ARRATE PEREDA AGUIRRE-rekin lankidetzan egindako argitalpenak (4)
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
2014
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Pseudohypoparathyroidism vs. tricho-rhino-phalangeal syndrome: Patient reclassification
Journal of Pediatric Endocrinology and Metabolism, Vol. 27, Núm. 11-12, pp. 1089-1094
2013
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Brachydactyly E: Isolated or as a feature of a syndrome
Orphanet Journal of Rare Diseases, Vol. 8, Núm. 1