Polak, Michel

Top Publications

Top Publications Authored or Co-Authored by "Polak, Michel"

• Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13

  Nature Genetics, Volume 28, No. 4, Year 2001, Citations 694
• Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy

  Journal of Medical Genetics, Volume 39, No. 10, Year 2002, Citations 257
• Mutations in the TGFβb binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias

  American Journal of Human Genetics, Volume 89, No. 1, Year 2011, Citations 204
• Phenotypical, biological, and molecular heterogeneity of 5α-reductase deficiency: An extensive international experience of 55 patients

  Journal of Clinical Endocrinology and Metabolism, Volume 96, No. 2, Year 2011, Citations 176
• Clinical lessons learned in constitutional hypopituitarism from two decades of experience in a large international cohort

  Clinical Endocrinology, Volume 94, No. 2, Year 2021, Citations 100