Thierry Vilboux

发表

Automated, high-throughput derivation, characterization and differentiation of induced pluripotent stem cells

Alexander Meissner, Kevin Eggan, William A Gahl, 2015, Nature Methods.

Homozygosity Mapping and Whole Exome Sequencing to Detect SLC45A2 and G6PC3 Mutations in a Single Patient with Oculocutaneous Albinism and Neutropenia

Carla Ciccone, William A. Gahl, Marjan Huizing, 2011, The Journal of investigative dermatology.

Mutation in an alternative transcript of CDKL5 in a boy with early-onset seizures

Alina Khromykh, Thierry Vilboux, N. Hauser, 2018, Cold Spring Harbor molecular case studies.

1,25-(OH)2D-24 Hydroxylase (CYP24A1) Deficiency as a Cause of Nephrolithiasis.

William A Gahl, Carla Ciccone, Marjan Huizing, 2013, Clinical journal of the American Society of Nephrology : CJASN.