Results 131 to 140 of about 17,178 (225)

A Novel De Novo Gain-of-Function <i>CACNA1D</i> Variant in Neurodevelopmental Disease With Congenital Tremor, Seizures, and Hypotonia. [PDF]

open access: yesNeurol Genet
Dannenberg F   +13 more
europepmc   +1 more source

Homozygous Pathogenic MYH3 Variants Associated With Arthrogryposis and Lingual Dystonia. [PDF]

open access: yesTremor Other Hyperkinet Mov (N Y)
Mouraux C   +7 more
europepmc   +1 more source

A case of neonatal essential tongue tremor diagnosed due to poor feeding. [PDF]

open access: yesSAGE Open Med Case Rep
Sasai M   +6 more
europepmc   +1 more source

The Silence of Neurosyphilis [PDF]

open access: yes, 2011
Masri, Karim R   +2 more
core   +2 more sources

Expanding the spectrum of <i>NUS1</i>-related progressive myoclonic epilepsy: a novel variant and exploratory use of metformin. [PDF]

open access: yesFront Genet
Sau C   +9 more
europepmc   +1 more source

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