Associated Papers
Expanded noninvasive prenatal screening for dominant single-gene disorders: proof-of-concept, performance, and challenges.
Chen S et al.
American Journal of Obstetrics and Gynecology, 2025
A case of concurrent Alport syndrome and Nail-patella syndrome posing diagnostic challenge without genetic testing.
Fung WW et al.
Bmc Nephrology, 2025
The implementation of genome sequencing in rare genetic diseases diagnosis: a pilot study from the Hong Kong genome project.
Lam WKJ et al.
The Lancet Regional Health. Western Pacific, 2025
39944418 (PubMed )
Supplement: mmc1.docx
Nail-Patella Syndrome: clinical and molecular data in 55 families raising the hypothesis of a genetic heterogeneity.
Ghoumid J et al.
European Journal of Human Genetics : Ejhg, 2016
Kidney disease in nail-patella syndrome.
Lemley KV
Pediatric Nephrology (berlin, Germany), 2009
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