Publications dans lesquelles il/elle collabore avec YERAI VADO RANERO (5)
2024
2023
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Frequency of de novo variants and parental mosaicism in families with inactivating PTH/PTHrP signaling disorder type 2
Frontiers in Endocrinology, Vol. 13
2021
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Sporadic Creutzfeldt–Jakob disease with extremely long 14-year survival period
European Journal of Neurology, Vol. 28, Núm. 9, pp. 2901-2906
2020
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Novel variant in plag1 in a familial case with silver–russell syndrome suspicion
Genes, Vol. 11, Núm. 12, pp. 1-9
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