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Publications by Christalena Sofocleous

Phenotypic and Genotypic Variability in Four Males With MECP2 Gene Sequence Aberrations Including a Novel Deletion

Pediatric Research

English

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Mosaic MECP2 Variants in Males With Classical Rett Syndrome Features, Including Stereotypical Hand Movements

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Identification of Chromosomal Aberrations Associated With Disease Progression and a Novel 3q13.31 Deletion Involving LSAMP Gene in Osteosarcoma

International Journal of Oncology

Cancer Research

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007-Phenotypic and Genotypic Variability in Clinical Presentation in a Family With Congenital Adrenal Hyperplasia

Journal of Pediatric Nursing

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Distinctive Phenotypic Abnormalities Associated With Submicroscopic 21q22 Deletion Including DYRK1A

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Improved Survival and Reduced Phenotypic Severity Following AAV9/MECP2 Gene Transfer to Neonatal and Juvenile Male Mecp2 Knockout Mice

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Molecular Medicine

Molecular Biology

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Four Cases of Autosomal Dominant Hypocalcaemia With Hypercalciuria Including Two With Novel Mutations in the Calcium-Sensing Receptor Gene

Annals of Clinical Biochemistry

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Genotypic and Phenotypic Analysis of the Polymorphic Thiopurine S-Methyltransferase Gene (TPMT) in a European Population

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Phenotypic Robustness Can Increase Phenotypic Variability After Nongenetic Perturbations in Gene Regulatory Circuits

Journal of Evolutionary Biology

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Structural Aberrations of ‘Y’ Chromosome in Azoospermic Males

International Journal of Anatomy and Research

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