Journal des syndromes génétiques et de la thérapie génique | 4

Volume 4, Problème 11 (2013)

Rapport de cas

Infant Spinocerebellar Ataxia Type 27: Early Presentation Due To a 13q33.1 Microdeletion Involving the FGF14 Gene

Megan E Tucker, Fayth M Kalb and Luis F Escobar

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Rapport de cas

A Mosaic Ring Chromosome 21 in a Patient with Mild Intellectual Disability not Evidenced by Array-Cgh

Lucia Militti, Melissa Alfonsi, Chiara Palka, Alessandra Soranno, Giuseppe Calabrese, Giandomenico Palka, Robert T Zori and Paolo Guanciali-Franchi

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article de recherche

Preliminary Hormonal Correlations in Female Patients as a Function of Somatic and Neurological Symptom Clusters: An Exploratory Development of a Multi-Hormonal Map for Bio-Identical Replacement Therapy (MHRT)

Eric R Braverman, Marlene Oscar-Berman, Florian Kreuk, Mallory Kerner, Kristina Dushaj, Mona Li, Danielle Stratton, Courtney Trudesdell and Kenneth Blum

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Article de révision

Genetic and Epigenetic Regulation of Interferon Regulatory Factor Expression: Implications in Human Malignancies

Fragale A, Marsili G and Battistini A

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article de recherche

Association Study of MAFA and MAFB Genes Related to Organ-Specific Autoimmunity, with Susceptibility to Type-1 Diabetes in Japanese and Caucasian Populations

Shinsuke Noso, Yumiko Kawabata, Naru Babaya, Yoshihisa Hiromine, Eiji Kawasaki, Takuya Awata, Taro Maruyama, Sunanda Babu, Naoki Oiso, Akira Kawada, Tamio Suzuki, George S Eisenbarth and Hiroshi Ikegami

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Article de révision