Results 171 to 180 of about 87,727 (384)
Expanding the Genetic and Phenotypic Spectrum of POLRMT‐Related Mitochondrial Disease
Clinical Genetics, EarlyView.We identified potentially damaging monoallelic and biallelic POLRMT variants in affected individuals from six unrelated families, thus extending both the clinical and genetic phenotypes of POLRMT‐related mitochondrial disease. ABSTRACT Mitochondrial diseases are a complex group of conditions exhibiting significant phenotypic and genetic heterogeneity ...
Mahmoud R. Fassad +20 more
wiley +1 more source
A CASE OF MICROCEPHALY FOLLOWING EMBRYONIC ROENTGEN IRRADIATION
, 1930 Edgar A. Doll, Douglas P. Murphy
openalex +1 more source
Microcephaly-cardiomyopathy: a new autosomal recessive phenotype? [PDF]
, 1991 Ingrid Winship +3 more
openalex +1 more source
Association between Zika virus and microcephaly in French Polynesia, 2013–15: a retrospective study
The Lancet, 2016 S. Cauchemez +11 more
semanticscholar +1 more source
Diagnostic Algorithm for Microcephaly
Pediatric Neurology Briefs, 2013 Investigators from Addenbrookes Hospital, Cambridge, UK, provide a diagnostic structure to follow when presented with a child with microcephaly.
openaire +4 more sources
Unraveling the Role of WDR91: Case Report of a Previously Unrecognized Clinical Entity
Clinical Genetics, EarlyView.A novel case is herein described to expand the genetic and clinical spectrum of WDR91 and characterize a previously unrecognized autosomal recessive neurodevelopmental disorder. WDR91 deficiency results in neuronal loss, cortical thinning, and impaired brain development.
Nikolaos M. Marinakis +14 more
wiley +1 more source
Legacy and social media respectively influence risk perceptions and protective behaviors during emerging health threats: A multi-wave analysis of communications on Zika virus cases. [PDF]
, 2018 ObjectiveBoth legacy media, such as television and newspapers, and online social media are potentially important but incompletely understood sources of information in the face of emerging public health risks.
Albarracín, Dolores +5 more
core
Clinical Genetics, EarlyView.We report on the clinical characteristics of three new patients with pathogenic TRRAP variants expanding the syndrome's phenotype. In order to investigate the TRRAP potential involvement in skeletal development, osteoclastogenesis in Patient 1 was evaluated and TRRAP expression in osteoclasts and osteoblasts were analyzed.
Chiara Minotti +17 more
wiley +1 more source
A Third Novel Locus for Primary Autosomal Recessive Microcephaly Maps to Chromosome 9q34 [PDF]
, 2000 Leanne Moynihan +9 more
openalex +1 more source