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LHFPL5 mutation: A rare cause of non-syndromic autosomal recessive hearing loss
Institution:1. Section of Ophthalmology & Neuroscience, Leeds Institute of Medical Research at St. James''s, University of Leeds, United Kingdom;2. School of Biomedical Sciences, University of Leeds, United Kingdom;3. National Genetic Centre, Directorate General of Royal Hospital, Ministry of Health, Muscat, Oman;4. Genetic & Developmental Medicine Clinic, Genetics Department, Sultan Qaboos University Hospital, Muscat, Oman;5. Developmental Pediatric Unit, Child Health Department, Sultan Qaboos University Hospital, Muscat, Oman;6. Department of Zoology, Faculty of Science, Benha University, Benha, Egypt;7. Biochemistry Department, Sultan Qaboos University Hospital, Muscat, Oman;8. Department of Ear, Nose & Throat, Al Nahdha Hospital, Ministry of Health, Muscat, Oman;1. Departments of Otolaryngology and Neurology, Boston Children’s Hospital and Harvard Medical School, Boston, MA 02115, USA;2. Department of Neurobiology and Howard Hughes Medical Institute, Harvard Medical School, Boston, MA 02115, USA;3. Molecular Biology and Genetics Section, National Institute on Deafness and Other Communication Disorders, NIH, Bethesda, MD 20892, USA;4. Department of Chemistry and Biochemistry, The Ohio State University, Columbus, OH 43210, USA;1. Howard Hughes Medical Institute and Laboratory of Sensory Neuroscience, The Rockefeller University, New York, NY, USA;1. Department of Statistics, University of California, Davis, United States;2. Federal Reserve Bank of San Francisco, United States;3. Department of Economics, University of California, Davis, United States;4. International Institute for Human-Animal Networks, Department of Population Health & Reproduction, School of Veterinary Medicine, California National Primate Research Center, University of California, Davis, United States
Abstract:
Keywords:Deafness  Homozygosity mapping  Exome sequencing  LHFPL5  DNA"}  {"#name":"keyword"  "$":{"id":"kwrd0035"}  "$$":[{"#name":"text"  "_":"deoxyribonucleic acid  IQ"}  {"#name":"keyword"  "$":{"id":"kwrd0045"}  "$$":[{"#name":"text"  "_":"intelligent quotient  LHFPL5"}  {"#name":"keyword"  "$":{"id":"kwrd0055"}  "$$":[{"#name":"text"  "_":"lipoma HMGIC fusion partner-like 5 gene  MRI"}  {"#name":"keyword"  "$":{"id":"kwrd0065"}  "$$":[{"#name":"text"  "_":"magnetic resonance imaging  NHS"}  {"#name":"keyword"  "$":{"id":"kwrd0075"}  "$$":[{"#name":"text"  "_":"Nance-Horan Syndrome actin remodeling regulator  SNP"}  {"#name":"keyword"  "$":{"id":"kwrd0085"}  "$$":[{"#name":"text"  "_":"single nucleotide polymorphism
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