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Anett Kaune
Institution:
Centogene (Germany)
Observed institution:
Centogene (Germany)
ORCID:
0009-0009-2308-1732
Observed ORCID:
0009-0009-2308-1732
OpenAlex ID:
A5085346793
An integrated multiomic approach as an excellent tool for the diagnosis of metabolic diseases: our first 3720 patients
2022
·
Ligia S. Almeida
, Catarina Pereira
, et al.
·
European Journal of Human Genetics
·
31
PDF
A Retrospective Cohort Study of the GLA c.937G > T, p.Asp313Tyr Variant With No Evidence of an Association With Fabry Disease
2025
·
Tobias Boettcher
, Christian Beetz
, et al.
·
Neurology Genetics
·
2
PDF
P219: Genetic, biochemical and clinical properties of GLA p.Asp313Tyr variant in a large German cohort
2024
·
Tobias Boettcher
, Christian Beetz
, et al.
·
Genetics in Medicine Open
OP033: An integrated multiomic panel as an excellent tool for the genetic diagnosis of metabolic diseases: Our first 3,720 patients
2022
·
Ligia Almeida
, Catarina Pereira
, et al.
·
Genetics in Medicine
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Works count:
4
Citation count:
33
H-index:
2
I10-index:
1
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