Hilbert, Pascale

Top Publications

Top Publications Authored or Co-Authored by "Hilbert, Pascale"

• Recommendations for locus-specific databases and their curation

  Human Mutation, Volume 29, No. 1, Year 2008, Citations 59
• Mutational analysis in patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD): Identification of five mutations in the PKD1 gene

  Gene, Volume 671, Year 2018, Citations 10
• Hypokalaemic periodic paralysis due to the CACNA1S R1239H mutation in a large African family

  Neuromuscular Disorders, Volume 17, No. 5, Year 2007, Citations 10
• Autosomal dominant polycystic kidney disease (ADPKD) in Tunisia: From molecular genetics to the development of prognostic tools

  Gene, Volume 817, Article 146174, Year 2022, Citations 8
• Copy-number variation of the NPHP1 gene in patients with juvenile Nephronophthisis

  Acta Clinica Belgica: International Journal of Clinical and Laboratory Medicine, Volume 76, No. 1, Year 2021, Citations 8