المؤلفون: Storoni, Silvia, Celli, Luca, Zhytnik, Lidiia, Maasalu, Katre, Märtson, Aare, Kõks, Sulev, Khmyzov, Sergey, Pashenko, Andrei, Maugeri, Alessandra, Zambrano, Anna, Celli, Mauro, Eekhoff, Elisabeth M. W., Micha, Dimitra

المصدر: Storoni , S , Celli , L , Zhytnik , L , Maasalu , K , Märtson , A , Kõks , S , Khmyzov , S , Pashenko , A , Maugeri , A , Zambrano , A , Celli , M , Eekhoff , E M W & Micha , D 2023 , ' Novel pathogenic variants in SPARC as cause of osteogenesis imperfecta : Two case reports ' , European Journal of Medical Genetics , vol. 66 , no. 11 , 104857 . https://doi.org/10.1016/j.ejmg.2023.104857Test

العلاقة: https://research.vumc.nl/en/publications/88a5c3ae-d6d2-40d2-8ff3-724753fe7be6Test

الإتاحة: https://doi.org/10.1016/j.ejmg.2023.104857Test
https://research.vumc.nl/en/publications/88a5c3ae-d6d2-40d2-8ff3-724753fe7be6Test
http://www.scopus.com/inward/record.url?scp=85172463731&partnerID=8YFLogxKTest

المؤلفون: Zhytnik, Lidiia, Duy, Binh Ho, Eekhoff, Marelise, Wisse, Lisanne, Pals, Gerard, Reimann, Ene, Kõks, Sulev, Märtson, Aare, Maugeri, Alessandra, Maasalu, Katre, Micha, Dimitra

المصدر: Zhytnik , L , Duy , B H , Eekhoff , M , Wisse , L , Pals , G , Reimann , E , Kõks , S , Märtson , A , Maugeri , A , Maasalu , K & Micha , D 2022 , ' Phenotypic Variation in Vietnamese Osteogenesis Imperfecta Patients Sharing a Recessive P3H1 Pathogenic Variant ' , Genes , vol. 13 , no. 3 , 407 . https://doi.org/10.3390/genes13030407Test

العلاقة: https://research.vumc.nl/en/publications/7b39987a-5282-41b7-9429-db004c5ae562Test

الإتاحة: https://doi.org/10.3390/genes13030407Test
https://research.vumc.nl/en/publications/7b39987a-5282-41b7-9429-db004c5ae562Test
http://www.scopus.com/inward/record.url?scp=85125653278&partnerID=8YFLogxKTest

المؤلفون: Karachalios, Theofilos, Maasalu, Katre, Felländer-Tsai, Li

المصدر: EFORT Open Reviews ; volume 7, issue 2, page 122-128 ; ISSN 2058-5241

مصطلحات موضوعية: Orthopedics and Sports Medicine, Surgery

الإتاحة: https://doi.org/10.1530/eor-21-0120Test
https://eor.bioscientifica.com/view/journals/eor/7/2/EOR-21-0120.xmlTest
https://eor.bioscientifica.com/downloadpdf/journals/eor/7/2/EOR-21-0120.xmlTest

المؤلفون: Zhytnik, Lidiia, Maasalu, Katre, Reimand, Tiia, Duy, Binh Ho, Kõks, Sulev, Märtson, Aare

المصدر: Clinical and Translational Science ; volume 13, issue 5, page 960-971 ; ISSN 1752-8054 1752-8062

الإتاحة: https://doi.org/10.1111/cts.12783Test

المؤلفون: Zhytnik, Lidiia, Simm, Kadri, Salumets, Andres, Peters, Maire, Märtson, Aare, Maasalu, Katre

المساهمون: Estonian Ministry of Education and Research, Enterprise Estonia, European Union’s Horizon 2020

المصدر: Orphanet Journal of Rare Diseases ; volume 15, issue 1 ; ISSN 1750-1172

مصطلحات موضوعية: Pharmacology (medical), Genetics (clinical), General Medicine

الإتاحة: https://doi.org/10.1186/s13023-020-01404-wTest

المؤلفون: Zhytnik, Lidiia, Maasalu, Katre, Reimann, Ene, Märtson, Aare, Kõks, Sulev

المساهمون: Estonian Ministry of Education and Research

المصدر: BMC Medical Genomics ; volume 13, issue 1 ; ISSN 1755-8794

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1186/s12920-020-00825-7Test

المؤلفون: Rothzerg, Emel, Ho, Xuan D, Xu, Jiake, Wood, David, Märtson, Aare, Maasalu, Katre, Kõks, Sulev

المساهمون: the Estonian Research Agency and by the European Union’s Seventh Framework Programme

المصدر: Experimental Biology and Medicine ; volume 245, issue 16, page 1437-1443 ; ISSN 1535-3702 1535-3699

مصطلحات موضوعية: General Biochemistry, Genetics and Molecular Biology

الإتاحة: https://doi.org/10.1177/1535370220949139Test

المؤلفون: Zhytnik, Lidiia, Maasalu, Katre, Duy, Ho Binh, Pashenko, Andrey, Khmyzov, Sergey, Reimann, Ene, Prans, Ele, Kõks, Sulev, Märtson, Aare

مصطلحات موضوعية: bone fragility, collagen, de novo, osteogenesis imperfecta, Sanger sequencing

وصف الملف: application/pdf

العلاقة: info:eu-repo/grantAgreement/EC/H2020/668989///TransGeno; Molecular Genetics & Genomic Medicine;7; http://hdl.handle.net/10062/72141Test

الإتاحة: http://hdl.handle.net/10062/72141Test

المؤلفون: Zhytnik, Lidiia, Maasalu, Katre, Pashenko, Andrey, Khmyzov, Sergey, Reimann, Ene, Prans, Ele, Kõks, Sulev, Märtson, Aare

المصدر: Frontiers in Genetics ; volume 10 ; ISSN 1664-8021

الإتاحة: https://doi.org/10.3389/fgene.2019.00722Test

المؤلفون: Kruusamäe, Helena, Maasalu, Katre, Jürimäe, Jaak

المصدر: Medical Problems of Performing Artists, 2016 Mar 01. 31(1), 25-28.

الوصول الحر: https://www.jstor.org/stable/48714484Test