Results 201 to 210 of about 157,645 (329)

Severity of effect considerations regarding the use of mutation as a toxicological endpoint for risk assessment: A report from the 8th International Workshop on Genotoxicity Testing (IWGT)

Environmental and Molecular Mutagenesis, EarlyView.
Abstract Exposure levels without appreciable human health risk may be determined by dividing a point of departure on a dose–response curve (e.g., benchmark dose) by a composite adjustment factor (AF). An “effect severity” AF (ESAF) is employed in some regulatory contexts.
Barbara L. Parsons, Marc A. Beal, Kerry L. Dearfield, George R. Douglas, Min Gi, B. Bhaskar Gollapudi, Robert H. Heflich, Katsuyoshi Horibata, Michelle Kenyon, Alexandra S. Long, David P. Lovell, Anthony M. Lynch, Meagan B. Myers, Stefan Pfuhler, Alisa Vespa, Andreas Zeller, George E. Johnson, Paul A. White   +17 more
wiley   +1 more source

Zinner syndrome: report of a case and whole exome sequencing. [PDF]

Basic Clin Androl
He J, Wei C, Huang Y, Xu F, Wang M, Chen Z.   +5 more
europepmc   +1 more source

Whole-exome sequencing identifies a novel somatic mutation in MMP8 associated with a t(1;22)-acute megakaryoblastic leukemia [PDF]

, 2013
Yeonwoo Kim, Vincent Schulz, N Satake, Tanja A. Grüber, Ana Teixeira, Stephanie Halene, Patrick G. Gallagher, Daniela S. Krause   +7 more
openalex   +1 more source

Whole exome sequencing identifies mutational signatures of vitreoretinal lymphoma

Haematologica, 2020
Junwon Lee, Borahm Kim, Hyeonah Lee, Heejung Park, Suk Ho Byeon, Jong Rak Choi, Sung Chul Lee, Seung-Tae Lee, Christopher Seungkyu Lee   +8 more
doaj   +1 more source

Whole exome sequencing as a screening tool in dogs: A pilot study. [PDF]

Comput Struct Biotechnol J
Boeykens F, Bogaerts E, Vossaert L, Peelman L, Van Nieuwerburgh F, Saunders JH, Broeckx BJG.   +6 more
europepmc   +1 more source

Annotation of Genes Having Candidate Somatic Mutations in Acute Myeloid Leukemia with Whole-Exome Sequencing Using Concept Lattice Analysis [PDF]

, 2013
Kye Hwa Lee, Jae Hyeun Lim, Ju Han Kim
openalex   +1 more source

Compound heterozygosity of a De novo 16q24.1 deletion and missense mutation in COX4I1 leads to developmental regression, intellectual disability, and seizures

Epilepsia Open, EarlyView.
Abstract The COX4I1 is responsible for encoding a crucial component of cytochrome c oxidase, integral to electron transport in the mitochondrial respiratory chain. Mutations in COX4I1 can result in a rare autosomal recessive disorder characterized by growth retardation, slow weight gain, microcephaly, and potentially, hematologic symptoms such as ...
Zhen Liu, Mei He, Xuan Luo, Hu Pan, Xiao Mao, Jinping Su   +5 more
wiley   +1 more source

Clinical utility of trio whole exome sequencing in fetuses with ultrasound anomalies. [PDF]

Hum Genomics
Zeng Z, Zhang L, Zhou Y, Zhang X, Yi H, Li H, Liu Y, Li J, Chen Q, Chen Y, Yu G, Yi J, Zhang Y, Zhang H, Dong Y.   +14 more
europepmc   +1 more source

Novel Mutations in Familial Dilated Cardiomyopathy Identified by Whole Exome Sequencing [PDF]

, 2013
Rafik Tadros, Nathalie Chami, Mélissa Beaudoin, Ken Sin Lo, Laura Robb, François Lemarbre, Mario Talajic, Guillaume Lettre   +7 more
openalex   +1 more source

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source