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Publications by Etelka Postyeni

Kleefstra Syndrome in Hungarian Patients: Additional Symptoms Besides the Classic Phenotype

Molecular Cytogenetics
BiochemistryMolecular MedicineGeneticsMolecular Biology
2016English

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

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Evaluation of Classic Wiskott Aldrich Syndrome With Mild Symptoms in Two Cousins: A Case Report

Iranian Journal of Pediatrics
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2017English

Genotype-Phenotype Correlation in Brazillian Rett Syndrome Patients

Arquivos de Neuro-Psiquiatria
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2009English

Reversible White Matter Lesions Associated With mutantEHMT1and Kleefstra Syndrome

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Metabolic Progression to Clinical Phenotype in Classic Fabry Disease

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Report of Three Novel Germline CYLD Mutations in Unrelated Patients With Brooke-Spiegler Syndrome, Including Classic Phenotype, Multiple Familial Trichoepitheliomas and Malignant Transformation

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2015English

HLA Class II Allele Polymorphism in Hungarian Patients With Primary Sjögren's Syndrome

Scandinavian Journal of Rheumatology
MedicineRheumatologyAllergyImmunology
2006English

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