Results 41 to 50 of about 319,715 (326)
Episodic neurologic disorders: syndromes, genes, and mechanisms. [PDF]
, 2013 Many neurologic diseases cause discrete episodic impairment in contrast with progressive deterioration. The symptoms of these episodic disorders exhibit striking variety.
Fu, Ying-Hui +2 more
core +2 more sources
Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders
Nucleic Acids Res., 2004 Online Mendelian Inheritance in Man (OMIM™) is a comprehensive, authoritative and timely knowledgebase of human genes and genetic disorders compiled to support human genetics research and education and the practice of clinical genetics.
A. Hamosh +4 more
semanticscholar +1 more source
Journal of Microbiology & Biology Education, 2008 Students can have difficulty comprehending complex concepts in science. They can memorize the definition but do not understand the underlying biological principles.
Pamela A. Marshall
doaj +1 more source
Celer: an Efficient Program for Genotype Elimination [PDF]
Electronic Proceedings in Theoretical Computer Science, 2010 This paper presents an efficient program for checking Mendelian consistency in a pedigree. Since pedigrees may contain incomplete and/or erroneous information, geneticists need to pre-process them before performing linkage analysis.
Nicoletta De Francesco +2 more
doaj +1 more source
An heuristic filtering tool to identify phenotype-associated genetic variants applied to human intellectual disability and canine coat colors [PDF]
, 2015 Background: Identification of one or several disease causing variant(s) from the large collection of variants present in an individual is often achieved by the sequential use of heuristic filters.
Bosmans, Tim +8 more
core +5 more sources
Hepatology, EarlyView., 2022 A deleterious variant of FCHSD1 results in mTOR pathway overactivation and may cause porto‐sinusoidal vascular disorder (PSVD). The pedigree of the family demonstrated an autosomal dominant disease with variable expressivity. Whole‐genome sequencing and Sanger sequencing both validated the existence of the FCHSD1 variant and the heterozygosity of c ...
Jingxuan Shan +19 more
wiley +1 more source
BMC Genetics, 2010 Background Transmission ratio distortion (TRD), defined as statistically significant deviation from expected 1:1 Mendelian ratios of allele inheritance, results in a reduction of the expected progeny of a given genotype.
de Villena Fernando PM +6 more
doaj +1 more source
Bezmiâlem Science, 2020 Mutations in genes encoding the formation of ion channels may cause epileptic syndromes. These epileptic syndromes are generally divided into generalized and partial epilepsies.
Halil Aziz VELİOĞLU +1 more
doaj +1 more source
The Extended (Evolutionary) Synthesis Debate: Where Science Meets Philosophy [PDF]
, 2014 Recent debates between proponents of the modern evolutionary synthesis (the standard model in evolutionary biology) and those of a possible extended synthesis are a good example of the fascinating tangle among empirical, theoretical, and conceptual or ...
Finkelman, Leonard, Pigliucci, Massimo
core +2 more sources