Journal des syndromes génétiques et de la thérapie génique
Libre accès

ISSN: ISSN: 2157-7412

Volume 7, Problème 1 (2016)

Procédure de conférence

Report: Fourth International Workshop for Glycosylation Defects in Muscular Dystrophies

Anthony Blaeser, Amy Harper, Kevin Campbell and Qi Long Lu

Partagez cet article

article de recherche

Association of Superoxide Dismutase 2 Polymorphism Rs4880 and Open-Angle Glaucoma in a Greek Patients Cohort

Anastasios Lavaris, Maria Gazouli, Georgios Kitsos, Dimitrios Brouzas and Marilita M Moschos

Partagez cet article

Article de révision

Natural Compounds as Therapeutic Agents in the Treatment Cystic Fibrosis

Isha Dey, Kalpit Shah and Neil A Bradbury

Partagez cet article

Rapport de cas

Two Familial Cases of Robertsonian Transloacations 13; 14 and Its Clinical Consequences

Sushil Kumar Jaiswal, Aishvarya Upadhyay, Akhtar Ali, Shashi Kala Upadhyay, Ashok Kumar and Amit Kumar Rai

Partagez cet article

Rapport de cas

Normal Child by a Gestational Carrier of a Phenylketonuria (PKU) Mother-An Alternative to Diet

PiNian Chang and Robert O Fisch

Partagez cet article

Rapport de cas

Polyposis Caused by Low APC Mosaicism

Ariel A Benson, Brian H Shirts, Angela Jacobson, Colin C Pritchard, Tom Walsh, Harold Jacob and Yael Goldberg

Partagez cet article

article de recherche

Cytogenetic Study of Down Syndrome In Algeria: Report and Review

Fayza Belmokhtar, Rahma Belmokhtar and Ahmed Kerfouf

Partagez cet article

article de recherche

Detecting Psychiatric Profile in Genetic Syndromes: A Comparison of Down Syndrome and Williams Syndrome

Stefano Vicari, Floriana Costanzo, Marco Armando, Giovanni Carbonara, Pamela Varvara, Cristina Caciolo, Chiara Gagliardi, Tiziana Gianesini, Paolo Alfieri, Rossella Capolino and Deny Menghini

Partagez cet article

article de recherche

Hepatoblastoma and microRNA-483 Two Forms and One Outcome

Marco Salvatore, Armando Magrelli, Valentini Flamini, Andrea Brunati, Eleonora Basso, Renato Romagnoli, Ezio David and Domenica Taruscio

Partagez cet article

article de recherche

Easychip 8x15k: A New Tool for Detecting Chromosome Anomalies in Low Risk Pregnancies, Supporting and Integrating Standard Karyotype

Viola Alesi, Laura Bernardini, Didier Goidin, Michela Canestrelli, Maria Lisa Dentici, Giuseppe Barrano, Maria Grazia Giuffrida, Anna Maria Nardone, Diana Postorivo, Luigi Laino, Rita Genesio, Bruno Dallapiccola and Antonio Novelli

Partagez cet article

Top