Journal article |
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Awareness Based on a Case Series of Seven Patients". Acta Médica Portuguesa (2023): https://doi.org/10.20344/amp.19687.
10.20344/amp.19687
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Whole-Genome Sequencing in Clinical Genetics: A Novel Disruptive Structural Rearrangement Identified in the Dystrophin Gene
(DMD)". International Journal of Molecular Sciences (2021): https://www.mdpi.com/1422-0067/23/1/59.
10.3390/ijms23010059
- Oliveira, Márcia. "Characterization of CCDC103 expression profiles: further insights in primary ciliary dyskinesia and in
human reproduction.". Journal of assisted reproduction and genetics (2019): https://doi.org/10.1007/s10815-019-01509-7.
10.1007/s10815-019-01509-7
- Oliveira, Márcia. "Short-term complications after renal transplantation in AFibE526V (p.Glu545Val) amyloidosis". Amyloid
(2019): http://dx.doi.org/10.1080/13506129.2019.1583196.
10.1080/13506129.2019.1583196
- Oliveira, Márcia. "Haplotype analysis of newly diagnosed Portuguese and Brazilian families with fibrinogen amyloidosis caused
by the FGA p.Glu545Val variant.". Amyloid : the international journal of experimental and clinical investigation : the
official journal of the International Society of Amyloidosis (2019): https://doi.org/10.1080/13506129.2019.1582500.
10.1080/13506129.2019.1582500
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10.1002/humu.23599
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sequencing approach improves the genetic characterization of congenital myopathies". Journal of Human Genetics 61 6
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10.1038/jhg.2016.2
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10.3233/JND-140031
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10.1016/j.nmd.2014.01.004
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10.1038/ejhg.2012.201
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10.1111/j.1399-0004.2008.01068.x
- Pinto, M.P.; Grou, C.P.; Alencastre, I.S.; Oliveira, M.E.; Sá-Miranda, C.; Fransen, M.; Azevedo, J.E.. "The import competence
of a peroxisomal membrane protein is determined by Pex19p before the docking step". Journal of Biological Chemistry
281 45 (2006): 34492-34502. http://www.scopus.com/inward/record.url?eid=2-s2.0-33845955999&partnerID=MN8TOARS.
10.1074/jbc.M607183200
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membrane". Cell Biochemistry and Biophysics 41 3 (2004): 451-468. http://www.scopus.com/inward/record.url?eid=2-s2.0-8744250389&partnerID=MN8TOARS.
10.1385/CBB:41:3:451
- Oliveira, M.E.; Gouveia, A.M.; Pinto, R.A.; Sá-Miranda, C.; Azevedo, J.E.. "The energetics of Pex5p-mediated peroxisomal protein
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10.1074/jbc.M305089200
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10.1074/jbc.C200650200
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10.1016/S0005-2728(03)00057-4
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cycling receptor, Pex5p, using a cell-free in vitro import system". Journal of Biological Chemistry 278 1 (2003): 226-232.
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10.1074/jbc.M209498200
- Oliveira, M.E.M.; Reguenga, C.; Gouveia, A.M.M.; Guimarães, C.P.; Schliebs, W.; Kunau, W.-H.; Silva, M.T.; Sá-Miranda, C.;
Azevedo, J.E.. "Mammalian Pex14p: Membrane topology and characterisation of the Pex14p-Pex14p interaction". Biochimica
et Biophysica Acta - Biomembranes 1567 SUPPL. (2002): 13-22. http://www.scopus.com/inward/record.url?eid=2-s2.0-0037164712&partnerID=MN8TOARS.
10.1016/S0005-2736(02)00635-1
- Reguenga, C.; Oliveira, M.E.M.; Gouveia, A.M.M.; Sá-Miranda, C.; Azevedo, J.E.. "Characterization of the mammalian peroxisomal
import machinery. Pex2p, Pex5p, Pex12p, and Pex14p are subunits of the same protein assembly". Journal of Biological Chemistry
276 32 (2001): 29935-29942. http://www.scopus.com/inward/record.url?eid=2-s2.0-0035839442&partnerID=MN8TOARS.
10.1074/jbc.M104114200
- Gouveia, A.M.M.; Reguenga, C.; Oliveira, M.E.M.; Sa-Miranda, C.; Azevedo, J.E.. "Characterization of peroxisomal Pex5p from
rat liver: Pex5p in the Pex5p-Pex14p membrane complex is a transmembrane protein". Journal of Biological Chemistry
275 42 (2000): 32444-32451. http://www.scopus.com/inward/record.url?eid=2-s2.0-0034693260&partnerID=MN8TOARS.
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intrinsic membrane protein from mammalian peroxisomes". Biochimica et Biophysica Acta - Gene Structure and Expression
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10.1016/S0167-4781(99)00061-5
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