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Published in 2023 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.2130
Abstract: The 3q29 microduplication syndrome is a rare genomic disorder characterized by an extremely variable neurodevelopmental phenotype usually involving a genomic region ranging from 1.6 to 1.76 Mb. A small microduplication of 448.8 Kb containing only two…
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Keywords:
syndrome new;
microduplication syndrome;
microduplication;
critical region ... See more keywords
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Published in 2017 at "Clinical immunology"
DOI: 10.1016/j.clim.2017.06.011
Abstract: • This is an introductory piece for he special edition of Clinical Immunology on Sjogren's syndrome.
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Keywords:
paradigms areas;
areas future;
sjogren syndrome;
syndrome new ... See more keywords
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Published in 2022 at "Medicine"
DOI: 10.1097/md.0000000000032324
Abstract: Restless leg syndrome (Restless legs syndrome, RLS) is a common neurological disorder. The pathogenesis of RLS remains unknown, and recent pathophysiological developments have shown the contribution of various genetic markers, neurotransmitter dysfunction, and iron deficiency…
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Keywords:
exploration restless;
legs syndrome;
syndrome new;
restless ... See more keywords
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Published in 2022 at "Internal medicine journal"
DOI: 10.1111/imj.15749
Abstract: Takotsubo syndrome (TS), also known as apical ballooning syndrome is a transient stress-related cardiomyopathy characterised by acute but reversible left ventricular dysfunction. The condition tends to occur in postmenopausal women after a stressful event. At…
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Keywords:
current knowledge;
new zealand;
zealand;
zealand current ... See more keywords
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Published in 2020 at "Nephron"
DOI: 10.1159/000508920
Abstract: Atypical hemolytic uremic syndrome (aHUS) is a rare cause of thrombotic microangiopathy (TMA), characterized by microangiopathic hemolytic anemia, consumptive thrombocytopenia, and multisystem end organ involvement, most commonly affecting the kidney. Diagnosis is clinical, after exclusion…
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Keywords:
atypical hemolytic;
uremic syndrome;
new challenges;
hemolytic uremic ... See more keywords
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Published in 2023 at "Investigacion y Educacion en Enfermeria"
DOI: 10.17533/udea.iee.v41n1e01
Abstract: 1 Nurse, Master’s Student in Nursing. University for International Integration of the Afro-Brazilian Lusophony, Redenção (Brazil). Email:
[email protected]. Corresponding author. 2 Nurse, PhD. Assistant Professor, University for International Integration of the Afro-Brazilian Lusophony, Redenção (Brazil).…
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Keywords:
syndrome new;
covid metabolic;
nursing;
metabolic syndrome ... See more keywords
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Published in 2019 at "Future Science OA"
DOI: 10.2144/fsoa-2019-0075
Abstract: Although a recognized condition, growing teratoma syndrome (GTS) has no guidelines for management, and patients diagnosed with the condition are managed empirically by the most appropriate teams. We report a case of GTS in a…
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Keywords:
insights clinical;
managing growing;
syndrome new;
growing teratoma ... See more keywords
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Published in 2020 at "International Journal of Endocrinology"
DOI: 10.22141/2224-0721.16.1.2020.199129
Abstract: The article deals with the analysis of the literature on the study of the spectrum of therapeutic properties of Potentilla alba preparation, supplemented with selenium and zinc, which is prescribed in addition to standard management…
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Keywords:
thyrotoxicosis syndrome;
clinical opportunities;
thyrotoxicosis;
new clinical ... See more keywords
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Published in 2020 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms21020650
Abstract: Sjögren Syndrome (SS) is an autoimmune disease that affects the exocrine glands, mainly salivary and lacrimal glands [...].
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Keywords:
gren syndrome;
disease gren;
syndrome new;
mechanisms disease ... See more keywords
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Published in 2022 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms23094946
Abstract: High prevalence of both criteria and extra-criteria antiphospholipid antibodies (aPL) has been reported in COVID-19 patients. However, the differences in aPL prevalence decreased when an age-matched control group was included. The association of aPL with…
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Keywords:
covid coagulopathy;
syndrome new;
antibodies antiphospholipid;
antigens antibodies ... See more keywords