Pedro
Martul Tobío
Publicaciones en las que colabora con Pedro Martul Tobío (7)
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
2006
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Functional study of a novel single deletion in the TITF1/NKX2.1 homeobox gene that produces congenital hypothyroidism and benign chorea but not pulmonary distress
Journal of Clinical Endocrinology and Metabolism, Vol. 91, Núm. 5, pp. 1832-1841
2005
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Heterogeneity of vitamin D receptor gene association with celiac disease and type 1 diabetes mellitus
Autoimmunity, Vol. 38, Núm. 6, pp. 439-444
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