arrow
T

Tim Van Damme

ghent university hospital
H指数:16
被引数:2,931

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

Cracking rare disorders: a new minimally invasive RNA-seq protocol

破解罕见疾病:一种新的微创RNA测序方案

2025-05-280
OAAI
RNA-sequencing unveils FLT4 splice site variants in variable congenital heart disease (Jan, 10.1038/s41431-025-01788-y, 2025)

RNA测序揭示了可变先天性心脏病中的FLT4剪接位点变异 (1月,10.1038/s41431-025-01788-y,2025)

2025-04-010
PRE
Myhre syndrome in adulthood: clinical variability and emerging genotype-phenotype correlations ( vol 32, pg 1086, 2024)
2024-09-100
PRE
Myhre syndrome in adulthood: clinical variability and emerging genotype-phenotype correlations
2024-07-124
PRE
Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa (vol 100, pg 216, 2017)
2020-08-017
OAAI
Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers-Danlos syndrome
2018-06-2031
PREAI
Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa

ATP6V1E1或ATP6V1A突变引起常染色体隐性皮肤松弛

2017-02-0187
OAAI
Genetic Heterogeneity and Clinical Variability in Musculocontractural Ehlers-Danlos Syndrome Caused by Impaired Dermatan Sulfate Biosynthesis

硫酸皮肤素生物合成受损引起的肌肉收缩ehlers-danlos综合征的遗传异质性和临床变异性

2015-04-0662
PREAI
Defective Initiation of Glycosaminoglycan Synthesis due to B3GALT6 Mutations Causes a Pleiotropic Ehlers-Danlos-Syndrome-like Connective Tissue Disorder
2013-06-01111
OAAI
Comprehensive Clinical and Molecular Analysis of 12 Families with Type 1 Recessive Cutis Laxa

12个1型隐性皮肤松弛家系的综合临床和分子分析

2012-08-1371
OA