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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
- 2022
-
Mark
Implementing precision medicine in a regionally organized healthcare system in Sweden
(
- Contribution to journal › Letter
- 2021
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Mark
Helgenomanalys vid sällsynta diagnoser ger stor patientnytta
(
- Contribution to specialist publication or newspaper › Specialist publication article
-
Mark
Protocol for the derivation, culturing, and differentiation of human iPS-cell-derived neuroepithelial stem cells to study neural differentiation in vitro
(
- Contribution to journal › Article
-
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
-
Mark
SQSTM1/p62-Directed Metabolic Reprogramming Is Essential for Normal Neurodifferentiation
(
- Contribution to journal › Article
- 2017
-
Mark
Respiratory chain complex III deficiency due to mutated BCS1L : A novel phenotype with encephalomyopathy, partially phenocopied in a Bcs1l mutant mouse model
(
- Contribution to journal › Article
- 2015
-
Mark
A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9.
2015) In European Journal of Human Genetics(
- 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
- 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
- 2002
-
Mark
An androgen receptor gene mutation (E653K) in a family with congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency as well as in partial androgen insensitivity.
(
- Contribution to journal › Article
-
Mark
A full-coverage, high-resolution human chromosome 22 genomic microarray for clinical and research applications.
(
- Contribution to journal › Article
- 2001
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Mark
A novel mutation (N233K) in the transactivating domain and the N756S mutation in the ligand binding domain of the androgen receptor gene are associated with male infertility
(
- Contribution to journal › Article
- 2000
-
Mark
Response to treatment in patients with partial androgen insensitivity due to mutations in the DNA-binding domain of the androgen receptor
(
- Contribution to journal › Article