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Category: International Ophthalmology |
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Association of Single Nucleotide Polymorphisms in XRCC1 (194) and XPD (751) with Age-related cataract.
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Category: Pakistan and Medical Association |
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Association of single nucleotide polymorphism in CD28(C/T-I3 + 17) and CD40 (C/T-1) genes with the Graves' disease
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Category: Pure and Applied Biology |
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Subterranean termites diversity in Mianwali District of Punjab, Pakistan
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Category: Heredity |
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A missense point mutation in COL10A1 identified with whole-genome deep sequencing in a 7-generation Pakistan dwarf family.
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Category: European Journal of Medical Genetics |
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A novel homozygous missense variant in MATN3 causes Spondylo-epimetaphyseal dysplasia Matrilin 3 type in a consanguineous family.
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Category: Genes & Genomics |
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A novel missense mutation in NRP2 gene causing Acromesomelic dysplasia, type Maroteaux in a consanguineous family in Southern Punjab (Pakistan)
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Category: Pakistan Journal of Zoology |
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A novel 429delC deletion in HR is causing Alopecia in two families from Southern Punjab (Pakistan).
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Category: Pakistan Journal of Zoology |
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A missense mutation in COL10A1 gene causing Metaphyseal chondrodysplasia, Schmid.
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Category: Genes |
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A Missense Mutation (c.1037 G > C, p. R346P) in PAPSS2 Gene Results in Autosomal Recessive form of Brachyolmia Type 1 (Hobaek Form) in A Consanguineous Family.
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Category: Meta genes |
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Novel missense variants in FGFR1 and FGFR3 causes short stature in enrolled families from Pakistan
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