المؤلفون: Vuori, Matti A., Kiiskinen, Tuomo, Pitkänen, Niina, Kurki, Samu, Laivuori, Hannele, Laitinen, Tarja, Mäntylahti, Sampo, Palotie, Aarno, FinnGen, Niiranen, Teemu J.

المساهمون: Tampere University, Clinical Medicine, RDI, NASY, Obstetrics and gynaecology

مصطلحات موضوعية: 3121 Internal medicine, 3123 Gynaecology and paediatrics

وصف الملف: fulltext

Relation: 208; 16; https://trepo.tuni.fi/handle/10024/151476

الاتاحة: https://trepo.tuni.fi/handle/10024/151476
https://doi.org/10.1186/s13104-023-06469-x

المؤلفون: Pehrsson, Minja, Heikkinen, Hanna, Wartiovaara-Kautto, Ulla, Mäntylahti, Sampo, Bäckström, Pia, Lassenius, Mariann I., Uusi-Rauva, Kristiina, Carpen, Olli, Elomaa, Kaisa

المساهمون: HUSLAB, Helsinki University Hospital Area, University of Helsinki, Bio Bank, Institute of Biotechnology, HUS Comprehensive Cancer Center, Clinicum, Hematologian yksikkö, Precision Cancer Pathology, Department of Pathology, Olli Mikael Carpen / Principal Investigator

مصطلحات موضوعية: Biobank study, Electronic health record data, Small nucleotide polymorphism chip genotype data, Gaucher disease, Gaucher earlier diagnosis consensus point-scoring system, GBA, AWARENESS, NEED, Biomedicine, Genetics, developmental biology, physiology

وصف الملف: application/pdf

Relation: Pehrsson , M , Heikkinen , H , Wartiovaara-Kautto , U , Mäntylahti , S , Bäckström , P , Lassenius , M I , Uusi-Rauva , K , Carpen , O & Elomaa , K 2022 , ' Screening for potential undiagnosed Gaucher disease patients : Utilisation of the Gaucher earlier diagnosis consensus point-scoring system (GED-C PSS) in conjunction with electronic health record data, tissue specimens, and small nucleotide polymorphism (SNP) genotype data available in Finnish biobanks ' , Molecular Genetics and Metabolism Reports , vol. 33 , 100911 . https://doi.org/10.1016/j.ymgmr.2022.100911; http://hdl.handle.net/10138/350016; 460d4646-f26d-4427-aa3f-9da87aa71803; 000862796800001

الاتاحة: http://hdl.handle.net/10138/350016

المؤلفون: Mäntylahti, Sampo

المساهمون: University of Helsinki, Faculty of Biological and Environmental Sciences, Department of Biosciences, Biotekniikka, Helsingin yliopisto, bio- ja ympäristötieteellinen tiedekunta, biotieteiden laitos, Helsingfors universitet, bio- och miljövetenskapliga fakulteten, biovetenskapliga institutionen, Koźmiński, Wiktor, Permi, Perttu

مصطلحات موضوعية: biotekniikka

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______1593::7dc32fd26723f53ca974b6bf514f23b6
http://hdl.handle.net/10138/45414

المؤلفون: Mäntylahti, Sampo, Hellman, Maarit, Permi, Perttu

المصدر: Journal of Biomolecular NMR ; volume 49, issue 2, page 99-109 ; ISSN 0925-2738 1573-5001

الاتاحة: http://dx.doi.org/10.1007/s10858-011-9470-z
http://link.springer.com/content/pdf/10.1007/s10858-011-9470-z.pdf
http://link.springer.com/article/10.1007/s10858-011-9470-z/fulltext.html
http://link.springer.com/content/pdf/10.1007/s10858-011-9470-z

المؤلفون: Mäntylahti, Sampo, Koskela, Outi, Jiang, Pengju, Permi, Perttu

المصدر: Journal of Biomolecular NMR ; volume 47, issue 3, page 183-194 ; ISSN 0925-2738 1573-5001

الاتاحة: http://dx.doi.org/10.1007/s10858-010-9422-z
http://link.springer.com/content/pdf/10.1007/s10858-010-9422-z.pdf
http://link.springer.com/article/10.1007/s10858-010-9422-z/fulltext.html
http://link.springer.com/content/pdf/10.1007/s10858-010-9422-z

المؤلفون: Mäntylahti, Sampo, Aitio, Olli, Hellman, Maarit, Permi, Perttu

المصدر: Journal of Biomolecular NMR ; volume 47, issue 3, page 171-181 ; ISSN 0925-2738 1573-5001

الاتاحة: http://dx.doi.org/10.1007/s10858-010-9421-0
http://link.springer.com/content/pdf/10.1007/s10858-010-9421-0.pdf
http://link.springer.com/article/10.1007/s10858-010-9421-0/fulltext.html
http://link.springer.com/content/pdf/10.1007/s10858-010-9421-0

المؤلفون: Mäntylahti, Sampo, Tossavainen, Helena, Hellman, Maarit, Permi, Perttu

المصدر: Journal of Biomolecular NMR ; volume 45, issue 3, page 301-310 ; ISSN 0925-2738 1573-5001

الاتاحة: http://dx.doi.org/10.1007/s10858-009-9373-4
http://link.springer.com/content/pdf/10.1007/s10858-009-9373-4.pdf
http://link.springer.com/article/10.1007/s10858-009-9373-4/fulltext.html
http://link.springer.com/content/pdf/10.1007/s10858-009-9373-4

المؤلفون: Helsingin yliopisto, bio- ja ympäristötieteellinen tiedekunta, biotieteiden laitos, Helsingfors universitet, bio- och miljövetenskapliga fakulteten, biovetenskapliga institutionen, University of Helsinki, Faculty of Biological and Environmental Sciences, Department of Biosciences, Biotekniikka, Mäntylahti, Sampo

مصطلحات الفهرس: biotekniikka, Väitöskirja (artikkeli), Doctoral dissertation (article-based), Doktorsavhandling (sammanläggning), Text

URL: http://hdl.handle.net/10138/45414
URN:ISBN:978-952-10-9951-9
Helsinki: 2014, Dissertationes biocentri viikki universitatis helsingiensis. 1799-7372

المؤلفون: Mäntylahti, Sampo, Tossavainen, Helena, Hellman, Maarit, Permi, Perttu

المصدر: Journal of Biomolecular NMR; Nov2009, Vol. 45 Issue 3, p301-310, 10p, 1 Diagram, 4 Graphs