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Roche-Martínez, Ana; Ramírez-Mallafré, Ariadna; Joga-Elvira, Lorena; Manso-Bazus, Camen; Rubio-Roy, Marta; Baena-Diez, Neus (2025) Personalized Follow Up and Genetic Diagnosis Update of FMR1-Related Conditions: A Change in Diagnosis, Prognosis and Expectations. International Journal of Molecular Sciences, 26 (20). doi:10.3390/ijms262010101

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Reference TypeJournal (article/letter/editorial)
TitlePersonalized Follow Up and Genetic Diagnosis Update of FMR1-Related Conditions: A Change in Diagnosis, Prognosis and Expectations
JournalInternational Journal of Molecular Sciences
AuthorsRoche-Martínez, AnaAuthor
Ramírez-Mallafré, AriadnaAuthor
Joga-Elvira, LorenaAuthor
Manso-Bazus, CamenAuthor
Rubio-Roy, MartaAuthor
Baena-Diez, NeusAuthor
Year2025 (October 16)Volume26
Issue20
PublisherMDPI AG
DOIdoi:10.3390/ijms262010101Search in ResearchGate
Generate Citation Formats
Mindat Ref. ID19086677Long-form Identifiermindat:1:5:19086677:0
GUID0
Full ReferenceRoche-Martínez, Ana; Ramírez-Mallafré, Ariadna; Joga-Elvira, Lorena; Manso-Bazus, Camen; Rubio-Roy, Marta; Baena-Diez, Neus (2025) Personalized Follow Up and Genetic Diagnosis Update of FMR1-Related Conditions: A Change in Diagnosis, Prognosis and Expectations. International Journal of Molecular Sciences, 26 (20). doi:10.3390/ijms262010101
Plain TextRoche-Martínez, Ana; Ramírez-Mallafré, Ariadna; Joga-Elvira, Lorena; Manso-Bazus, Camen; Rubio-Roy, Marta; Baena-Diez, Neus (2025) Personalized Follow Up and Genetic Diagnosis Update of FMR1-Related Conditions: A Change in Diagnosis, Prognosis and Expectations. International Journal of Molecular Sciences, 26 (20). doi:10.3390/ijms262010101
In(2025, October) International Journal of Molecular Sciences Vol. 26 (20). MDPI AG

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Not Yet Imported: - journal-article : 10.1002/ajmg.a.63027

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Hwang, Y.T., Heard, R., and Hunter, M. (2014). 35. Case report: Concurrent occurrence of Fragile X syndrome and Fragile X associated tremor ataxia syndrome due to CGG repeat and methylation mosaicism. J. Clin. Neurosci., 21.
Not Yet Imported: - journal-article : 10.1586/14737159.2015.1101348

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Shou, X.Y., Zhu, Z.W., Jin, H., Hu, J.H., Yan, T.Z., Zhong, Q.Y., Li, W.H., Mao, J.H., Dong, M.Y., and Xu, Q. (2025). Enhanced accuracy and sensitivity in detecting FMR1 CGG repeats: A multicenter evaluation of a novel PCR-capillary electrophoresis assay. World J. Pediatr., 1–13.
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Not Yet Imported: Clinical Genetics - journal-article : 10.1111/cge.12278

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