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Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 21, 2017
When genotype is not predictive of phenotype: implications for genetic counseling based on 21,594 chromosomal microarray analysis examinationsIdit Maya, Reuven Sharony, Shiri Yacobson, et al.European Journal of Human Genetics : EJHG|June 16, 2016
Spectrum of PEX1 and PEX6 variants in Heimler syndromeClaire E L Smith, James A Poulter, Alex V Levin, et al.Nature Genetics|October 22, 2002
Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndromeRuti Parvari, Eli Hershkovitz, Nili Grossman, et al.Clinical Genetics|October 28, 2020
Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness gene ATOH1Zippora Brownstein, Suleyman Gulsuner, Tom Walsh, et al.Pageof 5