HIART
MAORTUA OLABE
Hospital de Cruces
Barakaldo, EspañaPublications in collaboration with researchers from Hospital de Cruces (7)
2023
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Germline heterozygous exons 8–11 pathogenic BARD1 gene deletion reported for the first time in a family with suspicion of a hereditary colorectal cancer syndrome: more than an incidental finding?
Hereditary Cancer in Clinical Practice, Vol. 21, Núm. 1
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
2016
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Analysis of lynch syndrome mismatch repair genes in women with endometrial cancer
Oncology (Switzerland), Vol. 91, Núm. 3, pp. 171-176
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The MECP2 variant c.925C>T (p.Arg309Trp) causes intellectual disability in both males and females without classic features of Rett syndrome
Clinical Genetics, Vol. 89, Núm. 6, pp. 733-738
2013
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MECP2 gene study in a large cohort: Testing of 240 female patients and 861 healthy controls (519 females and 342 males)
Journal of Molecular Diagnostics, Vol. 15, Núm. 5, pp. 723-729
2012
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CDKL5 gene status in female patients with epilepsy and Rett-like features: two new mutations in the catalytic domain
BMC Medical Genetics, Vol. 13