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- 2024
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Mark
PARKIN is not required to sustain OXPHOS function in adult mammalian tissues
(
- Contribution to journal › Article
- 2021
-
Mark
First year of TREC-based national SCID screening in Sweden
(
- Contribution to journal › Article
- 2019
-
Mark
Mutations in the mitochondrial tryptophanyl-tRNA synthetase cause growth retardation and progressive leukoencephalopathy
(
- Contribution to journal › Article
- 2008
-
Mark
DAX1 locus duplications as a cause of isolated partial or complete 46,XY gonadal dysgenesis
(
- Contribution to journal › Published meeting abstract
-
Mark
Detection of submicroscopic constitutional chromosome aberrations in clinical diagnostics: a validation of the practical performance of different array platforms
(
- Contribution to journal › Article
-
Mark
Array-CGH identifies cyclin D1 and UBCH10 amplicons in anaplastic thyroid carcinoma.
(
- Contribution to journal › Article
- 2007
-
Mark
Isolated 46,XY gonadal dysgenesis in two sisters caused by a Xp21.2 interstitial duplication containing the DAX1 gene.
(
- Contribution to journal › Article
-
Mark
Comprehensive mutational analysis of a cohort of Swedish Cornelia de Lange syndrome patients
(
- Contribution to journal › Article