Jordi
Rosell Andreo
Publikationen, an denen er mitarbeitet Jordi Rosell Andreo (6)
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
2020
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Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients
European Journal of Human Genetics, Vol. 28, Núm. 4, pp. 469-479