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R Sean Hill

Showing results (11-20 of 39) with videos related to

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Scientific Reports|August 22, 2020
Homozygous deletions implicate non-coding epigenetic marks in Autism spectrum disorderKlaus Schmitz-Abe, Guzman Sanchez-Schmitz, Ryan N Doan, et al.
American Journal of Human Genetics|May 3, 2011
Human mutations in NDE1 cause extreme microcephaly with lissencephaly [corrected]Fowzan S Alkuraya, Xuyu Cai, Carina Emery, et al.
American Journal of Human Genetics|November 27, 2010
A homozygous mutation in the tight-junction protein JAM3 causes hemorrhagic destruction of the brain, subependymal calcification, and congenital cataractsGaneshwaran H Mochida, Vijay S Ganesh, Jillian M Felie, et al.
Neurology|October 1, 2013
Deletions in GRID2 lead to a recessive syndrome of cerebellar ataxia and tonic upgaze in humansL Benjamin Hills, Amira Masri, Kotaro Konno, et al.
Science (New York, N.Y.)|March 27, 2004
G protein-coupled receptor-dependent development of human frontal cortexXianhua Piao, R Sean Hill, Adria Bodell, et al.
Epilepsia|January 19, 2006
Mutation in filamin A causes periventricular heterotopia, developmental regression, and West syndrome in malesMarcelo R Masruha, Luis O S F Caboclo, Henrique Carrete, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|November 14, 2018
PSMD12 haploinsufficiency in a neurodevelopmental disorder with autistic featuresRaida Khalil, Connor Kenny, R Sean Hill, et al.
Nature Genetics|February 2, 2010
Mutations in PNKP cause microcephaly, seizures and defects in DNA repairJun Shen, Edward C Gilmore, Christine A Marshall, et al.
Human Mutation|August 30, 2008
Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle EastM Chiara Manzini, Danielle Gleason, Bernard S Chang, et al.
Neuron|April 17, 2012
Somatic activation of AKT3 causes hemispheric developmental brain malformationsAnnapurna Poduri, Gilad D Evrony, Xuyu Cai, et al.
Pageof 4

Showing results (11-20 of 39) with videos related to

Sort By:
Pageof 4
Scientific Reports|August 22, 2020
Homozygous deletions implicate non-coding epigenetic marks in Autism spectrum disorderKlaus Schmitz-Abe, Guzman Sanchez-Schmitz, Ryan N Doan, et al.
American Journal of Human Genetics|May 3, 2011
Human mutations in NDE1 cause extreme microcephaly with lissencephaly [corrected]Fowzan S Alkuraya, Xuyu Cai, Carina Emery, et al.
American Journal of Human Genetics|November 27, 2010
A homozygous mutation in the tight-junction protein JAM3 causes hemorrhagic destruction of the brain, subependymal calcification, and congenital cataractsGaneshwaran H Mochida, Vijay S Ganesh, Jillian M Felie, et al.
Neurology|October 1, 2013
Deletions in GRID2 lead to a recessive syndrome of cerebellar ataxia and tonic upgaze in humansL Benjamin Hills, Amira Masri, Kotaro Konno, et al.
Science (New York, N.Y.)|March 27, 2004
G protein-coupled receptor-dependent development of human frontal cortexXianhua Piao, R Sean Hill, Adria Bodell, et al.
Epilepsia|January 19, 2006
Mutation in filamin A causes periventricular heterotopia, developmental regression, and West syndrome in malesMarcelo R Masruha, Luis O S F Caboclo, Henrique Carrete, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|November 14, 2018
PSMD12 haploinsufficiency in a neurodevelopmental disorder with autistic featuresRaida Khalil, Connor Kenny, R Sean Hill, et al.
Nature Genetics|February 2, 2010
Mutations in PNKP cause microcephaly, seizures and defects in DNA repairJun Shen, Edward C Gilmore, Christine A Marshall, et al.
Human Mutation|August 30, 2008
Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle EastM Chiara Manzini, Danielle Gleason, Bernard S Chang, et al.
Neuron|April 17, 2012
Somatic activation of AKT3 causes hemispheric developmental brain malformationsAnnapurna Poduri, Gilad D Evrony, Xuyu Cai, et al.
Pageof 4