Associated Papers
Identification of two novel pathogenic variants of PIBF1 by whole exome sequencing in a 2-year-old boy with Joubert syndrome.
Shen Y et al.
Bmc Medical Genetics, 2020
The Frog Xenopus as a Model to Study Joubert Syndrome: The Case of a Human Patient With Compound Heterozygous Variants in PIBF1.
Ott T et al.
Frontiers in Physiology, 2019
Impact of clinical exomes in neurodevelopmental and neurometabolic disorders.
Evers C et al.
Molecular Genetics and Metabolism, 2017
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