Nathalie Le Dû

Publications by Year

Research Areas

Chromosomal and Genetic Variations, Genomic variations and chromosomal abnormalities, Genomics and Chromatin Dynamics, Developmental Biology and Gene Regulation, Hearing, Cochlea, Tinnitus, Genetics

Most-Cited Works

• → Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome(2003)827 cited
• → New Mutations of CIAS1 That Are Responsible for Muckle-Wells Syndrome and Familial Cold Urticaria: A Novel Mutation Underlies Both Syndromes(2002)305 cited
• → Clinical and molecular delineation of Tetrasomy 9p syndrome: Report of 12 new cases and literature review(2015)29 cited
• → Partial trisomy of chromosome 22 resulting from a supernumerary marker chromosome 22 in a child with features of cat eye syndrome(2008)17 cited
• → COL2A1 gene disruption by a balanced translocation t(12;15)(q13;q22.2) in familial stickler syndrome(2013)6 cited