Search Results - "Oltra, Juan Silvestre"
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Precision medicine in relapsed or refractory pediatric solid tumors: a collaborative Spanish initiative
Published in Translational medicine communications (02-07-2019)“…Background Understanding pediatric cancer biology is a huge challenge in continuous development that is currently being implemented into the clinical practice…”
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2
New variants expand the neurological phenotype of COQ7 deficiency
Published in Journal of inherited metabolic disease (01-09-2024)“…The protein encoded by COQ7 is required for CoQ10 synthesis in humans, hydroxylating 3‐demethoxyubiquinol (DMQ10) in the second to last steps of the pathway…”
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Duplication of the Williams–Beuren critical region: case report and further delineation of the phenotypic spectrum
Published in BMJ case reports (23-01-2009)“…Only 12 patients with a duplication of the Williams-Beuren critical region (WBCR) have been reported to date, with variable developmental, psychomotor and…”
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4
Malignant melanoma of soft parts: A rare entity with a specific genetic marker
Published in Pediatric Blood & Cancer (01-05-2006)Get full text
Journal Article -
5
Duplication of the Williams–Beuren critical region: case report and further delineation of the phenotypic spectrum
Published in BMJ case reports (2009)“…Only 12 patients with a duplication of the Williams-Beuren critical region (WBCR) have been reported to date, with variable developmental, psychomotor and…”
Get full text
Journal Article -
6
Duplication of the Williams–Beuren critical region: case report and further delineation of the phenotypic spectrum
Published in BMJ case reports (2009)“…Only 12 patients with a duplication of the Williams-Beuren critical region (WBCR) have been reported to date, with variable developmental, psychomotor and…”
Get full text
Journal Article -
7
Malignant melanoma of soft parts: a rare entity with a specific genetic marker
Published in Pediatric blood & cancer (01-05-2006)Get full text
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