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Publications by Helen Fryssira-Kanioura

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

Clinical Genetics

English

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

English

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

Journal of Pediatric Nursing

English

Distinctive Phenotypic Abnormalities Associated With Submicroscopic 21q22 Deletion Including DYRK1A

Molecular Syndromology

English

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

Molecular Therapy

Molecular Medicine

Molecular Biology

English

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

Annals of Clinical Biochemistry

Clinical Biochemistry

English

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

British Journal of Pharmacology

English

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

English