Jornal de doenças genéticas e relatórios genéticos

Artigo de Revisão

Non-Viral Vectors for Cystic Fibrosis Therapy: Recent Advances

• Faisal Qaisar, Anum Habib, Noor Muhammad and Zia ur Rehman

Artigo de Pesquisa

Parental Consanguinity and Birth Defects in Lebanon: The National Collaborative Perinatal Neonatal Network (NCPNN)

• Farra C, El Rafei R, Mumtaz G, Charafeddine L, Tlays F and Yunis K

Relato de caso

Cerebellar Hypoplasıa as a Manıfestatıon of 6q25 Deletıon in a Preterm Newborn

• Demırel G, Vatansever B, Karavar H, Gundogdu S, Ertan G and Tastekın A

Relato de caso

Atypical Hypotonia-Cystinuria a New Case: Genotype-Phenotype, Description

• Preka Evgenia, Ariane Paoloni-Giacobino, Frédérique Sloan-Béna, Paloma Parvex and Alexandra Wilhelm-Bals

Relato de caso

Whole Exome Sequencing found a Novel Truncating Mutation within CNTNAP2 Gene in an Iranian Patient with Mental Retardation

• Mehrnoosh Shokoohi, Mohammadreza Hajjari, Javad Mohammadiasl J and Maryam Tahmasebi Birgani MT