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 7, 問題 5 (2016)

研究論文

Assessment of Pep, Fndc5, C2c12, Pgc1α Pattern of Genes Expression during Differentiation of Human Embryonic Stem Cells into Heart Cells

Shahin Asadi, Zahra Gholizadeh, Mahsa Sadat Mir Jamali and Mina Niknia

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研究論文

Utility of Exome Sequencing in A Familial Trio as A Diagnostic Tool in Cardiomyopathies

Irene Gómez-Manjón, Ana Moreno-Izquierdo, Marta Moreno-Garcia, Aitor Delmiro and Francisco Javier Fernández-Martínez

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研究論文

A Fragmented Adeno-Associated Viral Dual Vector Strategy for Treatment of Diseases Caused by Mutations in Large Genes Leads to Expression of Hybrid Transcripts

Michelle E McClements, Peter Charbel Issa, Véronique Blouin and Robert E MacLaren

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総説

Ciliotherapy–New Opportunity for Targeted Therapy in Autosomal Dominant Polycystic Kidney Disease.

Katarína Skalická and László Kovács

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症例報告

Prenatal assessment of Three Rare Syndromes from Telangana region by 3D/4D Sonography

Deepika MLN, Sunitha T, Srinadh B, Prasoona KR, Sujatha M, Ramaiah A, Jyothy A and Pratibha N

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研究論文

A Genome Wide Copy Number Variations Analysis in Autism Spectrum Disorder (Asd) and Intellectual Disability (Id) in Italian Families

Mucciolo Mafalda, Chiara Di Marco, Roberto Canitano, Sabrina Buoni, Elisa Frullanti, Maria Antonietta Mencarelli, Bizzarri Veronica, Sonia Amabile, Lucia Radice, Margherita Baldassarri, Caterina Lo Rizzo, Ilaria Meloni, Joussef Hayek, Alessandra Renieri and Francesca Mari

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総説

Chronic Inflammation in CF Airways - A Persistent Issue for A20

McCallum K, El Banna A, Ennis M and Schock BC

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