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Publications by Rebecca Martins

Clinical and Molecular Characterization of a Severe Form of Partial Lipodystrophy Expanding the Phenotype of PPARγ Deficiency

Journal of Lipid Research
BiochemistryEndocrinologyCell Biology
2012English

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PNPO Deficiency and Cirrhosis: Expanding the Clinical Phenotype?

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Expanding the Clinical Phenotype of the 3q29 Microdeletion Syndrome and Characterization of the Reciprocal Microduplication

Molecular Cytogenetics
BiochemistryMolecular MedicineGeneticsMolecular Biology
2008English

Acquired Partial Lipodystrophy

2020English

Association of Partial Lipodystrophy and Sjögren's Syndrome

Japanese Journal of Clinical Immunology
1983English

Expanding the Phenotype Half of the Genotype−phenotype Space

Proceedings of the National Academy of Sciences of the United States of America
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Clinical and Molecular Heterogeneity of RTEL1 Deficiency

Frontiers in Immunology
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Mutations inRIT1cause Noonan Syndrome - Additional Functional Evidence and Expanding the Clinical Phenotype

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Is Severe Obesity a Form of Addiction?: Rationale, Clinical Approach, and Controlled Clinical Trial

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LIPE-related Familial Partial Lipodystrophy

2020English

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