Journal des syndromes génétiques et de la thérapie génique

Journal des syndromes génétiques et de la thérapie génique
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ISSN: ISSN: 2157-7412

Volume 8, Problème 2 (2017)

article de recherche

Assessment of Mutation Genetics in FAM20A and FAM20C Genes Induction Syndrome Raine with New Mutation c.977-1T>A

Shahin Asadi

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article de recherche

Application of CRISPR/Cas9 Genome Editing in Genetic Disorders: A Systematic Review Up to Date

Vivek K Pandey, Anima Tripathi, Ravi Bhushan, Akhtar Ali, Pawan K Dubey

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Éditorial

The Conundrums of 3'Phoaphoadenosine 5'Phosphosulfate (PAPS) Synthase (PAPSS)

Venkatachalam KV

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Rapport de cas

Peters Plus Syndrome: Another Way to See a Known Syndrome

Elisabetta Grande, Serena Ciabattoni, Elena Andreucci, Chiara Romano, Gianluca Capecchi, Silvia Ferranti and Salvatore Grosso

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Article de révision

Polyglutamine ataxias: From Clinical and Molecular Features to Current Therapeutic Strategies

Craig S McIntosh, May Thandar Aung-Htut, Sue Fletcher and Steve D Wilton

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Rapport de cas

Keratoacanthoma in Xeroderma Pigmentosum: An Entity Beyond Guess

Radhika Varma, Priya Prathap

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