phenylalanine has been researched along with Cochlear Hearing Loss in 3 studies
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 0 (0.00) | 18.2507 |
| 2000's | 2 (66.67) | 29.6817 |
| 2010's | 1 (33.33) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| de Zwart-Storm, EA; Martin, PE; Steijlen, PM; van Geel, M; van Neer, PA; van Steensel, MA | 1 |
| Hosoki, K; Saitoh, S; Sudo, A; Takeichi, N | 1 |
| Aldahmesh, MA; Khan, AO; Meyer, B | 1 |
3 other study(ies) available for phenylalanine and Cochlear Hearing Loss
| Article | Year |
|---|---|
A novel missense mutation in the second extracellular domain of GJB2, p.Ser183Phe, causes a syndrome of focal palmoplantar keratoderma with deafness.
Topics: Adult; Amino Acid Sequence; Amino Acid Substitution; Base Sequence; Child, Preschool; Connexin 26; Connexins; Conserved Sequence; Deafness; DNA Mutational Analysis; Female; Hearing Loss, Sensorineural; HeLa Cells; Humans; Keratoderma, Palmoplantar; Male; Molecular Sequence Data; Mutation, Missense; Pedigree; Phenotype; Phenylalanine; Protein Structure, Tertiary; Recombinant Fusion Proteins; Serine; Syndrome | 2008 |
Successful cochlear implantation in a patient with mitochondrial hearing loss and m.625G>A transition.
Topics: Audiometry, Pure-Tone; Brain; Child; Cochlear Implantation; Electron Transport Complex III; Epilepsy, Generalized; Female; Genome, Mitochondrial; Growth Disorders; Hearing Loss, Sensorineural; Humans; Hypertrichosis; Lactates; Magnetic Resonance Imaging; Mitochondria; Mitochondrial Diseases; Phenylalanine; Point Mutation; RNA, Transfer; Treatment Outcome | 2011 |
Correlation of ophthalmic examination with carrier status in females potentially harboring a severe Norrie disease gene mutation.
Topics: Cysteine; Diagnostic Techniques, Ophthalmological; Eye Proteins; Female; Genes, Recessive; Genetic Diseases, X-Linked; Hearing Loss, Sensorineural; Heterozygote; Humans; Intellectual Disability; Male; Molecular Biology; Mutation; Nerve Tissue Proteins; Pedigree; Phenylalanine; Prospective Studies; Retinal Diseases; Severity of Illness Index; Vitreoretinopathy, Proliferative | 2008 |