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Plasma and urine metabolic fingerprinting of type 1 diabetic children

Electrophoresis, 2013-10, Vol.34 (19), p.2882-2890

2013

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Beckwith-Wiedemann syndrome and uniparental disomy 11p: fine mapping of the recombination breakpoints and evaluation of several techniques

European journal of human genetics : EJHG, 2011-04, Vol.19 (4), p.416-421

2011

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CDKN1C (p57Kip2) analysis in Beckwith-Wiedemann syndrome (BWS) patients: Genotype-phenotype correlations, novel mutations, and polymorphisms

American journal of medical genetics. Part A, 2010-06, Vol.152A (6), p.1390-1397

2010

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Impact of Heterozygosity for Acid-Labile Subunit (IGFALS) Gene Mutations on Stature: Results from the International Acid-Labile Subunit Consortium

The journal of clinical endocrinology and metabolism, 2010-09, Vol.95 (9), p.4184-4191

2010

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Follow-up and risk of tumors in overgrowth syndromes

Journal of pediatric endocrinology & metabolism : JPEM, 2005-01, Vol.18 Suppl 1, p.1227

2005

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Individualised vs fixed dose of oral 17β-oestradiol for induction of puberty in girls with Turner syndrome: an open-randomised parallel trial

European journal of endocrinology, 2012-10, Vol.167 (4), p.523

2012

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Metabolomic approach to the nutraceutical effect of rosemary extract plus ω-3 PUFAs in diabetic children with capillary electrophoresis

Journal of pharmaceutical and biomedical analysis, 2010-12, Vol.53 (5), p.1298-1304

2010

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Identification of a Gypsy SHOX mutation (p.A170P) in Léri-Weill dyschondrosteosis and Langer mesomelic dysplasia

European journal of human genetics : EJHG, 2011-12, Vol.19 (12), p.1218-1225

2011

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Metabolomic approach to the nutraceutical effect of rosemary extract plus [Omega]-3 PUFAs in diabetic children with capillary electrophoresis

Journal of pharmaceutical and biomedical analysis, 2010-12, Vol.53 (5), p.1298-1304

2010

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Insuficiencia suprarrenal primaria asociada a hipogonadismo hipogonadotrópico por mutación del gen DAX-1

Medicina clínica, 2009-10, Vol.133 (13), p.525-525

2009

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Metabolomic approach to the nutraceutical effect of rosemary extract plus ω-3 PUFAs in diabetic children with capillary electrophoresis: Electromigration Techniques in Pharmaceutical and Biomedical Analysis - in honour of Professor Jacques Crommen

Journal of pharmaceutical and biomedical analysis, 2010, Vol.53 (5), p.1298-1304

2010

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Mutation in DAX-1 gene as a cause of primary hypoadrenalism and hypogonadotropic hypogonadism

Medicina clínica, 2009-10, Vol.133 (13), p.525

2009

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Alteraciones de la función tiroidea en niños con cardiopatía congénita tras la realización de cateterismo con contrastes yodados

Revista española de cardiologia, 2000, Vol.53 (4), p.517-524

2000

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Osteoporosis y deformidades óseas: sospecha de síndrome de Winchester

Endocrinologia y nutricion, 2008-06, Vol.55 (6), p.274-277

2008

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Mutation in DAX-1 gene as a cause of primary hypoadrenalism and hypogonadotropic hypogonadism

Medicina clinica, 2009, Vol.133 (13), p.525-525

2009

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Plasma and urine metabolic fingerprinting of type 1 diabetic children

Beckwith-Wiedemann syndrome and uniparental disomy 11p: fine mapping of the recombination breakpoints and evaluation of several techniques

CDKN1C (p57Kip2) analysis in Beckwith-Wiedemann syndrome (BWS) patients: Genotype-phenotype correlations, novel mutations, and polymorphisms

Impact of Heterozygosity for Acid-Labile Subunit (IGFALS) Gene Mutations on Stature: Results from the International Acid-Labile Subunit Consortium

Follow-up and risk of tumors in overgrowth syndromes

Individualised vs fixed dose of oral 17β-oestradiol for induction of puberty in girls with Turner syndrome: an open-randomised parallel trial

Metabolomic approach to the nutraceutical effect of rosemary extract plus ω-3 PUFAs in diabetic children with capillary electrophoresis

Identification of a Gypsy SHOX mutation (p.A170P) in Léri-Weill dyschondrosteosis and Langer mesomelic dysplasia

Metabolomic approach to the nutraceutical effect of rosemary extract plus [Omega]-3 PUFAs in diabetic children with capillary electrophoresis

Insuficiencia suprarrenal primaria asociada a hipogonadismo hipogonadotrópico por mutación del gen DAX-1

Metabolomic approach to the nutraceutical effect of rosemary extract plus ω-3 PUFAs in diabetic children with capillary electrophoresis: Electromigration Techniques in Pharmaceutical and Biomedical Analysis - in honour of Professor Jacques Crommen

Mutation in DAX-1 gene as a cause of primary hypoadrenalism and hypogonadotropic hypogonadism

Alteraciones de la función tiroidea en niños con cardiopatía congénita tras la realización de cateterismo con contrastes yodados

Osteoporosis y deformidades óseas: sospecha de síndrome de Winchester

Mutation in DAX-1 gene as a cause of primary hypoadrenalism and hypogonadotropic hypogonadism

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