Sentences with phrase «phenotypic spectrum»
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Conclusions: Here we report on variants in NBAS, as a cause of bone fragility in humans, and expand the phenotypic spectrum associated with NBAS.
Conclusions: This series expands the phenotypic spectrum of this severe disorder and highlights its surprisingly high frequency.
In a new paper published this week in the American Journal of Medical Genetics, first author Miguel del Campo, MD, PhD, associate professor in the Department of Pediatrics at University of California San Diego School of Medicine, and colleagues in Brazil and Spain, describe the phenotypic spectrum or set of observable characteristics of congenital Zika (ZIKV) syndrome, based upon clinical evaluations and neuroimaging of 83 Brazilian children with presumed or confirmed ZIKV congenital infections.
Researchers describe phenotypic spectrum based on 83 affected children in Brazil.»
Not exact matches
Noah primarily works to further the goals of the SPARK program, assisting in the analysis of genomic and phenotypic data to help further the understanding of autism spectrum disorders.
Children with autism spectrum disorders (ASD) experience a range of social deficits that are heterogeneous and multidimensional both in their genetic underpinnings and in their phenotypic expression.