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Published in 2022 at "IEEE Access"
DOI: 10.1109/access.2022.3218160
Abstract: Many patients with genetic syndromes have special facial features, which boast significant potential value for clinical diagnosis. Deep learning and computer vision technology can be employed to diagnose genetic diseases by analyzing facial features of…
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Keywords:
genetic syndromes;
genetic diseases;
multiple genetic;
framework ... See more keywords
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Published in 2020 at "Circulation"
DOI: 10.1161/circ.142.suppl_3.16828
Abstract: Background: Individuals with genetic syndromes can manifest both congenital heart disease (CHD) and cancer due to possible common underlying pathways. However, reliable risk estimates of hematopoietic cancer (HC) among children with CHD based on large…
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Keywords:
genetic syndromes;
congenital heart;
cancer;
risk ... See more keywords
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Published in 2018 at "Orphanet Journal of Rare Diseases"
DOI: 10.1186/s13023-018-0924-1
Abstract: BackgroundIt is well documented that mothers of children with intellectual disabilities or autism experience elevated stress, with mental health compromised. However, comparatively little is known about mothers of children with rare genetic syndromes. This study…
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Keywords:
methodology;
genetic syndromes;
mothers children;
children autism ... See more keywords
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Published in 2022 at "Orvosi hetilap"
DOI: 10.1556/650.2022.32500
Abstract: INTRODUCTION The majority of facial clefts are isolated developmental anomalies. In a minority of the cases, however, facial clefts may occur as part of particular genetic syndromes. OBJECTIVE We aimed to analyse the treatment of…
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Keywords:
genetic syndromes;
jpadhasad kkal;
kkal rsult;
ajak jpadhasad ... See more keywords
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Published in 2021 at "Genes"
DOI: 10.3390/genes12020222
Abstract: Autoimmune thyroid diseases (AITDs), including Hashimoto’s thyroiditis (HT) and Graves’ disease (GD), are the most common cause of acquired thyroid disorder during childhood and adolescence. Our purpose was to assess the main features of AITDs…
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Keywords:
disease genetic;
genetic syndromes;
thyroiditis graves;
hashimoto thyroiditis ... See more keywords
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1
Published in 2021 at "Genes"
DOI: 10.3390/genes12020268
Abstract: Within immune system-related diseases, autoimmunity has always represented a field of great interest, although many aspects remain poorly understood even today. Genetic syndromes associated with immunity disorders are common and represent an interesting model for…
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Keywords:
genetic syndromes;
etiology;
autoimmunity;
autoimmunity genetic ... See more keywords
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Published in 2022 at "Genes"
DOI: 10.3390/genes13040671
Abstract: Our study reviewed abnormalities in spontaneous, as well as event-related, brain activity in syndromes with a known genetic underpinning that are associated with autistic symptomatology. Based on behavioral and neurophysiological evidence, we tentatively subdivided the…
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Keywords:
genetic syndromes;
behavioral evidence;
evidence hyper;
electrophysiological behavioral ... See more keywords