All Stories

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