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101
Structure and origin of Tuvan gene pool according to autosome SNP and Y-chromosome haplogroups
Published 2023-03-01Subjects: Get full text
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102
High quality genome assembly of the brown hare (Lepus europaeus) with chromosome-level scaffolding
Published 2024-03-01“…The chromosomal assembly of the genome also demonstrates that the cell line has not acquired karyotypic changes during culture.…”
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103
Optical genome mapping to decipher the chromosomal aberrations in families seeking for preconception genetic counseling
Published 2025-01-01Subjects: Get full text
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104
MURCS Association with Partial Duplication of the Distal Long Chromosome 5 and Unilateral Ovarian Agenesis
Published 2013-01-01“…Moreover, the performed DNA analysis showed interstitial duplication in chromosome 5 (5q35.1). In the duplicated region, there are genes whose function is not well known. …”
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Chromosome-level genome assembly and annotation of the gynogenetic large-scale loach (Paramisgurnus dabryanus)
Published 2025-01-01“…In this study, we performed PacBio HiFi and Hi-C sequencing on a female (ZW) specimen and assembled the first high-quality chromosome-level genome of the large-scale loach. The assembled genome comprises 24 chromosomes, with a total length of 1.04 Gb, a scaffold N50 of 41.7 Mb, and a BUSCO completeness of 95.8%, including 28,311 protein-coding genes. …”
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107
Genetic history of the Koryaks and Evens of the Magadan region based on Y chromosome polymorphism data
Published 2024-03-01Subjects: “…y chromosome…”
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108
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109
A Chromosome-level genome assembly of the alpine medicinal plant Bergenia purpurascens (Saxifragaceae)
Published 2025-01-01“…In this study, we generated a high-quality genome assembly comprising scaffolds representing the 17 chromosomes, with a total length of 650.70 Mb and a scaffold N50 of 34.19 Mb. …”
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110
Prenatal Diagnosis of a Fetus with Ring Chromosomal 15 by Two- and Three-Dimensional Ultrasonography
Published 2014-01-01“…We report on a prenatal diagnosis of ring chromosome 15 in a fetus with left congenital diaphragmatic hernia (CDH) and severe intrauterine growth restriction (IUGR). …”
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111
A high-quality chromosome-scale genome assembly of the Cherokee rose (Rosa laevigata)
Published 2025-01-01“…In this study, we assembled a high-quality chromosome-scale genome for R. laevigata by combining Illumina, PacBio, and Hi-C data, which has a length of approximately 494.2 Mb with a scaffold N50 of 68.6 Mb. …”
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112
Assessing cell lines with inducible depletion of cohesin and condensins components through analysis of metaphase chromosome morphology
Published 2024-04-01Subjects: Get full text
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113
The comparative analysis of the cytogenetic and morphometric characteristics of some mammals
Published 2025-01-01Subjects: “…chromosome…”
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114
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Exome-First Approach in Fetal Akinesia Reveals Chromosome 1p36 Deletion Syndrome
Published 2019-01-01“…Postnatal whole exome sequencing and subsequent chromosomal microarray identified a 3 Mb deletion of chromosomal region 1p36.33–p36.32. …”
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116
Role of Gene Length in Control of Human Gene Expression: Chromosome-Specific and Tissue-Specific Effects
Published 2021-01-01“…Chromosome studies led to the identification of two chromosome populations that differ in the expression level of short genes. …”
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117
Can mechanistic constraints on recombination reestablishment explain the long-term maintenance of degenerate sex chromosomes?
Published 2024-02-01“…Y and W chromosomes often stop recombining and degenerate. Most work on recombination suppression has focused on the mechanisms favoring recombination arrest in the short term. …”
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118
A Y-chromosome portrait of the population of Jerba (Tunisia) to elucidate its complex demographic history
Published 2005-06-01Subjects: Get full text
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119
Candidate Genes Associated with Delayed Neuropsychomotor Development and Seizures in a Patient with Ring Chromosome 20
Published 2020-01-01“…Ring chromosome 20 (r20) is characterized by intellectual impairment, behavioral disorders, and refractory epilepsy. …”
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120
A Chromosome level assembly of pomegranate (Punica granatum L.) variety grown in arid environment
Published 2025-01-01“…Here, we present a high-quality chromosome-level reference genome using PacBio HiFi long reads. …”
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