Associated Papers
Improving diagnostic precision in primary ovarian insufficiency using comprehensive genetic and autoantibody testing.
Vogt EC et al.
Human Reproduction (oxford, England), 2024
37953503 (PubMed )
Supplement: dead233_supplementary_data_file_s1.docx
Novel, clinically relevant genomic patterns identified by comprehensive genomic profiling in ATRX-deficient IDH-wildtype adult high-grade gliomas.
Bedics G et al.
Scientific Reports, 2023
37891325 (PubMed )
Supplement: 41598_2023_45786_MOESM2_ESM.xlsx › Table_S2
Ganglioglioma with novel molecular features presenting in a child with Allan-Herndon-Dudley syndrome.
Adams JW et al.
Bmj Case Reports, 2022
Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases.
Chen R et al.
Nature Biotechnology, 2016
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