Associated Papers
Clinical spectrum and molecular basis in 19 Chinese patients with 46, XY disorder of sexual development caused by NR5A1 mutations.
Xu Y et al.
Orphanet Journal of Rare Diseases, 2024
39623453 (PubMed )
Supplement: 13023_2024_3472_MOESM1_ESM.docx
NR5A1/SF-1 Collaborates with Inhibin α and the Androgen Receptor.
Naamneh Elzenaty R et al.
International Journal of Molecular Sciences, 2024
39337600 (PubMed )
Supplement: ijms-25-10109-s001.zip › ijms-3175587-supplementary.pdf
Whole exome sequencing with a focus on cardiac disease-associated genes in families of sudden unexplained deaths in Yunnan, southwest of China.
Wei SJ et al.
Bmc Genomics, 2023
36721086 (PubMed )
Supplement: 12864_2022_9097_MOESM2_ESM.xls › Sheet1
Molecular characterization of sub-frontal recurrent medulloblastomas reveals potential clinical relevance.
Chen Z et al.
Frontiers in Neurology, 2023
37181548 (PubMed )
Supplement: Data_Sheet_2.xlsx › Germline_mutation-case_2
Next-generation sequencing reveals genetic landscape in 46, XY disorders of sexual development patients with variable phenotypes.
Wang H et al.
Human Genetics, 2018
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