遺伝症候群と遺伝子治療のジャーナル

遺伝症候群と遺伝子治療のジャーナル
オープンアクセス

ISSN: ISSN: 2157-7412

音量 5, 問題 5 (2014)

研究論文

Familial Mediterranean Fever: From Pathogenesis to Treatment

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

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研究論文

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

Nasser Nadim

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研究論文

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

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研究論文

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

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総説

HBV/HCV Infection and Inflammation

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

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研究論文

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

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症例報告

Early Infantile Galactosialidosis Presenting with an Unusual Renal Involvement

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

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研究論文

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

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研究論文

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

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研究論文

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

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症例報告

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

Avina Fierro JA and Hernandez Avina DA

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