Results 11 to 20 of about 632,786 (261)
The Role of Deep Phenotyping of Precision Medicine for Rare Bone Diseases
罕见病研究, 2023 Deep phenotyping is a precise and comprehensive approach used for the precise analysis and comprehensive assessment of multi-system phenotypes of the patients.
LI Guozhuang +5 more
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A De Novo case of autosomal dominant mitochondrial membrane protein‐associated neurodegeneration
Molecular Genetics & Genomic Medicine, 2021 Background Mitochondrial membrane protein‐associated neurodegeneration (MPAN) is a genetic neurodegenerative condition previously thought to be inherited only in an autosomal recessive pattern through biallelic pathogenic variants in C19orf12.
Stuart Fraser +4 more
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Frontiers in Genetics, 2022 Neurodevelopmental disorders including autism spectrum disorder, intellectual disability, and global developmental delay are among the most common indications for referral to clinical genetics evaluation; and clinical genetic testing is indicated for ...
Amelle Shillington +12 more
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iScience, 2023 Summary: By soaking microRNAs (miRNAs), long non-coding RNAs (lncRNAs) have the potential to regulate gene expression. Few methods have been created based on this mechanism to anticipate the lncRNA-gene relationship prediction.
Weidun Xie +7 more
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Case Report: Two New Cases of Chromosome 12q14 Deletions and Review of the Literature
Frontiers in Genetics, 2021 Interstitial deletions on the long arm of chromosome 12 (12q deletions) are rare, and are associated with intellectual disability, developmental delay, failure to thrive and congenital anomalies.
Ruizhi Deng +3 more
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Genetics in clinical oncology [PDF]
The Indian Journal of Pediatrics, 1982 This is the first book to provide a thorough grounding in the applications of genetics to cancer medicine, enabling the clinician to convey to patients and their families an understanding of the genetic nature of cancer, and to provide them with accurate advice.
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Diagnostically relevant facial gestalt information from ordinary photos
eLife, 2014 Craniofacial characteristics are highly informative for clinical geneticists when diagnosing genetic diseases. As a first step towards the high-throughput diagnosis of ultra-rare developmental diseases we introduce an automatic approach that implements ...
Quentin Ferry +6 more
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Diagnostics, 2020 In degenerative adult onset ataxia (AOA), dystonic comorbidity is attributed to one disease continuum. However, in early adult onset ataxia (EOA), the prevalence and pathogenesis of dystonic comorbidity (EOAD+), are still unclear.
Deborah A. Sival +7 more
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Genetics in Clinical Trials [PDF]
, 2009 Clinical trials provide the ‘evidence’ in evidence-based medicine. Despite their cost and complexity, clinical trials save society billions of dollars [1]. Recent advances have enabled genome-wide analyses of single nucleotide polymorphisms in complex diseases. Such analyses require large sample sizes and thus depend on collaborative efforts.
James F, Meschia, Katrina, Gwinn
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Blood Pressure, 2018 Objective: Carotid-femoral pulse wave velocity (cfPWV) was associated with serum parathyroid hormone (PTH) in untreated Chinese. We investigated in the same cohort whether cfPWV, brachial-ankle (baPWV) and heart-brachial (hbPWV) pulse wave velocity (PWV)
Yi-Bang Cheng +8 more
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