Salvatore Melchionda

Author

Istituti di Ricovero e Cura a Carattere Scientifico

Also Known As

S Melchionda, S. Melchionda, Salvatore Melchionda

Publications

3.5K

Citations

H-Index

Concepts

All Affiliations

Istituti di Ricovero e Cura a Carattere Scientifico Casa Sollievo della Sofferenza Nuovo Ospedale San Giovanni di Dio Telethon Institute Of Genetics And Medicine University of Padua

About

Salvatore Melchionda is an author at Istituti di Ricovero e Cura a Carattere Scientifico specializing in medicine, genetics, and hearing loss.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	16	20	1.8K
2	Arts	10	10	1.1K
3	Health Sciences	2	2	205
4	Natural Sciences	1	1	93
5	Public Health	1	1	10

Salvatore Melchionda

Publications

2.9K

Citations

H-Index

Page 1

	Year	Citations
Connexin-26 mutations in sporadic and inherited sensorineural deafness Xavier Estivill, Paolo Fortina, Saul Surrey, The Lancet	1998	642
High carrier frequency of the 35delG deafness mutation in European populations Paolo Gasparini, Raquel Rabionet, Guido Barbujani, European Journal of Human Genetics Mendelian DisorderGenetic DisorderGeneticsEvolutionary BiologyAudiology	2000	389
MYO6, the Human Homologue of the Gene Responsible for Deafness in Snell’s Waltzer Mice, Is Mutated in Autosomal Dominant Nonsyndromic Hearing Loss Salvatore Melchionda, Nadav Ahituv, Luigi Bisceglia, The American Journal of Human Genetics Is MutatedDevelopmental BiologyMendelian DisorderGenetic DisorderGenetics	2001	238
Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene Raquel Rabionet, Leopoldo Zelante, Núria López-Bigas, Human Genetics Developmental BiologyGenetic DisorderChildhood DeafnessGeneticsMolecular Basis	2000	219
Nonmuscle Myosin Heavy-Chain Gene MYH14 Is Expressed in Cochlea and Mutated in Patients Affected by Autosomal Dominant Hearing Impairment (DFNA4) Francesca Donaudy, Rik L. Snoeckx, Markus Pfister, The American Journal of Human Genetics Patients AffectedGenetic DisorderGeneticsAudiologyAuditory Physiology	2004	167
Mitochondrial DNA mutations in patients with postlingual, nonsyndromic hearing impairment Howard T. Jacobs, Timothy Hutchin, Timo Käppi, European Journal of Human Genetics Mendelian DisorderGenetic DisorderGeneticsAudiologyAuditory Physiology	2004	132
A functional study of plasma-membrane calcium-pump isoform 2 mutants causing digenic deafness Romina Ficarella, Francesca Di Leva, Mario Bortolozzi, Proceedings of the National Academy of Sciences GeneticsFunctional StudyCellular PhysiologyMendelian DisorderCa2+ Transients	2007	125
Multiple Mutations ofMYO1A, a Cochlear-Expressed Gene, in Sensorineural Hearing Loss Francesca Donaudy, Antonella Ferrara, Laura Esposito, The American Journal of Human Genetics Auditory ProcessingSystems BiologyHealth SciencesGenetic DisorderGenetics	2003	105
Localization of the Congenital Dyserythropoietic Anemia II Locus to Chromosome 20q11.2 by Genomewide Search Paolo Gasparini, Emanuele Miraglia del Giudice, J. Delaunay, The American Journal of Human Genetics CytogeneticsGenetic DisorderGeneticsHematologyPathology	1997	100
Hearing loss: frequency and functional studies of the most common connexin26 alleles Paola D’Andrea, Valentina Veronesi, Massimiliano Bicego, Biochemical and Biophysical Research Communications Functional StudiesAllergyMedicineGeneticsAudiology	2002	94

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