CÉLULAS MADRE Y TERAPIA CELULAR
Fundación Jiménez Díaz
Madrid, EspañaPublikationen in Zusammenarbeit mit Forschern von Fundación Jiménez Díaz (5)
2023
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Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: Addition of 67 new patients
Journal of Medical Genetics, Vol. 60, Núm. 7, pp. 644-654
2022
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Activation of cryptic donor splice sites by non-coding and coding PAX6 variants contributes to congenital aniridia
Journal of Medical Genetics, Vol. 59, Núm. 5, pp. 428-437
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
2018
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What to consider when pseudohypoparathyroidism is ruled out: IPPSD and differential diagnosis
BMC Medical Genetics, Vol. 19, Núm. 1