Associated Papers
Newborn Screening for X-Linked Adrenoleukodystrophy (X-ALD): Biochemical, Molecular, and Clinical Characteristics of Other Genetic Conditions.
Mares Beltran CF et al.
Genes, 2024
Extreme intratumour heterogeneity and driver evolution in mismatch repair deficient gastro-oesophageal cancer.
von Loga K et al.
Nature Communications, 2020
31949146 (PubMed )
Supplement: 41467_2019_13915_MOESM4_ESM.xlsx › Tumor_1
Expanding the clinical and genetic spectrum of Heimler syndrome.
Gao FJ et al.
Orphanet Journal of Rare Diseases, 2019
31831025 (PubMed )
Supplement: 13023_2019_1243_MOESM5_ESM.pdf
Structural Mapping of Missense Mutations in the Pex1/Pex6 Complex.
Schieferdecker A et al.
International Journal of Molecular Sciences, 2019
The cholic acid extension study in Zellweger spectrum disorders: Results and implications for therapy.
Klouwer FCC et al.
Journal of Inherited Metabolic Disease, 2019
The use of targeted genomic capture and massively parallel sequencing in diagnosis of Chinese Leukoencephalopathies.
Wang X et al.
Scientific Reports, 2016
Genes for spinocerebellar ataxia with blindness and deafness (SCABD/SCAR3, MIM# 271250 and SCABD2).
Guissart C et al.
European Journal of Human Genetics : Ejhg, 2016
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