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1دورية أكاديمية
المؤلفون: Tatiana Vladimirovna Markova, Vladimir Kenis, Evgeniy Melchenko, Darya Guseva, Darya Osipova, Nailya Galeeva, Tatiana Nagornova, Elena Leonidovna Dadali
المصدر: Molecular Genetics & Genomic Medicine, Vol 10, Iss 5, Pp n/a-n/a (2022)
مصطلحات موضوعية: CTSK gene, pycnodysostosis, skeletal dysplasia, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2324-9269
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2دورية أكاديمية
المؤلفون: Tatyana Markova, Vladimir Kenis, Evgeniy Melchenko, Darya Osipova, Tatyana Nagornova, Anna Orlova, Ekaterina Zakharova, Elena Dadali, Sergey Kutsev
المصدر: Genes, Vol 13, Iss 1, p 137 (2022)
مصطلحات موضوعية: collagenopathy type II, COL2A1 gene, exome sequencing, novel variants, skeletal dysplasia, Genetics, QH426-470
وصف الملف: electronic resource
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3
المؤلفون: Elena Dadali, Tatiana Markova, Darya Osipova
المصدر: Pediatria. Journal named after G.N. Speransky. 101:158-163
مصطلحات موضوعية: Pediatrics, Perinatology and Child Health, sense organs
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::b2274bd7c2036d269ba1c490c679ffcd
https://doi.org/10.24110/0031-403x-2022-101-2-158-163 -
4Clinical and genetic characteristics of COL2A1-associated skeletal dysplasias in 60 Russian patients
المؤلفون: Tatyana Markova, Vladimir Kenis, Evgeniy Melchenko, Darya Osipova, Tatyana Nagornova, Anna Orlova, Ekaterina Zakharova, Elena Dadali
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::391458ce90c4f3bdf4515f966c182bad