Holm, I A; Rappaport, L; Kohane, I S; Kunkel, L M

Stable expression of calpain 3 from a muscle transgene in vivo: immature muscle in transgenic mice suggests a role for calpain 3 in muscle maturation

体内肌肉转基因稳定表达钙蛋白酶3:转基因小鼠未成熟肌肉表明钙蛋白酶3在肌肉成熟中发挥作用

Spencer, M J; Guyon, J R; Sorimachi, H; Potts, A; Richard, I; Herasse, M; Chamberlain, J; Dalkilic, I; Kunkel, L M; Beckmann, J S

A genome-wide scan for linkage to human exceptional longevity identifies a locus on chromosome 4

一项针对人类超长寿命的全基因组连锁分析,在4号染色体上发现了一个基因位点。

Puca, A A; Daly, M J; Brewster, S J; Matise, T C; Barrett, J; Shea-Drinkwater, M; Kang, S; Joyce, E; Nicoli, J; Benson, E; Kunkel, L M; Perls, T

Myozenin: an alpha-actinin- and gamma-filamin-binding protein of skeletal muscle Z lines.

肌联蛋白:骨骼肌 Z 线中的 α-肌动蛋白和 γ-丝状蛋白结合蛋白

Takada F, Vander Woude D L, Tong H Q, Thompson T G, Watkins S C, Kunkel L M, Beggs A H

Analysis of human sarcospan as a candidate gene for CFEOM1

对人类肌膜蛋白作为先天性纤维化外眼炎1型(CFEOM1)候选基因的分析

O'Brien, K F; Engle, E C; Kunkel, L M

Genomic organization and single-nucleotide polymorphism map of desmuslin, a novel intermediate filament protein on chromosome 15q26.3

位于15q26.3染色体上的新型中间丝蛋白desmuslin的基因组结构和单核苷酸多态性图谱

Mizuno, Y; Puca, A A; O'Brien, K F; Beggs, A H; Kunkel, L M

Detection of mutations in the dystrophin gene via automated DHPLC screening and direct sequencing

利用自动化DHPLC筛选和直接测序检测肌营养不良蛋白基因突变

Bennett, R R; den Dunnen, J; O'Brien, K F; Darras, B T; Kunkel, L M

A mutation in the alpha 3 chain of type IX collagen causes autosomal dominant multiple epiphyseal dysplasia with mild myopathy

IX型胶原蛋白α3链的突变会导致常染色体显性遗传的多发性骨骺发育不良伴轻度肌病。

Bönnemann, C G; Cox, G F; Shapiro, F; Wu, J J; Feener, C A; Thompson, T G; Anthony, D C; Eyre, D R; Darras, B T; Kunkel, L M