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Biallelic Variants in EPHA2 Identified in Three Large Inbred Families with Early-Onset Cataract

International journal of molecular sciences, 2021-09, Vol.22 (19), p.10655

2021

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Association of single nucleotide polymorphism variations in CRYAA and CRYAB genes with congenital cataract in Pakistani population

Saudi journal of biological sciences, 2022-04, Vol.29 (4), p.2727-2732

2022

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MTHFR and F5 genetic variations have association with preeclampsia in Pakistani patients: a case control study

BMC medical genetics, 2019-10, Vol.20 (1), p.163-12, Article 163

2019

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Association of N and E Genes with ORF1b Gene for Early Detection of COVID-19 in Pakistani Patients

Journal of the Liaquat University of Medical and Health Sciences : JLUMHS, 2023-07, Vol.22 (3), p.197-200

2023

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Impact of ACE2 gene variations on COVID-19 pathogenicity in Pakistani patients

Saudi journal of biological sciences, 2023-10, Vol.30 (10), p.103813-103813, Article 103813

2023

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Delineating the Spectrum of Genetic Variants Associated with Bardet-Biedl Syndrome in Consanguineous Pakistani Pedigrees

Genes, 2023-02, Vol.14 (2), p.404

2023

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Outcomes of Total Dose Infusion Therapy in Pregnant Women with Iron Deficiency Anemia

Journal of the Liaquat University of Medical and Health Sciences : JLUMHS, 2021-01, Vol.20 (1), p.7-11

2021

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Two novel variants in CYP1B1 gene: a major contributor of autosomal recessive primary congenital glaucoma with allelic heterogeneity in Pakistani patients

International journal of ophthalmology, 2019-01

2019

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Serum and salivary Cu/Zn ratio as a diagnostic biomarker for oral submucosal fibrosis: an analysis of trace metals and LOX gene variants

Biometals, 2024-04, Vol.37 (2), p.447-459

2024

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Association of MSX1 Gene Variants with Nonsyndromic Cleft Lip and/or Palate in the Pakistani Population

The Cleft palate-craniofacial journal, 2023-07, p.10556656231185218-10556656231185218

2023

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Mutation Screening of the Cyp1b1 Gene Reveals Novel and Recurrent Pathogenic Variants in Pakistani Primary Congenital Glaucoma Patients

Journal of the Liaquat University of Medical and Health Sciences : JLUMHS, 2024-06, Vol.23 (2), p.140-145

2024

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P.arg102ser is a common Pde6[alpha] mutation causing autosomal recessive retinitis pigmentosa in Pakistani families

Journal of the Pakistan Medical Association, 2021-03, Vol.71 (3), p.816

2021

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P.arg102ser is a common Pde6? mutation causing autosomal recessive retinitis pigmentosa in Pakistani families

Journal of the Pakistan Medical Association, 2020-11, Vol.71 (3), p.1-15

2020

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Vascular endothelial growth factor/platelet ratio as a potential biomarker for preeclampsia: A study of angiogenic markers in Pakistani patients

Obstetric medicine, 2024-03

2024

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P.arg102ser is a common Pde6a mutation causing autosomal recessive retinitis pigmentosa in Pakistani families

Journal of the Pakistan Medical Association, 2021-03, Vol.71 (3), p.816-821

2021

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Prevalence of Factor V Leiden Mutation in Healthy Females of Sindh, Pakistan and Comparison of Three Detection Methods in Resource-Limited Settings: Prevalence of Factor V Leiden Mutation

Pakistan Journal of Health Sciences, 2023-09, p.49-55

2023

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Visual impairment and progressive phthisis bulbi caused by recessive pathogenic variant in MARK3

Human molecular genetics, 2018-08, Vol.27 (15), p.2703-2711

2018

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Homozygous Variant in ARL3 Causes Autosomal Recessive Cone Rod Dystrophy

Investigative ophthalmology & visual science, 2019-11, Vol.60 (14), p.4811-4819

2019

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Molecular outcomes, clinical consequences, and genetic diagnosis of Oculocutaneous Albinism in Pakistani population

Scientific reports, 2017-03, Vol.7 (1), p.44185-44185, Article 44185

2017

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Genetic Testing of Non-familial Deaf Patients for CIB2 and GJB2 Mutations: Phenotype and Genetic Counselling

Biochemical genetics, 2017-12, Vol.55 (5-6), p.410-420

2017

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Identification and functional characterization of natural human melanocortin 1 receptor mutant alleles in Pakistani population

Pigment cell and melanoma research, 2015-11, Vol.28 (6), p.730-735

2015

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Biallelic Variants in EPHA2 Identified in Three Large Inbred Families with Early-Onset Cataract

Association of single nucleotide polymorphism variations in CRYAA and CRYAB genes with congenital cataract in Pakistani population

MTHFR and F5 genetic variations have association with preeclampsia in Pakistani patients: a case control study

Association of N and E Genes with ORF1b Gene for Early Detection of COVID-19 in Pakistani Patients

Impact of ACE2 gene variations on COVID-19 pathogenicity in Pakistani patients

Delineating the Spectrum of Genetic Variants Associated with Bardet-Biedl Syndrome in Consanguineous Pakistani Pedigrees

Outcomes of Total Dose Infusion Therapy in Pregnant Women with Iron Deficiency Anemia

Two novel variants in CYP1B1 gene: a major contributor of autosomal recessive primary congenital glaucoma with allelic heterogeneity in Pakistani patients

Serum and salivary Cu/Zn ratio as a diagnostic biomarker for oral submucosal fibrosis: an analysis of trace metals and LOX gene variants

Association of MSX1 Gene Variants with Nonsyndromic Cleft Lip and/or Palate in the Pakistani Population

Mutation Screening of the Cyp1b1 Gene Reveals Novel and Recurrent Pathogenic Variants in Pakistani Primary Congenital Glaucoma Patients

P.arg102ser is a common Pde6[alpha] mutation causing autosomal recessive retinitis pigmentosa in Pakistani families

P.arg102ser is a common Pde6? mutation causing autosomal recessive retinitis pigmentosa in Pakistani families

Vascular endothelial growth factor/platelet ratio as a potential biomarker for preeclampsia: A study of angiogenic markers in Pakistani patients

P.arg102ser is a common Pde6a mutation causing autosomal recessive retinitis pigmentosa in Pakistani families

Prevalence of Factor V Leiden Mutation in Healthy Females of Sindh, Pakistan and Comparison of Three Detection Methods in Resource-Limited Settings: Prevalence of Factor V Leiden Mutation

Visual impairment and progressive phthisis bulbi caused by recessive pathogenic variant in MARK3

Homozygous Variant in ARL3 Causes Autosomal Recessive Cone Rod Dystrophy

Molecular outcomes, clinical consequences, and genetic diagnosis of Oculocutaneous Albinism in Pakistani population

Genetic Testing of Non-familial Deaf Patients for CIB2 and GJB2 Mutations: Phenotype and Genetic Counselling

Identification and functional characterization of natural human melanocortin 1 receptor mutant alleles in Pakistani population

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