Novel heterogeneous missense mutations in five families with congenital fiber type disproportion (CFTD) were identified in a study at Children's Hospital at Westmead, University of Sydney, and other centers in Australia, Canada, and France
The large heterogeneity in the cystic fibrosis (CF) gene is the main difficulty for genotype charact...
Cystic fibrosis (CF) is a common genetic disorder in the Caucasian population. The gene was identifi...
We present new data about a patient affected by congenital fibre type disproportion (CFTD) and non-c...
International audienceThe main histological abnormality in congenital fiber type disproportion (CFTD...
International audienceOBJECTIVE: Congenital fiber type disproportion (CFTD) is a rare form of congen...
Objective: Congenital fiber type disproportion (CFTD) is a rare form of congenital myopathy in which...
The main histological abnormality in congenital fiber type disproportion (CFTD) is hypotrophy of typ...
Congenital fiber type disproportion is a rare type of congenital myopathy which presents as hypotoni...
Congenital myopathy with fibre type disproportion (CFTD) has been associated with mutations in ACTA1...
Item does not contain fulltextThe main diagnostic feature of congenital fibre type disproportion is ...
Congenital myopathy with fibre type disproportion (CFTD) has been associated with mutations in ACTA1...
International audienceArray comparative genomic hybridization (aCGH) has progressively replaced conv...
Three reports on the genetics of CF appear in this issue of The American Journal of Human Genetics. ...
Congenital fibre type disproportion (CFTD) is a histological abnormality characterized by small type...
The large heterogeneity in the cystic fibrosis (CF) gene is the main difficulty for genotype charact...
Cystic fibrosis (CF) is a common genetic disorder in the Caucasian population. The gene was identifi...
We present new data about a patient affected by congenital fibre type disproportion (CFTD) and non-c...
International audienceThe main histological abnormality in congenital fiber type disproportion (CFTD...
International audienceOBJECTIVE: Congenital fiber type disproportion (CFTD) is a rare form of congen...
Objective: Congenital fiber type disproportion (CFTD) is a rare form of congenital myopathy in which...
The main histological abnormality in congenital fiber type disproportion (CFTD) is hypotrophy of typ...
Congenital fiber type disproportion is a rare type of congenital myopathy which presents as hypotoni...
Congenital myopathy with fibre type disproportion (CFTD) has been associated with mutations in ACTA1...
Item does not contain fulltextThe main diagnostic feature of congenital fibre type disproportion is ...
Congenital myopathy with fibre type disproportion (CFTD) has been associated with mutations in ACTA1...
International audienceArray comparative genomic hybridization (aCGH) has progressively replaced conv...
Three reports on the genetics of CF appear in this issue of The American Journal of Human Genetics. ...
Congenital fibre type disproportion (CFTD) is a histological abnormality characterized by small type...
The large heterogeneity in the cystic fibrosis (CF) gene is the main difficulty for genotype charact...
Cystic fibrosis (CF) is a common genetic disorder in the Caucasian population. The gene was identifi...
We present new data about a patient affected by congenital fibre type disproportion (CFTD) and non-c...
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