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Understanding the relationship between freezing of gait and other progressive supranuclear palsy features.
Torticollis
Child Health
Corpus Callosum
De novo variants in CDKL1 and CDKL2 are associated with neurodevelopmental symptoms.
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De novo variants in CDKL1 and CDKL2 are associated with neurodevelopmental symptoms.
De novo variants in CDKL1 and CDKL2 are associated with neurodevelopmental symptoms. Am J Hum Genet. 2025 Apr 03; 112(4):846-862.
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PubMed
subject areas
Animals
Child
Child, Preschool
Developmental Disabilities
Female
Humans
Infant
Intellectual Disability
Male
Mutation, Missense
Neurodevelopmental Disorders
Pedigree
Phenotype
authors with profiles
SHINYA YAMAMOTO
Jonathan Andrews
MICHAEL WANGLER
HUGO BELLEN
OGUZ KANCA