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Toplam kayıt 15, listelenen: 11-15
The Phenotypic And Molecular Genetic Spectrum Of Alstrom Syndrome In 44 Turkish Kindreds And A Literature Review Of Alstrom Syndrome In Turkey
(Nature Publishing Group, 2015)
Alstrom syndrome (ALMS) is an autosomal recessive disease characterized by multiple organ involvement, including neurosensory vision and hearing loss, childhood obesity, diabetes mellitus, cardiomyopathy, hypogonadism, and ...
Poly(A)-Specific Ribonuclease (Parn) Mediates 3 '-End Maturation of the Telomerase Rna Component
(Nature Publishing Group, 2015)
Mutations in the PARN gene (encoding poly(A)-specific ribonuclease) cause telomere diseases including familial idiopathic pulmonary fibrosis (IPF) and dyskeratosis congenita(1,2), but how PARN deficiency impairs telomere ...
The Effect of Serum and Follicular Fluid Amyloid-Associated Protein Levels on in Vitro Fertilization Outcome in Patients with Polycystic Ovary Syndrome
(Springer/Plenum Publishers, 2015)
In this study, we aimed to investigate serum and follicular fluid amyloid A protein levels in non-obese non-hyperandrogenic patients with polycystic ovary syndrome (PCOS) undergoing in vitro fertilization (IVF) and IVF ...
An Appeal To The Global Health Community For A Tripartite Innovation: An "Essential Diagnostics List," "Health In All Policies," And "See-Through 21(St) Century Science And Ethics"
(Mary Ann Liebert, Inc, 2015)
Diagnostics spanning a wide range of new biotechnologies, including proteomics, metabolomics, and nanotechnology, are emerging as companion tests to innovative medicines. In this Opinion, we present the rationale for ...
Unraveling The Genetic Landscape Of Autosomal Recessive Charcot-Marie-Tooth Neuropathies Using A Homozygosity Mapping Approach
(Springer, 2015)
Autosomal recessive forms of Charcot-Marie-Tooth disease (ARCMT) are rare but severe disorders of the peripheral nervous system. Their molecular basis is poorly understood due to the extensive genetic and clinical ...