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Factor V Q 506 Mutation In Children With Thrombosis
(Wiley-Liss, 1996)
The factor V Leiden mutation in 12-children with thrombosis and in 20 controls was investigated, Five heterozygous individuals and 1 homozygous individual among the cases with thrombosis and 1 heterozygous individual among ...
Heterogeneous Spectrum Of Mutations In The Fanconi Anaemia Group A Gene
(Stockton Press, 1999)
Fanconi anaemia (FA) is a genetically heterogeneous autosomal recessive disorder associated with chromosomal fragility, bone-marrow failure, congenital abnormalities and cancer. The gene for complementation group A (FAA), ...
Effect of Formoterol on Clinical Parameters and Lung Functions in Patients With Bronchial Asthma: A Randomised Controlled Trial
(British Med Journal Publ Group, 1999)
Aims-To determine the role of formoterol in the treatment of children with bronchial asthma who are symptomatic despite regular use of inhaled corticosteroids. Methods-A randomised, double blind, parallel group, placebo ...
Fish Studies In 45 Patients With Rubinstein-Taybi Syndrome: Deletions Associated With Polysplenia, Hypoplastic Left Heart And Death In Infancy
(Nature Publishing Group, 1999)
Rubinstein-Taybi syndrome (RTS) is a dominant Mendelian disorder characterised by mental retardation, a typical facies, broad thumbs and short stature. Previous reports indicated that 4-25% of RTS patients have a submicroscopic ...
Fukuyama Type Congenital Muscular-Dystrophy In A Turkish Child
(Canadian J Neurol Sci Inc, 1990)
Heights And Weights Of Primary School Children Of Different Social Background In Ankara, Turkey
(Oxford Univ Press, 1997)
A cross-sectional anthropometric survey was carried out in a low socio-economic and high socioeconomic region of Ankara, Turkey, to measure the weights and heights of school children, The study group consisted of 5289 ...
Defects In The E2 Lipoyl Transacetylase And The X-Lipoyl Containing Component Of The Pyruvate-Dehydrogenase Complex In Patients With Lactic Acidemia
(Amer Soc Clinical Investigation Inc, 1990)
Calpainopathy - A Survey of Mutations and Polymorphisms
(Cell Press, 1999)
Limb-girdle muscular dystrophy-type 2A (LGMD2A) is an autosomal recessive disorder characterized mainly by symmetrical and selective atrophy of the proximal limb muscles. It derives, from defects in the, human CAPN3 gene, ...