van Regemorter, Nicole V.

Top Publications

Top Publications Authored or Co-Authored by "van Regemorter, Nicole V."

• A human homologue of the Drosophila eyes absent gene underlies branchio- oto-renal (BOR) syndrome and identifies a novel gene family

  Nature Genetics, Volume 15, No. 2, Year 1997, Citations 643
• The gene for autosomal dominant cerebellar ataxia with pigmentary macular dystrophy maps to chromosome 3p12–p21.1

  Nature Genetics, Volume 10, No. 1, Year 1995, Citations 155
• Mutation Update of the CLCN5 Gene Responsible for Dent Disease 1

  Human Mutation, Volume 36, No. 8, Year 2015, Citations 68
• Refinement of the locus for autosomal dominant cerebellar ataxia type II to chromosome 3p21.1-14.1

  Human Genetics, Volume 99, No. 2, Year 1997, Citations 21
• Major alpha-thalassemia: Antenatal diagnosis, case report and literature review

  Journal de Gynecologie Obstetrique et Biologie de la Reproduction, Volume 38, No. 3, Year 2009, Citations 6