logo
科言猫学术研究的AI总结
language
手机端手机端
  • Phone Feature微信小程序
简体中文简体中文
notice消息通知
博客博客
arrow
B

Brage Storstein Andresen

biochemistry and molecular biology
H指数:49
被引数:7,470

个人简介

暂无内容

教育背景

暂无内容

工作经历

暂无内容

荣誉奖项

暂无内容

Oculocutaneous albinism variants in 28 consanguineous families and functional classification of a pathogenic deep intron variant in TYR

28个近亲婚配家庭中的眼皮肤白化病变异体及TYR基因中一个致病性深内含子变异体的功能分类

European Journal of Human Genetics
IF4.6
2026-03-110
OAAI
Muhammad Farooq; Gitte Hoffmann Bruun; Menachem V. K. Sarusie; Line Kessel; Hamna Akhtar; Uzma Abdullah; Zafar Ali; Sajjad Ali Shah; Nijat Ali; Iram Anjum; Thomas K. Doktor; Brage Storstein Andresen; Shahid Mahmood Baig; Lars Allan Larsen; Karen Grønskov
Improvement of Diagnostics in NSCLC Patients with MET Exon 14 Mutations Using Complementary DNA/RNA-NGS and Identification of Two Novel Exonic Splicing Mutations

MET外显子14突变非小细胞肺癌患者诊断方法的改进：采用互补DNA/RNA-NGS技术并鉴定两种新型外显子剪接突变

International Journal of Molecular Sciences 2026, Vol. 27, Page 106
IF4.9
2025-12-220
OAAI
Edyta Maria Urbanska; Thomas Koed Doktor; Linea Cecilie Melchior; Eva Stampe Petersson; Jens Benn Sørensen; Eric Santoni-Rugiu; Brage Storstein Andresen; Morten Grauslund
Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points-based ACMG/AMP approach

临床，剪接和功能分析以分类BRCA2外显子3变体: 基于点的ACMG/AMP方法的应用

HUMAN MUTATION
IF3.7
2022-10-236
OAAI
Thomassen, Mads; Mesman, Romy L. S.; Hansen, Thomas V. O.; Menendez, Mireia; Rossing, Maria; Esteban-Sanchez, Ada; Tudini, Emma; Torngren, Therese; Parsons, Michael T.; Pedersen, Inge S.; Teo, Soo H.; Kruse, Torben A.; Moller, Pal; Borg, Ake; Jensen, Uffe B.; Christensen, Lise L.; Singer, Christian F.; Muhr, Daniela; Santamarina, Marta; Brandao, Rita; Andresen, Brage S.; Feng, Bing-Jian; Canson, Daffodil; Richardson, Marcy E.; Karam, Rachid; Pesaran, Tina; LaDuca, Holly; Conner, Blair R.; Abualkheir, Nelly; Hoang, Lily; Calleja, Fabienne M. G. R.; Andrews, Lesley; James, Paul A.; Bunyan, Dave; Hamblett, Amanda; Radice, Paolo; Goldgar, David E.; Walker, Logan C.; Engel, Christoph; Claes, Kathleen B. M.; Machackova, Eva; Baralle, Diana; Viel, Alessandra; Wappenschmidt, Barbara; Lazaro, Conxi; Vega, Ana; Vreeswijk, Maaike P. G.; de la Hoya, Miguel; Spurdle, Amanda B.

研究方向

暂未获取到该数据
T
Thomas Koed Doktor
H 指数:18论文数:79被引数:1,784
N
Niels Gregersen
H 指数:54论文数:355被引数:1.0万
P
Peter Bross
H 指数:52论文数:204被引数:9,132
G
Gitte Hoffmann Bruun
H 指数:16论文数:35被引数:1,268
T
Thomas J. Corydon
H 指数:52论文数:245被引数:8,334
H
Henriette S. Andersen
H 指数:21论文数:46被引数:1,356
L
Lars Bolund
H 指数:81论文数:617被引数:3.2万
U
Ulrika Simone Spangsberg Petersen
H 指数:9论文数:12被引数:322
M
Maja Dembić
H 指数:10论文数:38被引数:459
L
Lise Lolle Holm
H 指数:8论文数:13被引数:282