Associated Papers
Whole exome sequencing and functional validation identify CAPN1 variants as a cause of Chinese moyamoya disease.
Wang Y et al.
Genes & Diseases, 2024
38450100 (PubMed )
Supplement: mmc1.docx
Clinical phenotype of a Kallmann syndrome patient with IL17RD and CPEB4 variants.
Zhang J et al.
Frontiers in Endocrinology, 2024
Genetic spectrum of Kallmann syndrome: Single-center experience and systematic review.
Patil VA et al.
Clinical Endocrinology, 2022
36138264 (PubMed )
Supplement: supplement_1.xlsx › Sheet1
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