Associated Papers
Clarification of undiagnosed ataxia using whole-exome sequencing with clinical implications.
Kim M et al.
Parkinsonism & Related Disorders, 2020
Pathogenic variants of DYNC2H1, KIAA0556, and PTPN11 associated with hypothalamic hamartoma.
Fujita A et al.
Neurology, 2019
Joubert Syndrome Presenting With Normal Pyramidal Decussation: A Case Report.
Kim NS et al.
Annals of Rehabilitation Medicine, 2017
Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes.
Bruel AL et al.
Journal of Medical Genetics, 2017
Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?
Romani M et al.
Human Genetics, 2015
C5orf42 is the major gene responsible for OFD syndrome type VI.
Lopez E et al.
Human Genetics, 2014
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