Journal des syndromes génétiques et de la thérapie génique
Libre accès

ISSN: ISSN: 2157-7412

Volume 7, Problème 5 (2016)

article de recherche

Assessment of Pep, Fndc5, C2c12, Pgc1Î± 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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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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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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Article de révision

CiliotherapyâNew Opportunity for Targeted Therapy in Autosomal Dominant Polycystic Kidney Disease.

Katarína Skalická and László Kovács

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Rapport de cas

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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article de recherche

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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Article de révision

Chronic Inflammation in CF Airways - A Persistent Issue for A20

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

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