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CLN6‐related continuum phenotype caused by aberrant splicing
Published 2025-02-01“…The peculiar genetic pattern may explain the continuum phenotype between late‐infantile and adult forms.…”
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62
Computational Phenotyping of Obstructive Airway Diseases: A Systematic Review
Published 2025-02-01Subjects: Get full text
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63
Two Novel Variants in the ATRX Gene Associated with Variable Phenotypes
Published 2019-01-01“…These two novel variants were associated with variable phenotypes which clinically resembled X-linked mental retardation-hypotonic facies syndrome and Smith-Fineman-Myers syndrome respectively. …”
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64
Periconceptional Undernutrition in Sheep Affects Adult Phenotype Only in Males
Published 2012-01-01“…Brief PCUN has sex-specific effects on adult phenotype, predominantly affecting males, which may contribute to adverse metabolic outcomes.…”
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65
Choosing preferable labels for the Japanese translation of the Human Phenotype Ontology
Published 2020-06-01Subjects: Get full text
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66
Virally-initiated pain states: phenotypes, mechanisms, and future directions
Published 2025-01-01“…Each subheading is accompanied by a list of related issues for study which we think will lead to advances in our understanding of the vexing pain phenotype associated with viral infection.…”
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67
The role of SPINK5 mutation distribution in phenotypes of Netherton syndrome
Published 2025-01-01Subjects: Get full text
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68
Knee phenotypes distribution according to CPAK classification in Turkish population
Published 2024-11-01“…Objective: This study aimed to investigate the distribution of knee phenotypes based on the CPAK classification in healthy nonarthritic subjects and osteoarthritic patients in Türkiye. …”
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69
Phenotype of Peripheral NK Cells in Latent, Active, and Meningeal Tuberculosis
Published 2021-01-01“…Here, we performed a cross-sectional analysis of circulating NK cellCID="C008" value="s" phenotype in a prospective cohort of TBM patients (n=10) using flow cytometry. …”
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70
Oryzalin-induced polyploidy in Vanda limbata (Blume): Phenotypic assessment
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71
Checklist for the Structural Description of the Deep Phenotype in Disorders of Sexual Development
Published 2012-01-01“…This paper addresses the question, how the variations of the deep phenotype in disorders of sex development (DSD) are appropriately described. …”
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Age influences the circulating immune profile in pediatric sepsis
Published 2025-01-01Subjects: Get full text
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74
Clinical phenotypes and associated factors in knee osteoarthritis in an African black population
Published 2025-03-01Subjects: Get full text
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75
Breeding practices of indigenous chickens in the Liban Jawi District of the West Shewa Zone, Ethiopia: A qualitative and quantitative analysis
Published 2025-01-01Subjects: Get full text
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76
Relationship of Circulating Fetuin-A Levels with Body Size and Metabolic Phenotypes
Published 2018-01-01“…This study demonstrates that fetuin-A levels are significantly associated with metabolic health phenotypes, such as MHO and MANW, in Korean adults.…”
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77
Morphometrics and evolution: the challenge of crossing rugged phenotypic landscapes with straight paths
Published 2017-07-01Subjects: Get full text
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78
Chronic wounds and adaptive Pseudomonas aeruginosa: A phenotypic and genotypic characterization
Published 2025-01-01“…Phenotypic and genetic diversity is found in varying prevalence in clinical populations where beneficial adaptations enable the bacteria to avoid recognition and eradication by the host immune system. …”
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79
A girl with intragenic variants in MARS2 and a chondrodysplasia phenotype
Published 2025-03-01“…Conclusion: The skeletal phenotype may be a syndromic component of this disorder associated with MARS2 intragenic variants.…”
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80
Phenotypic Characterization of Circulating CD4+ T Cells in ANCA-Associated Vasculitis
Published 2018-01-01“…In this study, we found that CD4+ T cell phenotype distribution is altered in AAV patients, in line with previously published work. …”
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