A novel mutation in GJA8 associated with autosomal dominant congenital cataract in a family of Indian origin [PDF]
Purpose To identify the underlying genetic defect in a four-generation family of Chinese origin with autosomal dominant congenital cataract-microcornea syndrome (CCMC).
Hennies, Hans C. +5 more
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Gillespiе syndrome, caused by previously undescribed mutation in the gene ITPR1
Gillespie syndrome is one of the rare monogenic syndromes characterized by a combination of congenital muscular hypotonia, delayed psychomotor and speech development, ataxia and hypoplasia of the iris.
I. V. Sharkova +3 more
doaj +1 more source
Between mythos and melos [PDF]
Стаття є спробою проартикулювати деякі сторони множинної проблематики феноменів міфологічності музики та музичності міфу; її присвячено аналізові психологічних закономірностей процесів, що об'єднують ці культурні феномени.
Gutsol, S. +3 more
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Mirrors and Metarealists: The Poetry of Ol'ga Sedakova and Ivan Zhdanov [PDF]
Ol´ga Sedakova and Ivan Zhdanov, two prominent contemporary metarealist poets, depart from traditional mirror poems’ reliance on straightforward reflection or description.
Sandler, Stephanie
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A Single Dose of PEG-Asparaginase at the Beginning of Induction Not Only Accelerates MRD Clearance but Also Improves Long-Term Outcome in Children with B-Lineage ALL. [PDF]
Popov A +19 more
europepmc +1 more source
Explorations in the Avantgarde. Review of: Георгий Левинтон. Статьи о поэзии русского авангарда (Slavica Helsingiensia 51). Helsinki: Department of Modern Languages, 2017. 275 pp. [PDF]
The present review addresses a recent book by Georgy Levinton Stat’i o poezii russkogo avangarda (Articles on the Poetry of the Russian Avantgarde), published in 2017, in the well-known book series Slavica Helsingiensia.Keywords: Russian Avantgarde ...
Baran, Henryk
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Relevance. Summer savory (Satureja hortensis L.) is an annual herbaceous plant whose essential oil and extracts are used in medicine, perfumery and the food industry.Methods.
D. A. Khlebnikova +3 more
doaj +1 more source
Redox-Activation of Neutrophils Induced by Pericardium Scaffolds. [PDF]
Vlasova II +7 more
europepmc +1 more source
Diagnosis of actinic keratosis by dermatoscopy
Introduction: Actinic keratosis (AK) is a local introepidermal atypia of keratinocytes, formed as a result of intense and prolonged exposure to sunlight. AK lesions located on exposed areas of skin, mostly on the face, in this regard, a more relevant non-
A. N. Khlebnikova +3 more
doaj +1 more source
Attention and memory after COVID-19 as measured by neuropsychological tests: Systematic review and meta-analysis. [PDF]
Velichkovsky BB +4 more
europepmc +1 more source

