Thema
Journal Article
12
Case Reports
6
NGS
4
Becker disease
3
CLCN1
3
CLC-1 channel
2
Chloride Channels
2
F484L
2
Haloplex
2
Ion Torrent
2
Next Generation Sequencing
2
Research Support, Non-U.S. Gov't
2
Thomsen myotonia
2
arrhythmogenic cardiomyopathy
2
gene panels
2
primary immunodeficiencies
2
610
1
ACTG1
1
ACTG1 protein, human
1
AU0V1LM3JT
1
Actins
1
Alu repeats recombination
1
BRWS2
1
Baraitser-Winter syndrome
1
Biomarkers
1
Cardiac Myosins
1
Contrast Media
1
DSP protein, human
1
EC 2.7.10.2
1
EC 3.6.1.-
1
EC 3.6.4.1
1
FBN1
1
FBN1 protein, human
1
Fibrillin-1
1
Gadolinium
1
Gene variants
1
JAK3 novel mutations
1
JAK3 protein, human
1
Janus Kinase 3
1
LMNA
1
MFS
1
MYH7 gene
1
MYH7 protein, human
1
Marfan syndrome
1
Medicine & Pharmacology
1
Myosin Heavy Chains
1
Myotonia Congenita
1
NAV1.5 Voltage-Gated Sodium Channel
1
Published Erratum
1
SCID
1
mehr ...