phenylalanine has been researched along with Genetic Diseases, X-Chromosome Linked in 4 studies
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 0 (0.00) | 18.2507 |
| 2000's | 2 (50.00) | 29.6817 |
| 2010's | 2 (50.00) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Hyun, HK; Kim, JW; Ko, J; Lee, KE; Lee, SH; Shin, TJ | 1 |
| Álvarez de la Campa, E; Colobran, R; de la Cruz, X; Martín-Nalda, A; Martínez-Gallo, M; Pujol-Borrell, R; Soler-Palacín, P | 1 |
| Gu, F; He, X; Huang, S; Ma, X; Wang, Y; Yan, J; Zhang, M | 1 |
| Aldahmesh, MA; Khan, AO; Meyer, B | 1 |
4 other study(ies) available for phenylalanine and Genetic Diseases, X-Chromosome Linked
| Article | Year |
|---|---|
Oligodontia and curly hair occur with ectodysplasin-a mutations.
Topics: Anodontia; Arginine; Child; Child, Preschool; Codon; Conserved Sequence; Ectodysplasins; Exome; Gene Frequency; Genetic Diseases, X-Linked; Genetic Variation; Guanine; Hair; Humans; Leucine; Male; Mutation, Missense; Pedigree; Phenylalanine; Signal Transduction; Thymine; Valine | 2014 |
Clinical and structural impact of mutations affecting the residue Phe367 of FOXP3 in patients with IPEX syndrome.
Topics: Diabetes Mellitus, Type 1; Diarrhea; Dimerization; Eczema; Eosinophilia; Fatal Outcome; Forkhead Transcription Factors; Genetic Diseases, X-Linked; Growth Disorders; Hemorrhage; Hepatomegaly; Humans; Hydrophobic and Hydrophilic Interactions; Immune System Diseases; Immunoglobulin E; Infant; Klebsiella Infections; Leukocytosis; Lung Diseases; Male; Meningoencephalitis; Models, Molecular; Mutation; Phenylalanine; Sepsis; Splenomegaly; Thrombocytopenia; Thymus Gland | 2016 |
A novel mutation in FRMD7 causing X-linked idiopathic congenital nystagmus in a large family.
Topics: Adult; Alleles; Amino Acid Substitution; Asian People; Base Sequence; Child; Chromosomes, Human, X; Cysteine; Cytoskeletal Proteins; DNA Mutational Analysis; Female; Genetic Diseases, X-Linked; Guanine; Humans; Male; Membrane Proteins; Mutation; Nystagmus, Congenital; Pedigree; Phenylalanine; Thymine | 2008 |
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 |