Jornal de Síndromes Genéticas e Terapia Gênica

Jornal de Síndromes Genéticas e Terapia Gênica
Acesso livre

ISSN: ISSN: 2157-7412

Volume 4, Emitir 10 (2013)

Artigo de Pesquisa

EEG Correlates of Emotional Experience in Huntington ’ s Disease

M de Tommaso, Serpino C, Cormio C, Sciruicchio V, Franco G, Ricci K, Lorenzo M and Livrea P

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Relato de caso

A Late-Onset Case of Neutral Lipid Storage Disease with Myopathy, Dropped Head Syndrome, and Peripheral Nerve Involvement

Daniela Tavian, Sara Missaglia, Salvatore DiMauro, Claudio Bruno, Elena Pegoraro, Giovanna Cenacchi, Domenico Coviello and Corrado Angelini

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Carta ao Editor

Novel Germline Mutation (Q1260X) in APC Gene Causes Familial Adenomatous Polyposis in a Ukrainian Family

Luciana Russo, Rosa Anna Cifarelli, Beatrice Di Venere, Alessandro Sgambato, Marina Susi, Alberto Fragasso and Oronzo Scarciolla

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Relato de caso

Iridocyclitis in a Female Patient with a Variant of Turner Syndrome

Sofocleous Christalena, Tsoutsou Eirini, Fafoula Olga, Maritsi Despina and Fryssira Helen

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Artigo de revisão

Preimplantation Hla Typing- Practical Tool for Stem Cell Transplantation Treatment of Congenital and Acquired Disorders

Anver Kuliev, Oleg Verlinsly and Svetlana Rechitsky

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Artigo de revisão

Antisense Oligonucleotides Therapy in the Treatment of Cerebral Gliomas: A Review

Maria Caffo, Gerardo Caruso, Marcello Passalacqua, Filippo F Angileri and Francesco Tomasello

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Artigo de revisão

Are Fragment C Gamma Receptor (FCGR) Germline Polymorphisms Predictive Biomarkers in Metastatic Colorectal Cancer?

Formica V, Cereda V, Nardecchia A, Morelli C, Lucchetti J and Roselli M

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Artigo de revisão

Genetic Disorders Leading to Hypoglycaemia

Suresh Chandran, Fabian Yap and Khalid Hussain

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Artigo de Pesquisa

Mismatch DNA Repair hMSH2, hMLH1, hMSH6 and hPMS2 mRNA Expression Profiles in Colorectal Carcinomas

Dimitra P Vageli, Roidoula Papamichali, Konstantinos Kambosioras, Christos N Papandreou and George K Koukoulis

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Relato de caso

Autosomal Dominant Diseases are too Often Overlooked in the Parents of Affected Children: Report of Six Cases

Giulia Melloni, Maria Francesca Bedeschi, Claudia Cesaretti, Donatella Milani, Luisa Ronzoni, Luisa Ronzoni, Barbara Gentilin, Vera Bianchi, Federica Natacci and Faustina Lalatta

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