MacHer, Marie Alice

Top Publications

Top Publications Authored or Co-Authored by "MacHer, Marie Alice"

• Genotype-phenotype correlation in primary hyperoxaluria type 1: The p.Gly170Arg AGXT mutation is associated with a better outcome

  Kidney International, Volume 77, No. 5, Year 2010, Citations 122
• Long-Term Outcome of Prenatally Detected Posterior Urethral Valves: Single Center Study of 65 Cases Managed by Primary Valve Ablation

  Journal of Urology, Volume 179, No. 1, Year 2008, Citations 77
• Mutational analysis of the PLCE1 gene in steroid resistant nephrotic syndrome

  Journal of Medical Genetics, Volume 47, No. 7, Year 2010, Citations 76
• Mutation Update of the CLCN5 Gene Responsible for Dent Disease 1

  Human Mutation, Volume 36, No. 8, Year 2015, Citations 68
• The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies

  Kidney International, Volume 104, No. 2, Year 2023, Citations 3