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Targeted Next-Generation Sequencing of 21 candidate genes in hereditary ovarian cancer patients
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2022-11-30
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Targeted sequencing of candidate regions on chromosome 22q predisposing to multiple schwannomas
Constitutional LZTR1 or SMARCB1 pathogenic variants have been found in ~86% of familial and ~40% of sporadic schwannomatosis cases. Hence, we performed massively parallel sequencing of the entire LZTR
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Clinical impact of a targeted next-generation sequencing gene panel for autoinflammation and vasculitis
BackgroundMonogenic autoinflammatory diseases (AID) are a rapidly expanding group of genetically diverse but phenotypically overlapping systemic inflammatory disorders associated with dysregulated inn
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UCD Cleft primary palate 4.9 Mb candidate region targeted sequencing
Birds of the congenic inbred chicken line UCD Cleft primary palate (UCD cpp.003) carry an autosomal recessive mutation observed as a lethal developmental defect in affected homozygous mutant progeny.
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Role Of Ovarian Metastases In Colorectal Cancer (ROMIC): a Dutch study protocol to evaluate the effect of prophylactic salpingo-oophorectomy in postmenopausal women
Interventions: This study evaluates the effect of an existing procedure implemented in the local CRC pathway as follows: prophylactic salpingo-oophorectomy versus standard care in a female population
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Synthesis, Structural Characterization, Solution Behavior, and in Vitro Antiproliferative Properties of a Series of Gold Complexes with 2-(2′-Pyridyl)benzimidazole as Ligand: Comparisons of Gold(III) versus Gold(I) and Mononuclear versus Binuclear Derivatives
A variety of gold(III) and gold(I) derivatives of 2-(2′-pyridyl)benzimidazole (pbiH) were synthesized and fully characterized and their antiproliferative properties evaluated in a representative ov
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