MARÍA ISABEL
TEJADA MÍNGUEZ
Ikertzailea 2019-(e)ra arte
OLATZ VILLATE BEJARANO-rekin lankidetzan egindako argitalpenak (7)
2022
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RNA Analysis and Clinical Characterization of a Novel Splice Variant in the NSD1 Gene Causing Familial Sotos Syndrome
Frontiers in Pediatrics, Vol. 10
2020
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Effect of AGG Interruptions on FMR1 Maternal Transmissions
Frontiers in Molecular Biosciences, Vol. 7
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Hereditary Spastic Paraplegia and Intellectual Disability: Clinicogenetic Lessons From a Family Suggesting a Dual Genetics Diagnosis
Frontiers in Neurology, Vol. 11
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Targeted next-generation sequencing in patients with suggestive X-linked intellectual disability
Genes, Vol. 11, Núm. 1
2019
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Molecular and clinical characterization of a novel nonsense variant in exon 1 of the upf3b gene found in a large spanish basque family (Mrx82)
Frontiers in Genetics, Vol. 10, Núm. OCT
2018
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Clinical implication of FMR1 intermediate alleles in a Spanish population
Clinical Genetics, Vol. 94, Núm. 1, pp. 153-158
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Functional analyses of a novel splice variant in the CHD7 gene, found by next generation sequencing, confirm its pathogenicity in a Spanish patient and diagnose him with CHARGE syndrome
Frontiers in Genetics, Vol. 9, Núm. JAN