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PurposeTo assess the clinical performance of an expanded noninvasive prenatal screening (NIPS) test (“NIPS-Plus”) for detection… Expand Early‐onset epileptic encephalopathy (EOEE) is a heterogeneous group of neurodevelopmental disorders characterised by infantile… Expand Mather et al. 1 Title: False Positive Cell Free DNA Screening for Microdeletions Due to Non-Pathogenic 2 Copy Number Variants 3… Expand Implicating particular genes in the generation of complex brain and behavior phenotypes requires multiple lines of evidence. The… Expand Aims: Our purpose was to identify the genetic defect in a Chinese cerulean cataract family. Methods: After obtaining informed… Expand Goldenhar syndrome (GS) represents a variety of craniofacial, auricular and vertebral anomalies and has also been called… Expand Although recurrent chromosomal alterations occur in chronic lymphocytic leukemia (CLL), relatively few affected tumor suppressors… Expand Abstract Primary central nervous system lymphomas (PCNSLs) are diffuse large B cell lymphomas confined to the brain. Only minimal… Expand To the Editor:
In the November issue of the Journal, Slater et al. (2005) introduced a high-resolution method for the… Expand Mutational activation of KIT or PDGFRA is considered an early step in pathogenesis of gastrointestinal stromal tumors (GISTs… Expand