All Stories

  1. First record of Stylotermitidae (Insecta: Blattodea) from Pakistan: distribution, habitat preference, and molecular characterization
  2. Early-Onset Retinopathy in Patients With Variants in SLC6A6 Leading to Impaired Taurine Transport
  3. Epidemiological trends of tuberculosis in Abbottabad and Mansehra, northern Pakistan: a retrospective study (2015–2022)
  4. A novel homozygous DST variant causes hereditary sensory and autonomic neuropathy in a Pakistani family
  5. Epidemiological patterns of cutaneous leishmaniasis in north-west Pakistan (2022–2023)
  6. Whole exome sequencing reveals pathogenic variants in CNGA3, CACNA1F, and RPGRIP1 in consanguineous Pakistani families with diverse retinal phenotypes
  7. A comprehensive genetic landscape of inherited retinal diseases in a large Pakistani cohort
  8. Exome sequencing identifies a homozygous splice site variant in RP1 as the underlying cause of autosomal recessive retinitis pigmentosa in a Pakistani family
  9. Evolutionary Study of the Respiratory Syncytial Virus Type A
  10. BRCA1 Exon 11 Mutations in Breast Cancer: A Study From Pakistan
  11. A novel homozygous missense variant in POC1B causes cone dystrophy in a consanguineous Pakistani family
  12. Substitution of a single non-coding nucleotide upstream of TMEM216 causes non-syndromic retinitis pigmentosa and is associated with reduced TMEM216 expression
  13. Epidemiology of tuberculosis in two northern Pakistani populations
  14. Consanguinity in northwest Pakistan: evidence of temporal decline
  15. A systematic review of inherited retinal dystrophies in Pakistan: updates from 1999 to April 2023
  16. A novel intronic deletion in PDE6B causes autosomal recessive retinitis pigmentosa by interfering with RNA splicing
  17. A novel homozygous missense substitution p.Thr313Ile in the PDE6B gene underlies autosomal recessive retinitis pigmentosa in a consanguineous Pakistani family
  18. Population distribution and habitat analysis of Rufous treepie (Dendrocitta vagabunda) in Abbottabad, Pakistan
  19. Diversity and Epidemiological Study of Hard Ticks Infesting Goats and Sheep of Hazara Division, Khyber Pakhtunkhwa, Pakistan
  20. A novel homozygous missense substitution p.Thr313Ile in the PDE6B gene underlies autosomal recessive retinitis pigmentosa in a consanguineous Pakistani family
  21. A novel homozygous missense variant p.D339N in the PKLR gene correlates with pyruvate kinase deficiency in a Pakistani family: a case report
  22. Single Cell RNA Sequencing (scRNA-Seq) as an Emerging Technology in Cancer Research
  23. Whole exome sequencing in 17 consanguineous Iranian pedigrees expands the mutational spectrum of inherited retinal dystrophies
  24. Frequencies of ABO and Rh (D) Blood Group Phenotypes in Pashtuns of North‐Western Pakistan: A population undergoing huge demographic changes
  25. MOLECULAR AND BIOCHEMICAL CHARACTERIZATION OF ECHINOCOCCUS SPP. IN HYDATID CYST FLUID COLLECTED FROM HUMAN AND LIVESTOCK IN NORTHERN KHYBER PAKHTUNKHWA AND GILGIT BALTISTAN
  26. New variants and in silico analyses in GRK1 associated Oguchi disease
  27. Management of Full-Thickness Macular Hole in A Genetically Confirmed Case with Usher Syndrome
  28. Whole-exome sequencing in a consanguineous Pakistani family identifies a mutational hotspot in the COL7A1 gene, causing recessive dystrophic epidermolysis bullosa
  29. Exploring the Genetic Landscape of Retinal Diseases in North-Western Pakistan Reveals a High Degree of Autozygosity and a Prevalent Founder Mutation in ABCA4
  30. A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy
  31. Genetic variation among the major Pakistani populations based on 15 autosomal STR markers
  32. Effects of Sub-Lethal Concentration of Cypermethrin on Histopathological and Hematological Profile of Rohu (Labeo rohita) during Acute Toxicity
  33. Isolation, identification, and pathological effects of beach sand bacterial extract on human skin keratinocytes in vitro
  34. Determinants of consanguinity and inbreeding coefficient in the multiethnic population of Mardan, Khyber Pakhtunkhwa, Pakistan
  35. Mitochondrial genome sequence and gene organization of Kunar Snow trout (Schizothorax labiatus) with phylogenetic consideration
  36. Analysis of Genetic Differentiation at ABO and Rh Loci among the Pashtun Populations Inhabiting Lower Khyber Pakhtunkhwa, Pakistan
  37. Distribution ofABOandRh(D)Allelic Polymorphisms North Waziristan Agency, (Federally Administered Tribal Areas), Pakistan
  38. Efficient use of artificial micro-RNA to downregulate the expression of genes at the post-transcriptional level in Arabidopsis thaliana
  39. TRANSITION IN CONSANGUINITY IN DIR LOWER DISTRICT, A VICTIM OF WAR, NATURAL DISASTER AND POPULATION DISPLACEMENT, IN NORTH-WEST PAKISTAN – A RESPONSE TO STHANADAR ET AL. (2015)
  40. Genetic Diversity at ABO and Rh (D) Loci in the Tribal Groups of Mohmand Agency (Federally Administered Tribal Areas), Pakistan
  41. CONSANGUINITY AND INBREEDING COEFFICIENT IN TRIBAL PASHTUNS INHABITING THE TURBULENT AND WAR-AFFECTED TERRITORY OF BAJAUR AGENCY, NORTH-WEST PAKISTAN
  42. ABO and Rh (D) Blood Groups Polymorphism in Four Tehsils of Bajaur Agency (Federally Administered Tribal Areas), Pakistan
  43. Prevalence of Goiter and Iodine Status in 6-12 Years School Children and Pregnant Women of District Charsada, Pakistan