Work

Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome

Year: 2001

Type: article

Study design: Observational Study

Source: Human Genetics

DOI: 10.1007/s004390100604

Authors: Nikki Liburd, Manju Ghosh, Saima Riazuddin, Sadaf Naz, Shaheen Khan, Zubair Ahmed, Sheikh Riazuddin, Yong Liang, Puthezhath Menon, Tenesha Smith, Ann Smith, Ken-Shiung Chen, James Lupski, Edward Wilcox, Lorraine Potocki, Thomas Friedman

Institutions: National Institutes of Health, National Institute on Deafness and Other Communication Disorders, Centre of Excellence in Molecular Biology, All India Institute of Medical Sciences, National Human Genome Research Institute, Baylor College of Medicine

Language: English

Topic: Hearing, Cochlea, Tinnitus, Genetics

Subfield: Sensory Systems

Field: Neuroscience

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: green

Funders: National Institutes of Health, National Cancer Institute, National Institute on Deafness and Other Communication Disorders, National Center for Research Resources, Eunice Kennedy Shriver National Institute of Child Health and Human Development

Awards: G1523963273, G2493851442, G2809595494, G2873797171, GENETIC ANALYSIS OF MOUSE CHROMOSOME 11, MOLECULAR &CLINICAL ANALYSIS OF SMITH-MAGENIS SYNDROME, Mapping And Cloning Hereditary Hearing Impairment Genes, General Clinical Research Center, G71706220, Identification of Genes Causing Syndromic And Nonsyndromic Hearing Impairment, G8477080677

OpenAlex ID: W2052996255

FWCI: 1.574

Cites: 28

Cited by: 137

Related to: 10