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Gaucher disease: four families with previously undescribed mutations.
Beutler E, Gelbart T, Balicki D, Demina A, Adusumalli J, Elsas L 2nd, Grinzaid KA, Gitzelmann R, Superti-Furga A, Kattamis C, Liou BB. Beutler E, et al. Among authors: grinzaid ka. Proc Assoc Am Physicians. 1996 May;108(3):179-84. Proc Assoc Am Physicians. 1996. PMID: 8774051
Screening for Tay-Sachs disease carriers by full-exon sequencing with novel variant interpretation outperforms enzyme testing in a pan-ethnic cohort.
Cecchi AC, Vengoechea ES, Kaseniit KE, Hardy MW, Kiger LA, Mehta N, Haque IS, Moyer K, Page PZ, Muzzey D, Grinzaid KA. Cecchi AC, et al. Among authors: grinzaid ka. Mol Genet Genomic Med. 2019 Aug;7(8):e836. doi: 10.1002/mgg3.836. Epub 2019 Jul 10. Mol Genet Genomic Med. 2019. PMID: 31293106 Free PMC article.
13 results