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Your search keyword '"Shahzad, Mohsin"' showing total 21 results

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21 results on '"Shahzad, Mohsin"'

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7. Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma

12. A missense allele of PEX5 is responsible for the defective import of PTS2 cargo proteins into peroxisomes

13. Novel loss-of-function mutations in COCH cause autosomal recessive nonsyndromic hearing loss

15. Molecular genetics of MARVELD2 and clinical phenotype in Pakistani and Slovak families segregating DFNB49 hearing loss

17. A compound heterozygous mutation in DPAGT1 results in a congenital disorder of glycosylation with a relatively mild phenotype

19. Mutations of GIPC3 cause nonsyndromic hearing loss DFNB72 but not DFNB81 that also maps to chromosome 19p

21. DFNB79: reincarnation of a nonsyndromic deafness locus on chromosome 9q34.3

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