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Neuro-Degenerative Diseases|November 27, 2015
Skewed X Inactivation in Women Carrying the FMR1 Premutation and Its Relation with Fragile-X-Associated Tremor/Ataxia SyndromeMaria Isabel Alvarez-Mora, Laia Rodriguez-Revenga, Aina Feliu, et al.
Cancer Genetics and Cytogenetics|October 3, 2006
Fluorescence in situ hybridization studies using BAC clones of the EVI1 locus in hematological malignancies with 3q rearrangementsIrene Madrigal, Ana Carrió, Cándida Gómez, et al.
Prenatal Diagnosis|October 12, 2010
Subtelomeric MLPA: is it really useful in prenatal diagnosis?Irene Mademont-Soler, Carme Morales, Jordi Bruguera, et al.
Journal of Human Genetics|September 24, 2010
Xq26.2-q26.3 microduplication in two brothers with intellectual disabilities: clinical and molecular characterizationIrene Madrigal, Miguel Fernández-Burriel, Laia Rodriguez-Revenga, et al.
Orphanet Journal of Rare Diseases|February 20, 2022
Diagnostic yield of next-generation sequencing in 87 families with neurodevelopmental disordersMaría Isabel Álvarez-Mora, Aurora Sánchez, Laia Rodríguez-Revenga, et al.
European Journal of Human Genetics : EJHG|April 16, 2009
Penetrance of FMR1 premutation associated pathologies in fragile X syndrome familiesLaia Rodriguez-Revenga, Irene Madrigal, Javier Pagonabarraga, et al.
Epileptic Disorders : International Epilepsy Journal with Videotape|February 10, 2026
The emerging role of citrate as a diagnostic biomarker in SLC13A5-developmental and epileptic encephalopathyLaia Nou-Fontanet, Noelia Muñoz-Puga, Irene Madrigal, et al.
Fetal Diagnosis and Therapy|December 6, 2021
Significance of Low Maternal Serum Β-hCG Levels in the Assessment of the Risk of Atypical Chromosomal AbnormalitiesRobin Wijngaard, Elena Casals, Imma Mercadé, et al.
Prenatal Diagnosis|December 18, 2023
A novel NONO nonsense variant in a fetus with renal abnormalitiesLaia Rodriguez-Revenga, Alfons Nadal, Virginia Borobio, et al.
Natural Product Research|October 21, 2021
In vitro activity of essential oils against microbial isolates from otitis externa cases in dogsManuel Gómez-García, Irene Madrigal, Héctor Puente, et al.
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