Jornal de Síndromes Genéticas e Terapia Gênica

Jornal de Síndromes Genéticas e Terapia Gênica
Acesso livre

ISSN: ISSN: 2157-7412

Volume 7, Emitir 5 (2016)

Artigo de Pesquisa

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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Artigo de Pesquisa

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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Artigo de Pesquisa

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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Artigo de revisão

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

Katarína Skalická and László Kovács

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Relato de caso

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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Artigo de Pesquisa

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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Artigo de revisão

Chronic Inflammation in CF Airways - A Persistent Issue for A20

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

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