Unusual Diversity of Sex Chromosomes in African Cichlid Fishes [PDF]
, 2018 William Gammerdinger, Thomas D. Kocher
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Chromosome-scale genome assembly of a natural diploid kiwifruit (Actinidia chinensis var. deliciosa) [PDF]
, 2023 Hui Xia +9 more
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Copy Number Variants and Their Association With Intracerebral Hemorrhage Risk: A Case–Control Study
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Introduction Intracerebral Hemorrhage (ICH) is a leading cause of morbidity and mortality worldwide and lacks effective therapeutic interventions. Despite previous studies, the genetic underpinnings of ICH remain poorly understood. We sought to investigate the role of copy number variants (CNVs) in ICH pathophysiology to identify novel ...
Savvina Prapiadou +12 more
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Compound Heterozygote of Point Mutation and Chromosomal Microdeletion Involving OTUD6B Coinciding with ZMIZ1 Variant in Syndromic Intellectual Disability [PDF]
, 2021 Tim Phetthong +4 more
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Autosomal Recessive Spastic Ataxia of Charlevoix‐Saguenay in Two Half‐Siblings
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Autosomal recessive spastic ataxia of Charlevoix‐Saguenay (ARSACS) is caused by biallelic pathogenic variants in the SACS gene. We report the clinical, radiologic and neurophysiologic features of a pair of half‐siblings who presented with progressive cerebellar ataxia, peripheral neuropathy and upper motor neuron signs.
Dennis Yeow +6 more
wiley +1 more source
, 1979 The study of the genetic control of purothionins in wheat endosperm illustrates some of the problems and pitfalls faced in aneuploid analysis of regulatory effects.
Carbonero Zalduegui, Pilar +3 more
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qnrE1 , a Member of a New Family of Plasmid-Located Quinolone Resistance Genes, Originated from the Chromosome of Enterobacter Species [PDF]
, 2017 Ezequiel Albornoz +7 more
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Identification and validation of a key genomic region on chromosome 6 for resistance to Fusarium stalk rot in tropical maize [PDF]
, 2022 Zerka Rashid +4 more
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Multi‐Omics Integration for Advancing Glioma Precision Medicine
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Gliomas are among the most malignant and aggressive tumors of the central nervous system, characterized by the absence of early diagnostic markers, poor prognosis, and a lack of effective treatments. Advances in high‐throughput technologies have facilitated a refined molecular classification of gliomas, incorporating genetic features. However,
Maria Guarnaccia +4 more
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Mosaic Segmental and Whole-Chromosome Upd(11)mat in Silver-Russell Syndrome [PDF]
, 2021 Laura Pignata +8 more
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