BLANCA
GENER QUEROL
Hospital Universitario Son Espases
Palma, EspañaPublications en collaboration avec des chercheurs de Hospital Universitario Son Espases (7)
2024
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Genetic and phenotypic findings in 34 novel Spanish patients with DDX3X neurodevelopmental disorder
Clinical Genetics, Vol. 105, Núm. 2, pp. 140-149
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Identification of copy-number variants in patients with overgrowth disorders
Clinical Genetics, Vol. 106, Núm. 5, pp. 614-624
2022
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Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals
Frontiers in Genetics, Vol. 13
2021
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Author Correction: Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications (Scientific Reports, (2021), 11, 1, (1526), 10.1038/s41598-021-81093-y)
Scientific Reports
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Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications
Scientific Reports, Vol. 11, Núm. 1
2019
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Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome (Genetics in Medicine, (2019), 21, 6, (1295-1307), 10.1038/s41436-018-0330-z)
Genetics in Medicine
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The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome
Genetics in Medicine, Vol. 21, Núm. 6, pp. 1295-1307