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

Genome wide noninvasive prenatal testing detects microduplication of the distal end of chromosome 15 in a fetus: a case report

全基因组无创产前检测发现胎儿15号染色体远端微重复:病例报告

Sahinbegovic, Hana; Andres, Stephanie; Langer-Freitag, Sabine; Divane, Aspasia; Ieremiadou, Fotini; Mehmedbasic, Senad; Catic, Aida

Mosaic trisomy 12 diagnosed in a female patient: clinical features, genetic analysis, and review of the literature

女性患者确诊嵌合型12号染色体三体综合征:临床特征、基因分析及文献综述

Hainz, Daniela; Krüger, Marcus; Reber, Daniela; Mehnert, Karl; Brunet, Theresa; Lederer, Gabriele; Langer-Freitag, Sabine; Hoefele, Julia

Gene-rich chromosomal regions are preferentially localized in the lamin B deficient nuclear blebs of atypical progeria cells

富含基因的染色体区域优先定位于非典型早衰症细胞层粘蛋白B缺陷的核泡中。

Katrin Bercht Pfleghaar ,Pekka Taimen, Veronika Butin-Israeli, Takeshi Shimi, Sabine Langer-Freitag, Yolanda Markaki, Anne E Goldman, Manfred Wehnert, Robert D Goldman