Results 171 to 180 of about 2,122,472 (401)
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
Genotypes of irreducible representations of finite p-groups [PDF]
arXiv, 2018 For any characteristic zero coefficient field, an irreducible representation of a finite $p$-group can be assigned a Roquette $p$-group, called the genotype. This has already been done by Bouc and Kronstein in the special cases Q and C. A genetic invariant of an irrep is invariant under group isomorphism, change of coefficient field, Galois conjugation,
arxiv
Clinical pharmacology and therapy, 2015 Tacrolimus is the mainstay immunosuppressant drug used after solid organ and hematopoietic stem cell transplantation. Individuals who express CYP3A5 (extensive and intermediate metabolizers) generally have decreased dose‐adjusted trough concentrations of
K. Birdwell +15 more
semanticscholar +1 more source
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
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
Il-4 Polymorphism in Patients with Acute Brucellosis in the Republic of Azerbaijan [PDF]
, 2018 Currently, there are isolated data on the relationship between IL-4 polymorphism (C-589T) and susceptibility to brucellosis. Therefore, the purpose of the study was to determine the frequency of polymorphism of IL-4 (C-589T) in patients with acute ...
Huseynov, E. M. (Elchin)
core
Two Examples of the -D-/-D- Genotype in an American Family [PDF]
, 1953 R. K. Waller, Ruth Sanger, O. B. Bobbitt
openalex +1 more source
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
Romanian Journal of Laboratory Medicine, 2019 Introduction: Rotavirus infection is a major cause of morbidity and mortality in infants and young children with diarrhea throughout the world.
Koçak Aylin Altay +6 more
doaj +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