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Toplam kayıt 55, listelenen: 51-55
Neocentric Small Supernumerary Marker Chromosomes (Ssmc) - Three More Cases And Review Of The Literature
(Karger, 2007)
Here we report on three new patients with neocentric small supernumerary marker chromosomes (sSMC) derived from chromosome 2, 13 and 15, respectively. The sSMC( 13) and sSMC( 15) had inverted duplicated shapes and the sSMC( ...
Intelligent Polymers as Nonviral Vectors
(Nature Publishing Group, 2005)
The successful gene therapy largely depends on the vector type that allows a selective and efficient gene delivery to target cells with minimal toxicity. Nonviral vectors are much safer and cheaper, can be produced easily ...
Vacuoliting Megalencephalic Leukoencephalopathy With Subcortical Cysts, Mapped To Chromosome 22Q(Tel)
(Univ Chicago Press, 2000)
The leukodystrophies form a complex group of orphan genetic disorders that primarily affect myelin, the main constituent of the brain white matter. Among the leukodystrophies of undetermined etiology, a new clinical entity ...
A Molecular and Clinical Study of Larsen Syndrome Caused by Mutations in FLNB
(BMJ, 2007)
Background: Larsen syndrome is an autosomal dominant osteochondrodysplasia characterised by large-joint dislocations and craniofacial anomalies. Recently, Larsen syndrome was shown to be caused by missense mutations or ...
A Cross Section of Autosomal Recessive Limb-Girdle Muscular Dystrophies In 38 Families
(BMJ, 2000)
Limb-girdle muscular dystrophies constitute a broad range of clinical and genetic entities. We have evaluated 38 autosomal recessive limb-girdle muscular dystrophy (LGMD2) families by linkage analysis for the known loci ...