Results 91 to 100 of about 181,932 (222)
INTEGRATION OF THE GENOTYPE IN LOCAL POPULATIONS OF THREE SPECIES OFDROSOPHILA [PDF]
, 1954 M. Vetukhiv
openalex +1 more source
Progressive Myoclonus Epilepsy: Distinctive MRI Changes in Cerebellar and Motor Networks
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Progressive myoclonus epilepsy (PME) is a rare generalized epilepsy syndrome with a well‐characterized genetic basis. The brain networks that are affected to give rise to the distinctive symptoms of PME are less well understood. Methods Eleven individuals with PME with a confirmed genetic diagnosis and 22 controls were studied.
Jillian M. Cameron +3 more
wiley +1 more source
Human blood genotypes dynamics [PDF]
arXiv, 2013 We give a complete closed form description of the evolution of human blood genotypes frequencies (in the ABO and Rh classification) after any (finite or infinite) number of generations and for any initial distribution.
arxiv
A Specific Abnormality Associated with a Variety of Genotypes [PDF]
, 1944 L. C. Dunn, S. Gluecksohn‐Schoenheimer
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Novel Phenotypes and Deep Intronic Variant Expand TH‐Associated Dopa‐Responsive Dystonia Spectrum
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Approximately 20% of dopa‐responsive dystonia (DRD) cases remain genetically unresolved. Using whole‐genome sequencing, we identified two TH variants in a young DRD patient, including a novel deep intronic variant. Minigene assays confirmed that this variant causes aberrant splicing.
Xiaosheng Zheng +6 more
wiley +1 more source
Generating Synthetic Genotypes using Diffusion Models [PDF]
arXivIn this paper, we introduce the first diffusion model designed to generate complete synthetic human genotypes, which, by standard protocols, one can straightforwardly expand into full-length, DNA-level genomes. The synthetic genotypes mimic real human genotypes without just reproducing known genotypes, in terms of approved metrics.
arxiv
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Certain frontotemporal lobar degeneration subtypes, including TDP‐A and B, can either occur sporadically or in association with specific genetic mutations. It is uncertain whether syndromic or imaging features previously associated with these patient groups are subtype or genotype specific.
Sean Coulborn +17 more
wiley +1 more source
FGF14 GAA Intronic Expansion in Unsolved Adult‐Onset Ataxia in the Care4Rare Canada Consortium
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background and Objectives Spinocerebellar ataxias (SCA) represent a clinically and genetically heterogeneous group of progressive neurodegenerative diseases with prominent cerebellar atrophy. Recently, a novel pathogenic repeat expansion in intron 1 of FGF14 was identified, causing adult‐onset SCA (SCA27B). We aimed to determine the proportion
Alexanne Cuillerier +20 more
wiley +1 more source
Romanian Journal of Laboratory Medicine, 2013 Obiective. Scopul acestui studiu a fost de a examina efectele polimorfismelor (SNPs) genei PON1 la nivelul regiunii promotor (-909 şi -832) şi a primului exon (+575, 20352A>G, rezultând substituirea Q192R) asupra activităţilor paraoxonazei-1 (PON1) într ...
Ilea Irina +4 more
doaj +1 more source