Journal des syndromes génétiques et de la thérapie génique
Libre accès

ISSN: ISSN: 2157-7412

Volume 4, Problème 10 (2013)

article de recherche

EEG Correlates of Emotional Experience in Huntington â s Disease

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

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Rapport de cas

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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Lettre à la rédaction

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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Rapport de cas

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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Article de révision

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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Article de révision

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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Article de révision

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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Article de révision

Genetic Disorders Leading to Hypoglycaemia

Suresh Chandran, Fabian Yap and Khalid Hussain

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article de recherche

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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Rapport de cas

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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