Jornal de Síndromes Genéticas e Terapia Gênica
Acesso livre

ISSN: ISSN: 2157-7412

Volume 7, Emitir 1 (2016)

Procedimento da Conferência

Report: Fourth International Workshop for Glycosylation Defects in Muscular Dystrophies

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

Compartilhe este artigo

Artigo de Pesquisa

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

Compartilhe este artigo

Artigo de revisão

Natural Compounds as Therapeutic Agents in the Treatment Cystic Fibrosis

Isha Dey, Kalpit Shah and Neil A Bradbury

Compartilhe este artigo

Relato de caso

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

Compartilhe este artigo

Relato de caso

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

PiNian Chang and Robert O Fisch

Compartilhe este artigo

Relato de caso

Polyposis Caused by Low APC Mosaicism

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

Compartilhe este artigo

Artigo de Pesquisa

Cytogenetic Study of Down Syndrome In Algeria: Report and Review

Fayza Belmokhtar, Rahma Belmokhtar and Ahmed Kerfouf

Compartilhe este artigo

Artigo de Pesquisa

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

Compartilhe este artigo

Artigo de Pesquisa

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

Compartilhe este artigo

Artigo de Pesquisa

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

Compartilhe este artigo

Top