Publicaciones en las que colabora con YERAI VADO RANERO (6)
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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Gernutik lortutako zelula ama mesenkimalak (hUSC) pseudohipoparatiroidismoaren (PHP)terapia geniko ez-biralerako
Osasun zientzak: IV. Ikergazte Nazioarteko Ikerteta Euskaraz. 2021eko ekainaren 9, 10 eta . Gasteiz, Euskal Herria.
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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
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
2016
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Marfan Syndrome Caused by Somatic Mosaicism in an FBN1 Splicing Mutation
Revista Espanola de Cardiologia, Vol. 69, Núm. 5, pp. 520-521