Génétique héréditaire : recherche actuelle

article de recherche

Identification of Two Novel Mutations in the SLC45A2 Gene in a Hungarian Pedigree Affected by Unusual OCA Type 4

• Tóth L, Fábos B, Farkas K, Sulák A, Tripolszki K, Széll M and Nagy N

Communication courte

C.802C>T NOD2/CARD15 SNP is Associated to Crohn's Disease in Italian Patients

• Scudiero O, Nigro E, Monaco ML, Polito R, Capasso M, Canani BR, Castaldo G and Daniele A

Rapport de cas

A Girl with Greig Cephalopolysyndactyly Contiguous Gene Deletion Syndrome: The Importance and Usefulness of DNA Microarray Analysis

• Niida Yo, Ozaki M, Takase E, Yokoyama T and Yamada S

Rapport de cas

Lessons Learned from Two Missed Prenatal Cases of Hemoglobin Barts Hydrops Fetalis Until Second Trimester Despite a Nationwide Screening Program

• Wu WJ, Ma GC, Wu PC, Huang KS, Liu YL, Chang SP, Ginsberg NA and Chen M

Rapport d'enquête

Is there an Association between PLMS and Cardiovascular Disease?

• Kooblall M, Lane S and Moloney E

Article de révision

Altered Mitochondrial Function and Cystic Fibrosis

• Awasthi A, Prasad B and Kumar J

Eacute;ditorial

Curcumin and Cystic Fibrosis Defects: A Spicy Treatment

• Prasad S and Tyagi AK