arginine and Abnormalities, Musculoskeletal

arginine has been researched along with Abnormalities, Musculoskeletal in 3 studies

Research

Studies (3)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's1 (33.33)29.6817
2010's0 (0.00)24.3611
2020's2 (66.67)2.80

Authors

AuthorsStudies
Kim, J; Manning, MA; Niehaus, AD1
Banka, S; Clayton-Smith, J; Jackson, A; Lovell, S; Robinson, H; Stewart, H1
Brown, CA; Lupski, JR; Potocki, L; Shen, JJ1

Reviews

1 review(s) available for arginine and Abnormalities, Musculoskeletal

ArticleYear
Phenotypic variability in RERE-related disorders and the first report of an inherited variant.
    American journal of medical genetics. Part A, 2022, Volume: 188, Issue:11

    Topics: Arginine; Autism Spectrum Disorder; Biological Variation, Population; Carrier Proteins; Dipeptides; Female; Glutamic Acid; Humans; Intellectual Disability; Musculoskeletal Abnormalities; Neurodevelopmental Disorders; Phenotype

2022

Other Studies

2 other study(ies) available for arginine and Abnormalities, Musculoskeletal

ArticleYear
Recurrent KCNT2 missense variants affecting p.Arg190 result in a recognizable phenotype.
    American journal of medical genetics. Part A, 2021, Volume: 185, Issue:10

    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.
    Journal of medical genetics, 2003, Volume: 40, Issue:11

    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