Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Lisanne Wisse"'
Autor:
Ferdy K. Cayami, Lauria Claeys, Ruben de Ruiter, Bernard J. Smilde, Lisanne Wisse, Natalija Bogunovic, Elise Riesebos, Lyra Eken, Irsan Kooi, Erik A. Sistermans, Nathalie Bravenboer, Gerard Pals, Sultana M. H. Faradz, Daoud Sie, E. Marelise W. Eekhoff, Dimitra Micha
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-14 (2022)
Abstract Inherited bone disorders account for about 10% of documented Mendelian disorders and are associated with high financial burden. Their study requires osteoblasts which play a critical role in regulating the development and maintenance of bone
Externí odkaz:
https://doaj.org/article/ec27bfcaec5d48d0b6b4702e67ab9e61
Autor:
Gerard Pals, Silvia Storoni, Lauria Claeys, Lisanne Wisse, Dimitra Micha, Alessandra Maugeri, Nathalie Bravenboer, Mariet W. Elting, Marelise Eekhoff
Publikováno v:
Claeys, L, Storoni, S, Eekhoff, M, Elting, M, Wisse, L, Pals, G, Bravenboer, N, Maugeri, A & Micha, D 2021, ' Collagen transport and related pathways in Osteogenesis Imperfecta ', Human Genetics, vol. 140, no. 8, pp. 1121-1141 . https://doi.org/10.1007/s00439-021-02302-2
Human Genetics
Human Genetics
Osteogenesis Imperfecta (OI) comprises a heterogeneous group of patients who share bone fragility and deformities as the main characteristics, albeit with different degrees of severity. Phenotypic variation also exists in other connective tissue aspe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::43425ef63d37ccce569b2f78bc784094
https://doi.org/10.1007/s00439-021-02302-2
https://doi.org/10.1007/s00439-021-02302-2
Autor:
Lidiia Zhytnik, Binh Ho Duy, Marelise Eekhoff, Lisanne Wisse, Gerard Pals, Ene Reimann, Sulev Kõks, Aare Märtson, Alessandra Maugeri, Katre Maasalu, Dimitra Micha
Publikováno v:
Genes; Volume 13; Issue 3; Pages: 407
Genes, 13(3):407. Multidisciplinary Digital Publishing Institute (MDPI)
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/genes13030407
Genes, 13(3):407. Multidisciplinary Digital Publishing Institute (MDPI)
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/genes13030407
Osteogenesis imperfecta (OI) is a syndromic disorder of bone fragility with high variation in its clinical presentation. Equally variable is molecular aetiology; recessive forms are caused by approximately 20 different genes, many of which are direct
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::93f3ae3dfe175e446c1179eb32a98beb