Jornal de Síndromes Genéticas e Terapia Gênica

Jornal de Síndromes Genéticas e Terapia Gênica
Acesso livre

ISSN: ISSN: 2157-7412

Volume 4, Emitir 9 (2013)

Artigo de revisão

Review and actualizations of Molecular Genetic Diagnosis, Symptoms, and diagnostic strategies of Hereditary Hemochromatosis

Silvia Izquierdo Álvarez, Eloísa Urrechaga Igartua and Jesús Fernando Escanero Marcén

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Artigo de revisão

SNP-SNP Interactions: Focusing on Variable Coding for Complex Models of Epistasis

Fernando Pires Hartwig

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Relato de caso

Igg4-Related Aortitis of the Ascending Aorta in a Patient Undergoing Emergent Coronary Artery Bypass Graft: A Challenging Disease

Benassi Filippo, Molardi Alberto, Nicolini Francesco, Cocconcelli Flavio, Corradi Domenico, Cobelli Rocco, Bozzetti Francesca and Gherli Tiziano

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Artigo de revisão

Suicide Gene Therapy against Cancer

Konrad Rajab, Peter Nelson, Emily Z Keung and Claudius Conrad

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Artigo de revisão

PASD1: A Promising Target for the Immunotherapy of Haematological Malignancies

Ghazala Khan, Frances Denniss, Ken I Mills, Karen Pulford and Barbara-ann Guinn

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Artigo de Pesquisa

Clinical and Radiographic Heterogeneity of Interstitial Lung Disease in Systemic Sclerosis Based on Disease-Specific Autoantibodies

Tohru Takeuchi, Kentaro Isoda, Kenichiro Hata, Shuzo Yoshida, Koji Nagai, Takuya Kotani, Shigeki Makino and Toshiaki Hanfusa

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Relato de caso

A Case of Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne(PAPA) Syndrome Accompanied by Nephrosclerosis, Splenomegaly and Intestinal Lesions

Yamamoto A, Morio T, Kumaki E, Yamazaki H, Iwai H, Kubota T, Miyasaka N and Kohsaka H

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Artigo de Pesquisa

Hla Typing in Epidermolysis Bullosa Patients: Relevancy to Gluten Sensitivity

Annicchiarico G, Morgese MG, Fiore T, Mauro S, Garofalo L, Aceto G, Tampoia M, Bonamonte D, Minellic and Brunetti L

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Artigo de revisão

Fourty-Four Years of Brody Disease: It is Time to Review

Guglielmi V, Voermans NC, Gualandi F, Van Engelen BG, Ferlini A, Tomelleri G and Vattemi G

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Artigo de Pesquisa

Hb Nunobiki [α2 141(HC3) Arg→Cys; HBA2:c.424C>T] in Spain: Mutation de novo or Acquired?

Ropero P, González-Borrachero ML, Peña A, González FA, Fuente-Gonzalo F de la, Martínez J, Vinuesa L, Villegas A and Díaz-Mediavilla J

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