Leopoldo Zelante
Casa Sollievo della Sofferenza(IT)Istituti di Ricovero e Cura a Carattere Scientifico(IT)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Hearing, Cochlea, Tinnitus, Genetics, Amino Acid Enzymes and Metabolism, Folate and B Vitamins Research, Genomics and Rare Diseases
Most-Cited Works
- → The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome(2001)974 cited
- → Connexin-26 mutations in sporadic and inherited sensorineural deafness(1998)642 cited
- → Connexin26 mutations associated with the most common form of non- syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans(1997)624 cited
- → Mutations of SURF-1 in Leigh Disease Associated with Cytochrome c Oxidase Deficiency(1998)526 cited
- → Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus(1999)397 cited
- → Cystinuria caused by mutations in rBAT, a gene involved in the transport of cystine(1994)379 cited