Publisher
Springer Science and Business Media LLC
Subject
Surgery,Pediatrics, Perinatology, and Child Health
Reference16 articles.
1. Bamshad MJ, Ng SB, Bigham AW et al (2011) Exome sequencing as a tool for Mendelian disease gene discovery. Nat Rev Genet 12:745–755
2. Gonçalves VF (2019) Mitochondrial Genetics. Adv Exp Med Biol 1158:247–255
3. Kehrer-Sawatzki H, Mautner VF, Cooper DN (2017) Emerging genotype-phenotype relationships in patients with large NF1 deletions. Hum Genet 136:349–376
4. Koczkowska M, Callens T, Chen Y et al (2019) Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1. Hum Mutat. https://doi.org/10.1002/humu.23929 (Epub ahead of print)
5. Landowska A, Rzonca S, Bal J, Gos M (2018) Fragile X syndrome and FMR1-dependent diseases-clinical presentation, epidemiology and molecular background. Dev Period Med 22:14–21
Cited by
4 articles.
订阅此论文施引文献
订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献