Amanote Research
Register
Sign In
Discover open access scientific publications
Search, annotate, share and cite publications
Publications by Dhara Kinariwala
A Patient WithDNMT1Gene Mutation Presenting With Polyneuropathy, Hearing Loss, and Personality Changes
JAMA Otolaryngology - Head and Neck Surgery
Medicine
Otorhinolaryngology
Surgery
Related publications
Fabry Disease Presenting With Sudden Hearing Loss and Otosclerosis: A Case Report
Journal of Medical Case Reports
Medicine
Sensorineural Hearing Loss Associated With Mitochondrial DNA Mutation
AUDIOLOGY JAPAN
Anasarca in a Patient With Polyneuropathy
American Journal of Kidney Diseases
Nephrology
Hearing Loss Caused by a P2RX2 Mutation Identified in a MELAS Family With a Coexisting Mitochondrial 3243AG Mutation
Annals of Otology, Rhinology and Laryngology
Medicine
Otorhinolaryngology
Polyneuropathy in a Young Belgian Patient: A Novel Heterozygous Mutation in theWNK1/HSN2gene
Neurology: Genetics
Neurology
Genetics
Hearing Loss in a Patient With the Myopathic Form of Mitochondrial DNA Depletion Syndrome and a Novel Mutation in the TK2 Gene
Pediatric Research
Child Health
Pediatrics
Perinatology
A C-Terminal Nonsense Mutation Links PTPRQ With Autosomal-Dominant Hearing Loss, DFNA73
Genetics in Medicine
Medicine
Genetics
Mild Cone‐rod Dystrophy and Sensorineural Hearing Loss With CEP250 Mutation in a Japanese Family
Acta Ophthalmologica
Medicine
Ophthalmology
A Serine Synthesis Defect Presenting With a Charcot-Marie-Tooth–Like Polyneuropathy
Archives of Neurology