Université Saint-joseph

Top Publications

Top Publications Authored or Co-Authored in "Université Saint-joseph"

• Mapping of a new locus for autosomal recessive demyelinating Charcot- Marie-Tooth disease to 19q13.1-13.3 in a large consanguineous Lebanese family: Exclusion of MAG as a candidate gene

  American Journal of Human Genetics, Volume 67, No. 1, Year 2000, Citations 91
• Familial Mediterranean fever (FMF) in Lebanon and Jordan: A population genetics study and report of three novel mutations

  European Journal of Medical Genetics, Volume 48, No. 4, Year 2005, Citations 57
• Brown-Vialetto-Van Laere syndrome in a large inbred Lebanese family: Confirmation of autosomal recessive inheritance?

  American Journal of Medical Genetics, Volume 92, No. 2, Year 2000, Citations 54
• Prevalance of BRCA1 and BRCA2 mutations in familial breast cancer patients in Lebanon

  Hereditary Cancer in Clinical Practice, Volume 10, No. 1, Article 7, Year 2012, Citations 49
• A novel locus for autosomal recessive primary torsion dystonia (DYT17) maps to 20p11.22-q13.12

  Neurogenetics, Volume 9, No. 4, Year 2008, Citations 46