arginine has been researched along with Abnormalities, Musculoskeletal 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 | 1 (33.33) | 29.6817 |
2010's | 0 (0.00) | 24.3611 |
2020's | 2 (66.67) | 2.80 |
Authors | Studies |
---|---|
Kim, J; Manning, MA; Niehaus, AD | 1 |
Banka, S; Clayton-Smith, J; Jackson, A; Lovell, S; Robinson, H; Stewart, H | 1 |
Brown, CA; Lupski, JR; Potocki, L; Shen, JJ | 1 |
1 review(s) available for arginine and Abnormalities, Musculoskeletal
Article | Year |
---|---|
Phenotypic variability in RERE-related disorders and the first report of an inherited variant.
Topics: Arginine; Autism Spectrum Disorder; Biological Variation, Population; Carrier Proteins; Dipeptides; Female; Glutamic Acid; Humans; Intellectual Disability; Musculoskeletal Abnormalities; Neurodevelopmental Disorders; Phenotype | 2022 |
2 other study(ies) available for arginine and Abnormalities, Musculoskeletal
Article | Year |
---|---|
Recurrent KCNT2 missense variants affecting p.Arg190 result in a recognizable phenotype.
Topics: Adolescent; Arginine; Child; Child, Preschool; Epilepsy; Female; Genetic Predisposition to Disease; Humans; Hypertrichosis; Intellectual Disability; Megalencephaly; Musculoskeletal Abnormalities; Mutation, Missense; Phenotype; Potassium Channels, Sodium-Activated | 2021 |
Mandibuloacral dysplasia caused by homozygosity for the R527H mutation in lamin A/C.
Topics: Abnormalities, Multiple; Adolescent; Amino Acid Substitution; Arginine; Craniofacial Abnormalities; Genes, Recessive; Genotype; Histidine; Homozygote; Humans; Lamin Type A; Lipodystrophy; Male; Musculoskeletal Abnormalities; Mutation; Phenotype | 2003 |