Amaia
Vela Desojo
Publicaciones en las que colabora con Amaia Vela Desojo (10)
2012
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Detection of hypomethylation syndrome among patients with epigenetic alterations at the GNAS locus
Journal of Clinical Endocrinology and Metabolism, Vol. 97, Núm. 6
2010
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Familial hyperinsulinism-hyperammonemia syndrome in a family with seizures: Case report
Journal of Pediatric Endocrinology and Metabolism, Vol. 23, Núm. 8, pp. 827-830
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Heterozygous glucokinase mutations and birth weight in Spanish children
Diabetic Medicine
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New mechanisms involved in paternal 20q disomy associated with pseudohypoparathyroidism
European Journal of Endocrinology, Vol. 163, Núm. 6, pp. 953-962
2009
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Hipoglucemia por hiperinsulinismo neonatal
Revista española de pediatría: clínica e investigación, Vol. 65, Núm. 5, pp. 495-508
2008
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Haploinsufficiency at GCK gene is not a frequent event in MODY2 patients
Clinical Endocrinology, Vol. 68, Núm. 6, pp. 873-878
2007
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Mutations in GCK and HNF-1α explain the majority of cases with clinical diagnosis of MODY in Spain
Clinical Endocrinology, Vol. 67, Núm. 4, pp. 538-546
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Panhypopituitarism: Genetic versus acquired etiological factors
Journal of Pediatric Endocrinology and Metabolism, Vol. 20, Núm. 1, pp. 27-36
2002
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Molecular analysis of Frasier syndrome: Mutation in the WT1 gene in a girl with gonadal dysgenesis and nephronophthisis
Journal of Pediatric Endocrinology and Metabolism, Vol. 15, Núm. 7, pp. 1047-1050
2001
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Molecular analysis of hereditary hyperferritinemia-cataract syndrome in a large Basque family
Journal of Pediatric Endocrinology and Metabolism, Vol. 14, Núm. 3, pp. 295-300