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Papers 116

Prevalence of germline variants in USP8, USP48, CABLES1 and PAM in patients with pituitary adenomas
2026 European Journal of Endocrinology article Medicine Pituitary Gland Disorders and Treatments

1

citations
Acidosis tubular renal distal hereditaria: correlación genotípica, evolución a largo plazo y nuevas perspectivas terapéuticas
2020 Nefrología article Medicine Renal function and acid-base balance Open access

1

citations
Glucose metabolism outcomes after pituitary surgery in patients with acromegaly
2024 Research Square preprint Medicine Pituitary Gland Disorders and Treatments Open access

1

citations
T cell correction pipeline for Inborn Errors of Immunity
2024 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology CRISPR and Genetic Engineering Open access

1

citations
Remission of type 2 diabetes can be achieved in short and long-lasting type 2 diabetes: results of a randomized controlled trial in individuals with overweight and obesity
2025 medRxiv preprint Medicine Diabetes Treatment and Management Open access

1

citations
Management of patients with rare diseases in the Middle East: challenges & opportunities – insights from the Rare Advocacy Council
2026 Orphanet Journal of Rare Diseases article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access

0

citations
P293 - ECE_2003 - Recognising the burden of acquired hypothalamic obesity in craniopharyngioma: cross-country insights from lived experiences to support integrated care across all life stages
2026 European Journal of Endocrinology conference-abstract Medicine Pituitary Gland Disorders and Treatments Open access

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citations
Diagnostic des phéochromocytomes et paragangliomes
2020 ONCOLOGIE article Medicine Adrenal and Paraganglionic Tumors

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citations
SHORT syndrome: A good case can break an old acronym
2022 Endocrinología Diabetes y Nutrición article Medicine Diabetes Management and Research

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citations
The NR5A1/SF-1 variant p.Gly146Ala cannot explain the phenotype of individuals with a difference of sex development
2023 medRxiv preprint Biochemistry, Genetics and Molecular Biology Sexual Differentiation and Disorders Open access

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citations
SHORT syndrome: A good case can break an old acronym
2023 Endocrinología Diabetes y Nutrición (English ed ) article Social Sciences Diversity and Career in Medicine

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citations
Corrigendum: Kidney disease in adults with Prader-Willi syndrome: international cohort study and systematic literature review
2024 Frontiers in Endocrinology erratum Biochemistry, Genetics and Molecular Biology Genetic Syndromes and Imprinting Open access

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citations
Reply to: the utility of gallium-68 PET/CT in MEN1 related parathyroid disease
2024 European Journal of Endocrinology letter Medicine Parathyroid Disorders and Treatments

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citations
O-03 DELAYED PUBERTY AND GIANT PROLACTINOMA IN A 14-YEAR-OLD GIRL WITH A HISTORY OF ANOREXIA NERVOSA
2025 JCEM Case Reports article Medicine Pituitary Gland Disorders and Treatments Open access

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citations
Vitamin K in home parenteral nutrition: Is it really necessary?
2025 Endocrinología Diabetes y Nutrición article Nursing Clinical Nutrition and Gastroenterology

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citations
EndoCompass project: rare diseases in endocrinology
2025 European Journal of Endocrinology article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access

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citations
OR03-07 Real-World Effectiveness and Safety of Recombinant Human IGF-1 Treatment in Naïve Prepubertal Patients with Severe Primary IGF-I Deficiency at Near-Adult Height: Results from the Global IGFD Registry
2025 Journal of the Endocrine Society article Medicine Growth Hormone and Insulin-like Growth Factors Open access

0

citations
Severe early-onset osteoporosis due to heterozygous WNT1 variants in adults: a clinical and therapeutic challenge
2025 Journal of Bone and Mineral Research article Medicine Bone health and osteoporosis research Open access

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citations
EndoCompass Project: Rare Diseases in Endocrinology
2025 Hormone Research in Paediatrics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access

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citations
Unveiling the hidden: acquired pediatric hypothyroidism
2026 Frontiers in Endocrinology article Medicine Thyroid Disorders and Treatments Open access

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citations

Most cited authors