15 results on '"Riazuddin, Saima"'
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2. Novel loss-of-function mutations in COCH cause autosomal recessive nonsyndromic hearing loss
3. Mutation of ATF6 causes autosomal recessive achromatopsia
4. Molecular genetics of MARVELD2 and clinical phenotype in Pakistani and Slovak families segregating DFNB49 hearing loss
5. Mutations of GIPC3 cause nonsyndromic hearing loss DFNB72 but not DFNB81 that also maps to chromosome 19p
6. Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome
7. The autosomal recessive nonsyndromic deafness locus DFNB72 is located on chromosome 19p13.3
8. Autosomal recessive nonsyndromic deafness locus DFNB63 at chromosome 11q13.2–q13.3
9. DFNB48, a new nonsyndromic recessive deafness locus, maps to chromosome 15q23-q25.1
10. A new locus for nonsyndromic deafness DFNB49 maps to chromosome 5q12.3-q14.1
11. Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC
12. Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome
13. Autosomal recessive nonsyndromic deafness locus DFNB63 at chromosome 11q13.2–q13.3
14. A new locus for nonsyndromic deafness DFNB49 maps to chromosome 5q12.3-q14.1
15. A new locus for nonsyndromic deafnessDFNB49maps to chromosome 5q12.3-q14.1.
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