List of works - Muhammad Ajmal

A missense mutation in the splicing factor gene DHX38 is associated with early-onset retinitis pigmentosa with macular coloboma.

scientific article

A novel pathogenic nonsense triple-nucleotide mutation in the low-density lipoprotein receptor gene and its clinical correlation with familial hypercholesterolemia

scientific article published on 03 April 2011

Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in Denmark

scientific article

Decreased serum PON1 arylesterase activity in familial hypercholesterolemia patients with a mutated LDLR gene

scientific article published on 23 July 2018

Genetic and clinical characterization of Pakistani families with Bardet-Biedl syndrome extends the genetic and phenotypic spectrum

scientific article published on 06 October 2016

Genetic spectrum of autosomal recessive non-syndromic hearing loss in Pakistani families.

scientific article

Homozygosity mapping and targeted sanger sequencing reveal genetic defects underlying inherited retinal disease in families from pakistan.

scientific article

Homozygosity mapping identifies genetic defects in four consanguineous families with retinal dystrophy from Pakistan.

scientific article published on 7 November 2012

Identification of a recurrent insertion mutation in the LDLR gene in a Pakistani family with autosomal dominant hypercholesterolemia

scientific article published on 10 March 2010

Implementation of public health genomics in Pakistan

scientific article published on 17 May 2019

In Silico Functional Meta-Analysis of 5,962 ABCA4 Variants in 3,928 Retinal Dystrophy Cases

scientific article published on 3 January 2017

Molecular Mechanism of Quorum-Sensing in Enterococcus faecalis: Its Role in Virulence and Therapeutic Approaches

scientific article

Novel and recurrent LDLR gene mutations in Pakistani hypercholesterolemia patients

scientific article

Nutrient-induced antibiotic resistance in Enterococcus faecalis in the eutrophic environment

scientific article published on 17 September 2016

Prevalence of human T-lymphotropic virus 1/2 in Nigeria's capital territory and meta-analysis of Nigerian studies

scientific article published on 16 April 2019

Role of tissue plasminogen activator and plasminogen activator inhibitor polymorphism in myocardial infarction

scientific article published on 17 November 2010

The genetic spectrum of familial hypercholesterolemia in Pakistan

scientific article published on 25 March 2013

The molecular basis of retinal dystrophies in pakistan.

scientific article published on 11 March 2014

List of works by Muhammad Ajmal

A missense mutation in the splicing factor gene DHX38 is associated with early-onset retinitis pigmentosa with macular coloboma.

A novel pathogenic nonsense triple-nucleotide mutation in the low-density lipoprotein receptor gene and its clinical correlation with familial hypercholesterolemia

Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in Denmark

Decreased serum PON1 arylesterase activity in familial hypercholesterolemia patients with a mutated LDLR gene

Genetic and clinical characterization of Pakistani families with Bardet-Biedl syndrome extends the genetic and phenotypic spectrum

Genetic spectrum of autosomal recessive non-syndromic hearing loss in Pakistani families.

Homozygosity mapping and targeted sanger sequencing reveal genetic defects underlying inherited retinal disease in families from pakistan.

Homozygosity mapping identifies genetic defects in four consanguineous families with retinal dystrophy from Pakistan.

Identification of a recurrent insertion mutation in the LDLR gene in a Pakistani family with autosomal dominant hypercholesterolemia

Implementation of public health genomics in Pakistan

In Silico Functional Meta-Analysis of 5,962 ABCA4 Variants in 3,928 Retinal Dystrophy Cases

Molecular Mechanism of Quorum-Sensing in Enterococcus faecalis: Its Role in Virulence and Therapeutic Approaches

Novel and recurrent LDLR gene mutations in Pakistani hypercholesterolemia patients

Nutrient-induced antibiotic resistance in Enterococcus faecalis in the eutrophic environment

Prevalence of human T-lymphotropic virus 1/2 in Nigeria's capital territory and meta-analysis of Nigerian studies

Role of tissue plasminogen activator and plasminogen activator inhibitor polymorphism in myocardial infarction

The genetic spectrum of familial hypercholesterolemia in Pakistan

The molecular basis of retinal dystrophies in pakistan.