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Phenotypic Variation in Two Siblings Affected with Shwachman-Diamond Syndrome: The Use of Expert Variant Interpreter (eVai) Suggests Clinical Relevance of a Variant in the KMT2A Ge...
Published 2022-07-01“…Human Phenotype Ontology (HPO) terms were defined for each patient, and the WES data were analyzed using the eVai and DIVAs platforms. Results. In UPN43, we found and confirmed, using Sanger sequencing, a novel de novo variant (c.10663G > A, p.Gly3555Ser) in the <i>KMT2A</i> gene that is associated with autosomal-dominant Wiedemann–Steiner Syndrome. …”
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Enhancing aquaponics management with IoT-based Predictive Analytics for efficient information utilization
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Reversible shifts between interstitial and epibenthic habitats in evolutionary history: Molecular phylogeny of the marine flatworm family Boniniidae (Platyhelminthes: Polycladida:...
Published 2022-01-01“…Molecular phylogenetic analyses based on the partial 18S and 28S rDNA sequences of the new Boninia species and four other congeners, for which molecular sequences were available in public databases [Boninia antillara (epibenthic), Boninia divae (epibenthic), Boninia neotethydis (interstitial), and an unidentified Boninia sp. …”
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Computed Tomographic Assessment of Pituitary Gland Dimensions in Domestic Short-Haired Cats
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A rare case of Crigler–Najjar syndrome type 2: A case report and literature review
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Redaktora sleja
Published 2023-09-01“…Otrs publicētais vēstures avots ir divas 18. gadsimta vēstules, kuras baziliāņu mūki no Jēkabpils rakstījuši Varakļānu muižas īpašniekam Mihailam fon der Borham. …”
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CpG DNA methylation changes during epididymal sperm maturation in bulls
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Equine Suture Exostosis: A Review of Cases from a Multicenter Retrospective Study
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Correlation of Body Mass Index and Oxygen Saturation in Chronic Obstructive Pulmonary Disease Patients at a Tertiary Care Center in Nepal: A Cross-Sectional Study
Published 2023-07-01“…Prativa Sangroula,1,* Sandip Ghimire,1,* Brajendra Srivastava,2 Divas Adhikari,3 Kiran Dhonju,4 Amit Shrestha,5 Sapana Ghimire6 1Department of Internal Medicine, Lumbini Medical College and Teaching Hospital, Palpa, Lumbini, Nepal; 2Department of Internal Medicine, Nepalese Army Institute of Health Sciences, Kathmandu, Bagmati, Nepal; 3Department of Emergency Medicine, Bharatpur Hospital, Chitwan, Bagmati, Nepal; 4Department of Internal Medicine, Sukraraj Tropical and Infectious Disease Hospital, Kathmandu, Bagmati, Nepal; 5Department of Psychiatry, Patan Academy of Health Sciences, Lalitpur, Bagmati, Nepal; 6Department of Pathology, Shahid Dharma Bhakta National Transplant Centre, Bhaktapur, Bagmati, Nepal*These authors contributed equally to this workCorrespondence: Sandip Ghimire, Department of Internal Medicine, Lumbini Medical College and Teaching Hospital, Palpa, Lumbini, Nepal, Tel +9609369402 ; +9779851119799, Email docsandipghimire@gmail.comPurpose: Chronic obstructive pulmonary disease (COPD) is a major cause of mortality and morbidity worldwide. …”
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Redaktora sleja
Published 2018-04-01“…Prominenti recenzenti vērtējuši divas nozīmīgas grāmatas. Vēstures doktors Jānis Šiliņš analizējis profesora Aivara Strangas monogrāfiju par Kārļa Ulmaņa autoritārā režīma ekonomisko politiku. …”
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Latviešu politisko partiju veidošanās un loma Latvijas valsts tapšanā un sākuma gados (1917–1922)
Published 2016-10-01“….–19. novembrī Valkā) darba kārtības jautājumiem kā galvenie referenti uzstājās partiju pārstāvji (Dr. Pēteris Zālīts un divas reizes Kristaps Bahmanis), liecināja par padomes uzticību viņu kompetencei. …”
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