Results 131 to 140 of about 59,618 (233)

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias. [PDF]

open access: yesAm J Hum Genet, 2018
Helbig KL   +105 more
europepmc   +1 more source

Impact of severe polyhandicap on parents' quality of life: A large French cross-sectional study. [PDF]

open access: yesPLoS One, 2019
Rousseau MC   +9 more
europepmc   +1 more source

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