<p>Genotypes of patients harboring mutations in single autosomal-recessive inherited gene.</p
Recent attempts to detect mutations involving single base changes or small deletions that are specif...
<p>Pedigrees, mutations, and audiograms of the patients with homozygous <i>CDH23</i> mutations.</p
In studies of polygenic disorders, scanning the genetic variants can be used to identify variant com...
<p>In bold is the mutation in CAV1. MAF EVS = Minor allele frequency Exome variant server (all popul...
Frequency of gene mutations and germline FLT1 allelic variants in all patients and IMDC intermediate...
<p>Clinical Characteristics and Detected Deleterious Mutations in Each Patient Pair.</p
<p>Pathogenic genetic variants identified in affected individuals with overlapping syndromes.</p
<p>* name used in the literature</p><p>Genotypes of genetic variations in controls and UTI patients....
<p>Synopsis of alpha-galactosidase gene mutations in 14 patients included in the study.</p
<p>Prevalence of the genotypes of the four studied SNPs in patients with different clinical severity...
Phenotype distribution among males and females with G6PD gene mutation according to WHO classificati...
<p>Prevalence of mutations in the investigated genes in our cohort of 47 CORD patients.</p
<p>The Percentage of Cases of MDS and AML Harboring Specific Classes of Genetic Mutations</p
<p>Phenotypic findings in 59 patients from 52 families carrying the p.(Cys759Phe) variant, classifie...
Genes mutated in patients who were reversely phenotyped (based on the genetic findings) are indicate...
Recent attempts to detect mutations involving single base changes or small deletions that are specif...
<p>Pedigrees, mutations, and audiograms of the patients with homozygous <i>CDH23</i> mutations.</p
In studies of polygenic disorders, scanning the genetic variants can be used to identify variant com...
<p>In bold is the mutation in CAV1. MAF EVS = Minor allele frequency Exome variant server (all popul...
Frequency of gene mutations and germline FLT1 allelic variants in all patients and IMDC intermediate...
<p>Clinical Characteristics and Detected Deleterious Mutations in Each Patient Pair.</p
<p>Pathogenic genetic variants identified in affected individuals with overlapping syndromes.</p
<p>* name used in the literature</p><p>Genotypes of genetic variations in controls and UTI patients....
<p>Synopsis of alpha-galactosidase gene mutations in 14 patients included in the study.</p
<p>Prevalence of the genotypes of the four studied SNPs in patients with different clinical severity...
Phenotype distribution among males and females with G6PD gene mutation according to WHO classificati...
<p>Prevalence of mutations in the investigated genes in our cohort of 47 CORD patients.</p
<p>The Percentage of Cases of MDS and AML Harboring Specific Classes of Genetic Mutations</p
<p>Phenotypic findings in 59 patients from 52 families carrying the p.(Cys759Phe) variant, classifie...
Genes mutated in patients who were reversely phenotyped (based on the genetic findings) are indicate...
Recent attempts to detect mutations involving single base changes or small deletions that are specif...
<p>Pedigrees, mutations, and audiograms of the patients with homozygous <i>CDH23</i> mutations.</p
In studies of polygenic disorders, scanning the genetic variants can be used to identify variant com...
DOI
Add to ORKG