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Publications by Adrian J L Clark

Functional Consequence of a Novel Y129C Mutation in a Patient With Two Contradictory Melanocortin-2-Receptor Mutations

European Journal of Endocrinology

English

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A Novel Missense Mutation T101N in the Melanocortin-4 Receptor Gene Associated With Obesity

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Neonatal Presentation of Familial Glucocorticoid Deficiency Resulting From a Novel Splice Mutation in the Melanocortin 2 Receptor Accessory Protein

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A Novel Mutation Thr162Arg of the Melanocortin 4 Receptor Gene in a Spanish Children and Adolescent Population

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Two Novel Mutations in the SLC25A4 Gene in a Patient With Mitochondrial Myopathy

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Identification of Two Novel LAMA2 Mutations in a Chinese Patient With Congenital Muscular Dystrophy

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A Novel POLG Gene Mutation in a Patient With SANDO

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Two Novel Mutations of the CYP11B2 Gene in a Japanese Patient With Aldosterone Deficiency Type 1

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A Novel BRCA1 Mutation in a Spanish Patient With Ovarian Cancer

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Melanocortin-4 Receptor Gene Mutations in a Group of Turkish Obese Children and Adolescents

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