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Adrenal Disorders and the Paediatric Brain: Pathophysiological Considerations and Clinical Implications
Published 2014-01-01Get full text
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82
Rare Somatic MEN1 Gene Pathogenic Variant in a Patient Affected by Atypical Parathyroid Adenoma
Published 2020-01-01“…We suggest that MEN1 gene could be an underestimate genetic determinant of these rare histological entities, and we highlight the utility of a complete genetic screening protocol, by the use of next-generation sequencing technology in such undetermined clinical cases with no frank clinical presentation.…”
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83
Differential Dynamics of ATR-Mediated Checkpoint Regulators
Published 2010-01-01Get full text
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84
Gain in 1q is a Common Abnormality in Phyllodes Tumours of the Breast
Published 2003-01-01“…We studied DNA copy number changes by CGH and allelic imbalance (AI) on 3p by LOH analysis on 22 phyllodes tumours (PT) of the breast in order to gain insight into the genetic basis of tumour progression in PT. Copy number changes were observed in 14 cases (63%). …”
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85
The Properties of Red Blood Cells from Patients Heterozygous for HbS and HbC (HbSC Genotype)
Published 2011-01-01Get full text
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86
Left-Right Brain-Wide Asymmetry of Neuroanatomy in the Mouse Brain
Published 2025-02-01Get full text
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87
X-Linked Autism Type 9 Caused by a Hemizygote Pathogenic Variant in the TMLHE Gene: Etiological Diagnosis in an Adult Male with Moderate Intellectual Disability
Published 2025-01-01“…Lack of TMLH enzyme activity is associated with developmental delay and autistic behaviours described as X-linked recessive autism, type 6 (OMIM#300872).Patient and Methods: Here, an institutionalized adult male patient with intellectual disability, autism, and challenging behaviours is presented in whom genetic analysis disclosed a novel pathogenic variant in the TMLHE gene. …”
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Evidence for the communicative function of human-directed gazing in 6- to 7-week-old dog puppies
Published 2024-09-01“…They appear to have a genetic preparedness to communicate with humans via gaze alternations early in ontogeny, but they may need close contact with humans for this ability to emerge, highlighting the interactive effects of domestication and environmental factors on behavioural development in dogs.…”
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89
Prader-Willi Syndrome: Clinical Aspects
Published 2012-01-01“…Prader-Willi Syndrome (PWS) is a complex multisystem genetic disorder that shows great variability, with changing clinical features during a patient’s life. …”
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Environmental Factors Promoting Neural Plasticity: Insights from Animal and Human Studies
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Alleviating the public health burden of hypertension: debating precision prevention as a possible solution
Published 2024-12-01“…Precision prevention, a tailored health intervention approach utilising individual and population-specific factors – genetic, environmental, and social determinants – offers a potential alternative. …”
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Addressing challenges in vector control: a review of current strategies and the imperative for novel tools in India’s combat against vector-borne diseases
Published 2024-07-01“…However, these methods are increasingly becoming less effective due to several reasons such as insecticide resistance, outdoor biting, behavioural changes in vectors for biting and resting, climate change, movement of population, vector incursion to newer areas and others. …”
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Ensuring ethical animal welfare research: Are more ethics review committees the solution?
Published 2023-08-01Get full text
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Precision livestock farming applied to the dairy sector: 50 years of history with a text mining and topic analysis approach
Published 2025-03-01“…The global dairy industry has been revolutionized by advancements in genetics, milking technology, nutrition, and farm management, leading to increased milk production per cow and a substantial rise in total annual milk output. …”
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Huntington Disease Health Related Quality of Life, Function and Well Being: The Patient’s Perspective
Published 2024-10-01“…Patients aged ≥ 18 years, genetically HD diagnosed [with a diagnostic confidence level score of 4, and an Independence Scale (IS) score ≥ 70] were included. …”
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