Journal of Genetic Syndromes & Gene Therapy

Journal of Genetic Syndromes & Gene Therapy
Open Access

ISSN: ISSN: 2157-7412

Volume 5, Issue 5 (2014)

Research Article

Pages: 1 - 7

Height Outcome of the Recombinant Human Growth Hormone Treatment in Subjects with Noonan Syndrome: A Meta-Analysis

Francesco Massart, Silvano Bertelloni, Mario Miccoli and Angelo Baggiani

DOI: 10.4172/2157-7412.1000238

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Research Article

Pages: 1 - 8

Adenovirus-Mediated Bcl-Xl Gene Therapy Combined with Pronase Treatment Protects the Small Intestine from Radiation-Induced Enteritis in Mouse Model

Fumikazu Koyama, Kazuaki Uchimoto, Hisao Fujii, Hirofumi Hamada, Kazuo Ohashi, Takeo Nomi, Tadashi Nakagawa, Shinji Nakamura, Takeshi Ueda and Yoshiyuki Nakajima

DOI: 10.4172/2157-7412.1000239

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Case Report

Pages: 1 - 3

A Case of Complete Cutaneous Syndactyly of the Toes with Non-Syndromic Phenotype

Avina Fierro JA and Hernandez Avina DA

DOI: 10.4172/2157-7412.1000240

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Review Article

Pages: 1 - 11

HBV/HCV Infection and Inflammation

Mohammad Khalid Zakaria, Anurag Sankhyan, Ashraf Ali, Kaneez Fatima, Esam Azhar and Ishtiaq Qadri

DOI: 10.4172/2157-7412.1000241

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Research Article

Pages: 1 - 4

"Mais-Nadim-Nasser Triad", A Useful Marker for Leukodystrophies Diagnosis

Nasser Nadim

DOI: 10.4172/2157-7412.1000242

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Research Article

Pages: 1 - 4

A New Homozygous ABCB4 Mutation Identified in Two Chinese Siblings Based on Exome Sequencing

Hui Lin, Rong Fu, Xiumin Zhang, Bihui Yao, Jing Ye, Jianguo Shi, Wen Sui and Zengshan Li

DOI: 10.4172/2157-7412.1000243

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Case Report

Pages: 1 - 3

Early Infantile Galactosialidosis Presenting with an Unusual Renal Involvement

Banu Guzel Nur, Gulsah Kaya Aksoy, Mustafa Koyun, Sema Akman and Ercan Mihci

DOI: 10.4172/2157-7412.1000244

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Research Article

Pages: 1 - 5

Identification of Novel Wsf1 Mutations in a Sicilian Child with Wolfram Syndrome

Giuseppe Pizzolanti, Laura Tomasello, Antonina Coppola, Maria Pitrone, Concetta Baiamonte, Alessandro Ciresi, Renata Lorini, Walter Arancio and Carla Giordano

DOI: 10.4172/2157-7412.1000245

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Research Article

Pages: 1 - 7

ADIPOR2 Polymorphisms in Cystic Fibrosis are Potential Modifiers of Clinical Severity

Fernando Augusto de Lima Marson, Luiza Annelene Zimmermann, Jose Dirceu Ribeiro and Carmen Silvia Bertuzzo

DOI: 10.4172/2157-7412.1000246

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Research Article

Pages: 1 - 6

Familial 15q11.2 Micro deletions are not Fully Penetrant in Two Cases with Hereditary Spastic Paraplegia and Dysmorphic Features

Ewelina Elert-Dobkowska, Iwona Stepniak, Marta Rajkiewicz, Wioletta Krysa, Maria Rakowicz, Dorota Hoffman-Zacharska, Wanda Lipczynska-Lojkowska, Jacek Zaremba and Anna Sulek

DOI: 10.4172/2157-7412.1000247

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Research Article

Pages: 1 - 11

Familial Mediterranean Fever: From Pathogenesis to Treatment

David QH Wang, Leonilde Bonfrate, Ornella de Bari, Tony Y Wang and Piero Portincasa

DOI: 10.4172/2157-7412.1000248

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