المؤلفون: Mariana A. RYZNYCHUK, Mariana I. KRYVCHANSKA, Irina V. LASTIVKA, Tatiana V. KHMARA, Valentyna A. GONCHARENKO

المصدر: Archives of the Balkan Medical Union, Vol 53, Iss 2, Pp 252-258 (2018)

مصطلحات موضوعية: Werdnig-Hoffmann disease, spinal muscular atrophy, SMN1 and SMN2 gene, children, Medicine, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: http://umbalk.org/wp-content/uploads/2018/06/12.Spinal-muscular-atrophy-werdnig%E2%80%91hoffmann-atrophydisease.pdf; https://doaj.org/toc/1584-9244; https://doaj.org/toc/2558-815X

URL الوصول: https://doaj.org/article/b80586b9f9e04049a088a05adb0c291c

المؤلفون: Strunk, Annuska, Abbes, Andre, Stuitje, Antoine R., Hettinga, Chris, Sepers, Eline M., Snetselaar, Reinier, Schouten, Jan, Asselman, Fay-Lynn, Cuppen, Inge, Lemmink, Henny, van der Pol, W. Ludo, Engel, Henk

المصدر: Strunk , A , Abbes , A , Stuitje , A R , Hettinga , C , Sepers , E M , Snetselaar , R , Schouten , J , Asselman , F-L , Cuppen , I , Lemmink , H , van der Pol , W L & Engel , H 2019 , ' Validation of a Fast, Robust, Inexpensive, Two-Tiered Neonatal Screening Test algorithm on Dried Blood Spots for Spinal Muscular Atrophy ' , International journal of neonatal screening , vol. 5 , no. 2 , 21 . https://doi.org/10.3390/ijns5020021

مصطلحات موضوعية: newborn screening, SMA, melting curve, two-tiered testing, copy numbers SMN1 and SMN2 gene, SINGLE NUCLEOTIDE, SMN1, NUSINERSEN

وصف الملف: application/pdf

الاتاحة: https://hdl.handle.net/11370/f0585901-f42a-41e1-acf0-347c3a05a80e
https://research.rug.nl/en/publications/f0585901-f42a-41e1-acf0-347c3a05a80e
https://doi.org/10.3390/ijns5020021
https://pure.rug.nl/ws/files/101844743/IJNS_05_00021_v4.pdf

المؤلفون: Annuska Strunk, Jan S. A. G. Schouten, W. Ludo van der Pol, Henny H. Lemmink, Andre P. Abbes, Inge Cuppen, Antoine R. Stuitje, Fay Lynn Asselman, Henk Engel, Chris Hettinga, Reinier Snetselaar, Eline M. Sepers

المصدر: International Journal of Neonatal Screening, 5(2)
International Journal of Neonatal Screening
Volume 5
Issue 2
International Journal of Neonatal Screening, Vol 5, Iss 2, p 21 (2019)
International journal of neonatal screening, 5(2):21. MDPI AG

مصطلحات موضوعية: 0301 basic medicine, Oncology, Newborn screening, medicine.medical_specialty, SMN2 gene, SINGLE NUCLEOTIDE, SMN1, Pediatrics, NUSINERSEN, Melting curve analysis, Article, 03 medical and health sciences, Exon, 0302 clinical medicine, melting curve, two-tiered testing, copy numbers SMN1 and SMN2 gene, Immunology and Microbiology (miscellaneous), Internal medicine, copy numbers SMN1 and SMN2 gene, Obstetrics and Gynaecology, medicine, Multiplex ligation-dependent probe amplification, SMA, Pediatrics, Perinatology, and Child Health, business.industry, lcsh:RJ1-570, Two-tiered testing, Obstetrics and Gynecology, lcsh:Pediatrics, Spinal muscular atrophy, medicine.disease, Perinatology, nervous system diseases, and Child Health, 030104 developmental biology, Melting curve, Pediatrics, Perinatology and Child Health, Copy numbers SMN1, Nusinersen, business, 030217 neurology & neurosurgery

وصف الملف: image/pdf; application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::34deb54251797cbe73fcfd540fb7ecae
https://dspace.library.uu.nl/handle/1874/388440

المؤلفون: Ryznychuk, M., Kryvchanska, M., Lastivka, I., Khmara, T., Goncharenko, V.A.

مصطلحات موضوعية: Werdnig-Hoffmann disease, spinal muscular atrophy, SMN1 and SMN2 gene, children

وصف الملف: application/pdf

Relation: vol. 53, no. 2;pp. 14-20; http://dspace.bsmu.edu.ua:8080/xmlui/handle/123456789/16131

الاتاحة: http://dspace.bsmu.edu.ua:8080/xmlui/handle/123456789/16131