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

Phylogenetic history of patrilineages rare in northern and eastern Europe from large-scale re-sequencing of human Y-chromosomes

通过对人类Y染色体进行大规模重测序,揭示北欧和东欧罕见父系谱系的系统发育历史

Ilumäe, Anne-Mai; Post, Helen; Flores, Rodrigo; Karmin, Monika; Sahakyan, Hovhannes; Mondal, Mayukh; Montinaro, Francesco; Saag, Lauri; Bormans, Concetta; Sanchez, Luisa Fernanda; Ameur, Adam; Gyllensten, Ulf; Kals, Mart; Mägi, Reedik; Pagani, Luca; Behar, Doron M; Rootsi, Siiri; Villems, Richard

The genetic variation in the R1a clade among the Ashkenazi Levites' Y chromosome

阿什肯纳兹利未人Y染色体中R1a分支的遗传变异

Behar, Doron M; Saag, Lauri; Karmin, Monika; Gover, Meir G; Wexler, Jeffrey D; Sanchez, Luisa Fernanda; Greenspan, Elliott; Kushniarevich, Alena; Davydenko, Oleg; Sahakyan, Hovhannes; Yepiskoposyan, Levon; Boattini, Alessio; Sarno, Stefania; Pagani, Luca; Carmi, Shai; Tzur, Shay; Metspalu, Ene; Bormans, Concetta; Skorecki, Karl; Metspalu, Mait; Rootsi, Siiri; Villems, Richard

Intellectual disability and non-compaction cardiomyopathy with a de novo NONO mutation identified by exome sequencing

外显子组测序发现一种新生NONO突变,该突变导致智力障碍和非致密性心肌病。

Reinstein, Eyal; Tzur, Shay; Cohen, Rony; Bormans, Concetta; Behar, Doron M

Congenital dilated cardiomyopathy caused by biallelic mutations in Filamin C.

由丝状蛋白C双等位基因突变引起的先天性扩张型心肌病

Reinstein Eyal, Gutierrez-Fernandez Ana, Tzur Shay, Bormans Concetta, Marcu Shai, Tayeb-Fligelman Einav, Vinkler Chana, Raas-Rothschild Annick, Irge Dana, Landau Meytal, Shohat Mordechai, Puente Xose S, Behar Doron M, Lopez-Otın Carlos

A novel 154-bp deletion in the human mitochondrial DNA control region in healthy individuals

健康个体中人类线粒体DNA控制区存在一种新的154 bp缺失

Behar, Doron M; Blue-Smith, Jason; Soria-Hernanz, David F; Tzur, Shay; Hadid, Yarin; Bormans, Concetta; Moen, Alexander; Tyler-Smith, Chris; Quintana-Murci, Lluis; Wells, R Spencer