Associated Papers
Whole-Exome Sequencing for Molecular Diagnosis of Paediatric Nephrotic Syndrome in Africa: A Call for Implementation.
Gcobo T et al.
Genes, 2025
Genomic and clinical profiling of a national nephrotic syndrome cohort advocates a precision medicine approach to disease management.
Bierzynska A et al.
Kidney International, 2017
Nail-patella syndrome: report of 11 pediatric cases.
Figueroa-Silva O et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2016
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
Nail-patella syndrome. Overview on clinical and molecular findings.
Bongers EM et al.
Pediatric Nephrology (berlin, Germany), 2002
Mutation analysis of LMX1B gene in nail-patella syndrome patients.
McIntosh I et al.
American Journal of Human Genetics, 1998
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