Lista de obras - Muhammad Ajmal - Dominio Público Uruguay

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

artículo científico publicado en 2014

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

artículo científico publicado en 2011

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

artículo científico publicado en 2016

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.

artículo científico publicado en 2014

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

artículo científico publicado en 2015

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

artículo científico publicado en 2012

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

artículo científico publicado en 2010

Implementation of public health genomics in Pakistan

artículo científico publicado en 2019

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

artículo científico publicado en 2017

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

artículo científico publicado en 2017

Novel and recurrent LDLR gene mutations in Pakistani hypercholesterolemia patients

artículo científico publicado en 2012

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

artículo científico publicado en 2016

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

artículo científico publicado en 2019

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

artículo científico publicado en 2010

The genetic spectrum of familial hypercholesterolemia in Pakistan

artículo científico publicado en 2013

The molecular basis of retinal dystrophies in pakistan.

artículo científico publicado en 2014

Lista de obras de 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.