Associated Papers
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 2025
40604033 (PubMed )
Supplement: 41598_2025_8012_MOESM1_ESM.xlsx › S3
Congenital nephrotic syndrome associated with 22q11.2 duplication syndrome in a Chinese family and functional analysis of the intronic NPHS1 c. 3286 + 5G > A mutation.
Li L et al.
Italian Journal of Pediatrics, 2019
Analysis of 14 Patients With Congenital Nephrotic Syndrome.
Chen Y et al.
Frontiers in Pediatrics, 2019
Spectrum of mutations in Chinese children with steroid-resistant nephrotic syndrome.
Wang F et al.
Pediatric Nephrology (berlin, Germany), 2017
Novel NPHS1 Gene Mutations in two Chinese Infants with Congenital Nephrotic Syndrome.
Li P
Indian Journal of Pediatrics, 2017
[Infantile spasm associated with 5q14.3 microdeletion syndrome: clinical and genetic characterization of a core family].
Yu D et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2015
[NPHS1 mutations in a Chinese family with congenital nephrotic syndrome].
Shi Y et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2005
The Frequency of Genetic Mutations in Pediatric Patients Diagnosed with Nephrotic Syndrome: A Single-Center Retrospective Study in Saudi Arabia.
Almokali K et al.
Saudi Journal of Kidney Diseases and Transplantation : an Official Publication of the Saudi Center for Organ Transplantation, Saudi Arabia, 0
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