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Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness
NATURE GENETICS
Y-chromosomal STR haplotypes in pakistani populations
FORENSIC SCIENCE INTERNATIONAL
A new locus for autosomal recessive RP (RP29) mapping to chromosome 4q32-q34 in a Pakistani family
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
Locus for autosomal recessive nonsyndromic persistent hyperplastic primaryvitreous
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
Y-chromosome lineages trace diffusion of people and languages in southwestern Asia
AMERICAN JOURNAL OF HUMAN GENETICS
(p)53 mutations, polymorphisms, and haplotypes in Pakistani ethnic groups and breast cancer patients
GENETIC TESTING
Y chromosome sequence variation and the history of human populations
NATURE GENETICS
Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenitalamaurosis
NATURE GENETICS
A polymorphic L1 retroposon insertion in the centromere of the human Y chromosome
HUMAN MOLECULAR GENETICS
A novel locus for Leber congenital amaurosis (LCA4) with anterior keratoconus mapping to chromosome 17p13
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
RP1 protein truncating mutations predominate at the RP1 adRP locus
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
Novel locus for autosomal recessive cone-rod dystrophy CORDS mapping to chromosome 1q12-q24
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
Refined genetic mapping of the autosomal recessive non-syndromic deafness locus DFNB8 on human chromosome 21q22.3
GENETICS IN OTORHINOLARYNGOLOGY
Importance of the autosomal recessive retinitis pigmentosa locus on 1q31-q32.1 (RP 12) and mutation analysis of the candidate gene RGS16 (RGS-r)
JOURNAL OF MEDICAL GENETICS
Patterns of male-specific inter-population divergence in Europe, West Asiaand North Africa
ANNALS OF HUMAN GENETICS
Connexin 50 mutation in a family with congenital "zonular nuclear" pulverulent cataract of Pakistani origin
HUMAN GENETICS
HLA polymorphisms in ethnic groups from Pakistan
TRANSPLANTATION PROCEEDINGS
African and Levantine origins of Pakistani YAP(+) Y chromosomes
HUMAN BIOLOGY
Phenotype of autosomal recessive congenital microphthalmia mapping to chromosome 14q32
BRITISH JOURNAL OF OPHTHALMOLOGY
Refinement of the locus for autosomal recessive retinitis pigmentosa (RP25) linked to chromosome 6q in a family of Pakistani origin
AMERICAN JOURNAL OF HUMAN GENETICS
NETWORK ANALYSES OF Y-CHROMOSOMAL TYPES IN EUROPE, NORTHERN AFRICA, AND WESTERN ASIA REVEAL SPECIFIC PATTERNS OF GEOGRAPHIC-DISTRIBUTION
American journal of human genetics
A LOCUS FOR AUTOSOMAL RECESSIVE CONGENITAL MICROPHTHALMIA MAPS TO CHROMOSOME 14Q32
American journal of human genetics
DETECTION OF NUMEROUS Y-CHROMOSOME BIALLELIC POLYMORPHISMS BY DENATURING HIGH-PERFORMANCE LIQUID-CHROMATOGRAPHY
PCR methods and applications
DIFFERENTIAL STRUCTURING OF HUMAN-POPULATIONS FOR HOMOLOGOUS-X AND HOMOLOGOUS-Y MICROSATELLITE LOCI
American journal of human genetics
AUTOSOMAL RECESSIVE NON-SYNDROMIC DEAFNESS LOCUS (DFNB8) MAPS ON CHROMOSOME 21Q22 IN A LARGE CONSANGUINEOUS KINDRED FROM PAKISTAN
Human molecular genetics
AUTOSOMAL RECESSIVE RETINITIS-PIGMENTOSA LOCUS MAPS ON CHROMOSOME 1Q IN A LARGE CONSANGUINEOUS FAMILY FROM PAKISTAN
Clinical genetics
AN RFLP MAP FOR 2Q33-Q37 FROM MULTICASE MYCOBACTERIAL AND LEISHMANIALDISEASE FAMILIES - NO EVIDENCE FOR AN LSH ITY/BCG GENE HOMOLOG INFLUENCING SUSCEPTIBILITY TO LEPROSY/
Annals of Human Genetics