asparagine and Congenital Limb Deformities

asparagine has been researched along with Congenital Limb Deformities 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's2 (66.67)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
de Koning, TJ1
Baldi, M; De Sanctis, V; Marsciani, A; Ravaioli, E; Reggiani, L; Sensi, A; Timoncini, G; Zucchini, A1
Chen, B; Gong, Y; Ke, X; Li, J; Liu, Q; Shao, C; Zhu, G1

Reviews

1 review(s) available for asparagine and Congenital Limb Deformities

ArticleYear
Amino acid synthesis deficiencies.
    Journal of inherited metabolic disease, 2017, Volume: 40, Issue:4

    Topics: Abnormalities, Multiple; Amino Acid Metabolism, Inborn Errors; Amino Acids; Animals; Asparagine; Brain Diseases; Central Nervous System; Fetal Growth Retardation; Glutamine; High-Throughput Nucleotide Sequencing; Humans; Ichthyosis; Limb Deformities, Congenital; Metabolic Diseases; Mice; Microcephaly; Proline; Serine

2017

Other Studies

2 other study(ies) available for asparagine and Congenital Limb Deformities

ArticleYear
ASN540SER mutation is associated with a mild form of hypochondroplasia: a 7 years follow-up in an Italian boy.
    Georgian medical news, 2012, Issue:210

    Topics: Adolescent; Amino Acid Substitution; Asparagine; Bone and Bones; Dwarfism; Follow-Up Studies; Humans; Italy; Limb Deformities, Congenital; Lordosis; Male; Mutation; Radiography; Receptor, Fibroblast Growth Factor, Type 3; Serine

2012
Recurrence of the D100N mutation in a Chinese family with brachydactyly type A1: evidence for a mutational hot spot in the Indian hedgehog gene.
    American journal of medical genetics. Part A, 2007, Jun-01, Volume: 143A, Issue:11

    Topics: Asian People; Asparagine; Aspartic Acid; Base Sequence; China; Female; Hedgehog Proteins; Humans; Limb Deformities, Congenital; Male; Molecular Sequence Data; Mutation; Pedigree; Radiography

2007