Jianyan Pan

机构：Central South University · ORCID：0000-0002-0696-8261

发表论文 7 篇 · 总被引 49 次 · h-index 4

代表论文

• Detection of Spinal Muscular Atrophy Using a Duplexed Real-Time PCR Approach With Locked Nucleic Acid-Modified Primers (2020 · Annals of Laboratory Medicine · 被引 13)
• Whole-exome sequencing identifies genetic variants of hearing loss in 113 Chinese families (2022 · Clinica Chimica Acta · 被引 11)
• Diagnosis of Joubert Syndrome 10 in a Fetus with Suspected Dandy-Walker Variant by WES: A Novel Splicing Mutation in OFD1 (2018 · BioMed Research International · 被引 11)
• Identification of Five Novel Mutations Causing Rare Lysosomal Storage Diseases (2019 · Medical Science Monitor · 被引 7)
• Identification of four novel mutations in BTK from six Chinese families with X-linked agammaglobulinemia (2022 · Clinica Chimica Acta · 被引 4)
• [Clinical practice guidelines for spinal muscular atrophy]. (2020 · PubMed · 被引 3)