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Human Mutation
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March 25, 2009
Genetic and epigenetic analysis of recurrent hydatidiform mole
Bruce E Hayward, Michel De Vos, Nargese Talati, et al.
Brain : a Journal of Neurology
|
November 25, 2015
The clinical and genetic heterogeneity of paroxysmal dyskinesias
Alice R Gardiner, Fatima Jaffer, Russell C Dale, et al.
Developmental Medicine and Child Neurology
|
February 1, 2013
Clinical features of childhood-onset paroxysmal kinesigenic dyskinesia with PRRT2 gene mutations
Laura Silveira-Moriyama, Alice R Gardiner, Esther Meyer, et al.
Developmental Medicine and Child Neurology
|
November 1, 2013
Benign hereditary chorea related to NKX2.1: expansion of the genotypic and phenotypic spectrum
Kathryn J Peall, Daniel Lumsden, Rachel Kneen, et al.
The Journal of Clinical Investigation
|
May 30, 2009
Homozygous loss-of-function mutations in the gene encoding the dopamine transporter are associated with infantile parkinsonism-dystonia
Manju A Kurian, Juan Zhen, Shu-Yuan Cheng, et al.
Annals of Neurology
|
September 13, 2025
Clinical and Molecular Genetic Characterization of Landau Kleffner Syndrome: An Observational Cohort and Experimental Study
Adeline Ngoh, Maria Clark, Rebecca Greenaway, et al.
Brain : a Journal of Neurology
|
September 14, 2010
Phospholipase C beta 1 deficiency is associated with early-onset epileptic encephalopathy
Manju A Kurian, Esther Meyer, Grace Vassallo, et al.
American Journal of Human Genetics
|
March 9, 2010
Mutations in FLVCR2 are associated with proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (Fowler syndrome)
Esther Meyer, Christopher Ricketts, Neil V Morgan, et al.
Brain : a Journal of Neurology
|
March 12, 2014
Dopamine transporter deficiency syndrome: phenotypic spectrum from infancy to adulthood
Joanne Ng, Juan Zhen, Esther Meyer, et al.
Brain : a Journal of Neurology
|
April 20, 2013
Migrating partial seizures of infancy: expansion of the electroclinical, radiological and pathological disease spectrum
Amy McTague, Richard Appleton, Shivaram Avula, et al.
Page
of 7
Search research articles
Search
Showing results (31-40 of 61) with videos related to
Sort By:
Page
of 7
Human Mutation
|
March 25, 2009
Genetic and epigenetic analysis of recurrent hydatidiform mole
Bruce E Hayward, Michel De Vos, Nargese Talati, et al.
Brain : a Journal of Neurology
|
November 25, 2015
The clinical and genetic heterogeneity of paroxysmal dyskinesias
Alice R Gardiner, Fatima Jaffer, Russell C Dale, et al.
Developmental Medicine and Child Neurology
|
February 1, 2013
Clinical features of childhood-onset paroxysmal kinesigenic dyskinesia with PRRT2 gene mutations
Laura Silveira-Moriyama, Alice R Gardiner, Esther Meyer, et al.
Developmental Medicine and Child Neurology
|
November 1, 2013
Benign hereditary chorea related to NKX2.1: expansion of the genotypic and phenotypic spectrum
Kathryn J Peall, Daniel Lumsden, Rachel Kneen, et al.
The Journal of Clinical Investigation
|
May 30, 2009
Homozygous loss-of-function mutations in the gene encoding the dopamine transporter are associated with infantile parkinsonism-dystonia
Manju A Kurian, Juan Zhen, Shu-Yuan Cheng, et al.
Annals of Neurology
|
September 13, 2025
Clinical and Molecular Genetic Characterization of Landau Kleffner Syndrome: An Observational Cohort and Experimental Study
Adeline Ngoh, Maria Clark, Rebecca Greenaway, et al.
Brain : a Journal of Neurology
|
September 14, 2010
Phospholipase C beta 1 deficiency is associated with early-onset epileptic encephalopathy
Manju A Kurian, Esther Meyer, Grace Vassallo, et al.
American Journal of Human Genetics
|
March 9, 2010
Mutations in FLVCR2 are associated with proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (Fowler syndrome)
Esther Meyer, Christopher Ricketts, Neil V Morgan, et al.
Brain : a Journal of Neurology
|
March 12, 2014
Dopamine transporter deficiency syndrome: phenotypic spectrum from infancy to adulthood
Joanne Ng, Juan Zhen, Esther Meyer, et al.
Brain : a Journal of Neurology
|
April 20, 2013
Migrating partial seizures of infancy: expansion of the electroclinical, radiological and pathological disease spectrum
Amy McTague, Richard Appleton, Shivaram Avula, et al.
Page
of 7