Journal des syndromes génétiques et de la thérapie génique

Journal des syndromes génétiques et de la thérapie génique
Libre accès

ISSN: ISSN: 2157-7412

Volume 5, Problème 6 (2014)

Article de révision

The WD40 Repeat Protein Mutations: Genetics, Molecular Mechanisms and Therapeutic Implications

Caiguo Zhang

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article de recherche

Segregation of Malignant Hematological Disease in Families with Malignant Lymphoma

Haneef Awan, Johanna Furuholmen, Geir E. Tjønnfjord, Bernt Ly, Tom Børge Johannesen, Anne Tierens, Jan Delabie and Viggo Jonsson

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article de recherche

A Novel Mutation Involving the Initiation Codon of FGF3 in a Family Described with Complete Inner Ear Agenesis, Microtia and Major Microdontia (LAMM Syndrome)

Elise Schaefer, Maryline Minoux, Julia Lauer, Valérie Pelletier, Matthieu Schmittbuhl, Marie-Cécile Manière, François Clauss, Françis Veillon, Sophie Riehm, Corinne Stoetzel and Helene Dollfus

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