GUIOMAR PÉREZ DE NANCLARES LEAL-rekin lankidetzan egindako argitalpenak (5)
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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Cri-du-chat syndrome mimics Silver-Russell syndrome depending on the size of the deletion: A case report 06 Biological Sciences 0604 Genetics
BMC Medical Genomics, Vol. 11, Núm. 1
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What to consider when pseudohypoparathyroidism is ruled out: IPPSD and differential diagnosis
BMC Medical Genetics, Vol. 19, Núm. 1
2013
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Brachydactyly E: Isolated or as a feature of a syndrome
Orphanet Journal of Rare Diseases, Vol. 8, Núm. 1