相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum
Valentina Serpieri et al.
JOURNAL OF MEDICAL GENETICS (2022)
AutoMap is a high performance homozygosity mapping tool using next-generation sequencing data
Mathieu Quinodoz et al.
NATURE COMMUNICATIONS (2021)
Novel compound heterozygous CPLANE1 variants identified in a Chinese family with Joubert syndrome
Cheng Zhang et al.
INTERNATIONAL JOURNAL OF DEVELOPMENTAL NEUROSCIENCE (2021)
Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center
Thierry Vilboux et al.
GENETICS IN MEDICINE (2017)
Neuroimaging findings in Joubert syndrome with C5orf42 gene mutations: A milder form of molar tooth sign and vermian hypoplasia
Mikako Enokizono et al.
JOURNAL OF THE NEUROLOGICAL SCIENCES (2017)
Genes and molecular pathways underpinning ciliopathies
Jeremy F. Reiter et al.
NATURE REVIEWS MOLECULAR CELL BIOLOGY (2017)
Joubert syndrome: genotyping a Northern European patient cohort
Hester Y. Kroes et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2016)
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity
R. Bachmann-Gagescu et al.
JOURNAL OF MEDICAL GENETICS (2015)
Mutations in C5ORF42 Cause Joubert Syndrome in the French Canadian Population
Myriam Srour et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2012)