Add to ORKG[No abstract available] Letter Comment in Phenotypic heterogeneity in CF sibs compound heterozygous for the G85E and 621 + 1G-->T mutations. [Clin Genet. 1995
The cystic fibrosis gene was recently cloned, and a three-base deletion removing phenylalanine 508 f...
The diagnosis of cystic fibrosis (CF) is commonly confirmed by molecular genetics with the presence ...
The high incidence of cystic fibrosis (CF) in most European populations (and populations of European...
We have confirmed heterogenity in C F using a different combination of primary clinical variables th...
Background and methods. Both the clinical manifestations of cystic fibrosis and the genotypes of pat...
Genotype-phenotype association in cystic fibrosis (CF) is difficult because of heterogeneous disease...
In this European study, the phenotype in 68 patients, homozygous or compound heterozygous for the G8...
The members of the Cystic Fibrosis Genotype-Phenotype Consortium are listed in the AppendixBackgroun...
Here, we describe a cystic fibrosis (CF) family with affected siblings, two of whom have a combinati...
We aimed to evaluate type, frequency, and variety of pathogenic variants according to clinical and d...
Cystic fibrosis (CF) is a common genetic disorder in the Caucasian population. The gene was identifi...
Cystic Fibrosis (CF) is characterized by remarkable variability in severity, rate of disease progres...
Currently, more than 1,000 mutations have been identified in the cystic fibrosis transmembrane regulat...
Genetic, environmental, and stochastic factors contribute to phenotype variation of diseases in chil...
Background: A clinical heterogeneity was reported in patients with Cystic Fibrosis (CF) with the sam...
The cystic fibrosis gene was recently cloned, and a three-base deletion removing phenylalanine 508 f...
The diagnosis of cystic fibrosis (CF) is commonly confirmed by molecular genetics with the presence ...
The high incidence of cystic fibrosis (CF) in most European populations (and populations of European...
We have confirmed heterogenity in C F using a different combination of primary clinical variables th...
Background and methods. Both the clinical manifestations of cystic fibrosis and the genotypes of pat...
Genotype-phenotype association in cystic fibrosis (CF) is difficult because of heterogeneous disease...
In this European study, the phenotype in 68 patients, homozygous or compound heterozygous for the G8...
The members of the Cystic Fibrosis Genotype-Phenotype Consortium are listed in the AppendixBackgroun...
Here, we describe a cystic fibrosis (CF) family with affected siblings, two of whom have a combinati...
We aimed to evaluate type, frequency, and variety of pathogenic variants according to clinical and d...
Cystic fibrosis (CF) is a common genetic disorder in the Caucasian population. The gene was identifi...
Cystic Fibrosis (CF) is characterized by remarkable variability in severity, rate of disease progres...
Currently, more than 1,000 mutations have been identified in the cystic fibrosis transmembrane regulat...
Genetic, environmental, and stochastic factors contribute to phenotype variation of diseases in chil...
Background: A clinical heterogeneity was reported in patients with Cystic Fibrosis (CF) with the sam...
The cystic fibrosis gene was recently cloned, and a three-base deletion removing phenylalanine 508 f...
The diagnosis of cystic fibrosis (CF) is commonly confirmed by molecular genetics with the presence ...
The high incidence of cystic fibrosis (CF) in most European populations (and populations of European...