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A homozygous PMS2 founder mutation with an attenuated constitutional mismatch repair deficiency phenotype.
Li L, Hamel N, Baker K, McGuffin MJ, Couillard M, Gologan A, Marcus VA, Chodirker B, Chudley A, Stefanovici C, Durandy A, Hegele RA, Feng BJ, Goldgar DE, Zhu J, De Rosa M, Gruber SB, Wimmer K, Young B, Chong G, Tischkowitz MD, Foulkes WD. Li L, et al. Among authors: chodirker b. J Med Genet. 2015 May;52(5):348-52. doi: 10.1136/jmedgenet-2014-102934. Epub 2015 Feb 17. J Med Genet. 2015. PMID: 25691505
A not-so-"new" mental retardation syndrome.
Chodirker BN, Marles SL, Chudley AE. Chodirker BN, et al. Am J Med Genet. 2002 Jul 22;111(1):106; author reply 107-8. doi: 10.1002/ajmg.10503. Am J Med Genet. 2002. PMID: 12124746 No abstract available.
Routine genetic testing for Asperger syndrome.
Chodirker BN, Chudley AE. Chodirker BN, et al. Genet Med. 2008 Nov;10(11):843-5; author reply 845. doi: 10.1097/GIM.0b013e31818b0c76. Genet Med. 2008. PMID: 18941416 Free article. No abstract available.
101 results