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Michelle K Demos

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American Journal of Medical Genetics. Part A|June 10, 2009
Clinical study of two brothers with a novel 33 bp duplication in the ARX geneMichelle K Demos, Tod Fullston, Michael W Partington, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|February 11, 2009
A novel KCNA1 mutation associated with global delay and persistent cerebellar dysfunctionMichelle K Demos, Vincenzo Macri, Kevin Farrell, et al.
Annals of Neurology|June 29, 2005
6-pyruvoyl-tetrahydropterin synthase deficiency with mild hyperphenylalaninemiaMichelle K Demos, Paula J Waters, Hilary D Vallance, et al.
Journal of Genetic Counseling|July 24, 2018
Assessing an Interactive Online Tool to Support Parents' Genomic Testing DecisionsShelin Adam, Patricia H Birch, Rachel R Coe, et al.
Orphanet Journal of Rare Diseases|January 29, 2014
A novel recurrent mutation in ATP1A3 causes CAPOS syndromeMichelle K Demos, Clara Dm van Karnebeek, Colin Jd Ross, et al.
American Journal of Medical Genetics. Part A|October 21, 2009
Characterization of a new X-linked mental retardation syndrome with microcephaly, cortical malformation, and thin habitusChristèle du Souich, Athena Chou, Jingyi Yin, et al.
Cold Spring Harbor Molecular Case Studies|October 26, 2021
Somatic mosaicism detected by genome-wide sequencing in 500 parent-child trios with suspected genetic disease: clinical and genetic counseling implicationsCourtney B Cook, Linlea Armstrong, Cornelius F Boerkoel, et al.
Research Square|August 23, 2023
Expanding the genotype-phenotype spectrum in SCN8A-related disordersMalavika Hebbar, Nawaf Al-Taweel, Inderpal Gill, et al.
BMC Neurology|January 17, 2024
Expanding the genotype-phenotype spectrum in SCN8A-related disordersMalavika Hebbar, Nawaf Al-Taweel, Inderpal Gill, et al.
American Journal of Human Genetics|December 26, 2017
Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental DisordersVíctor Faundes, William G Newman, Laura Bernardini, et al.
Pageof 2

Showing results (1-10 of 11) with videos related to

Sort By:
Pageof 2
American Journal of Medical Genetics. Part A|June 10, 2009
Clinical study of two brothers with a novel 33 bp duplication in the ARX geneMichelle K Demos, Tod Fullston, Michael W Partington, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|February 11, 2009
A novel KCNA1 mutation associated with global delay and persistent cerebellar dysfunctionMichelle K Demos, Vincenzo Macri, Kevin Farrell, et al.
Annals of Neurology|June 29, 2005
6-pyruvoyl-tetrahydropterin synthase deficiency with mild hyperphenylalaninemiaMichelle K Demos, Paula J Waters, Hilary D Vallance, et al.
Journal of Genetic Counseling|July 24, 2018
Assessing an Interactive Online Tool to Support Parents' Genomic Testing DecisionsShelin Adam, Patricia H Birch, Rachel R Coe, et al.
Orphanet Journal of Rare Diseases|January 29, 2014
A novel recurrent mutation in ATP1A3 causes CAPOS syndromeMichelle K Demos, Clara Dm van Karnebeek, Colin Jd Ross, et al.
American Journal of Medical Genetics. Part A|October 21, 2009
Characterization of a new X-linked mental retardation syndrome with microcephaly, cortical malformation, and thin habitusChristèle du Souich, Athena Chou, Jingyi Yin, et al.
Cold Spring Harbor Molecular Case Studies|October 26, 2021
Somatic mosaicism detected by genome-wide sequencing in 500 parent-child trios with suspected genetic disease: clinical and genetic counseling implicationsCourtney B Cook, Linlea Armstrong, Cornelius F Boerkoel, et al.
Research Square|August 23, 2023
Expanding the genotype-phenotype spectrum in SCN8A-related disordersMalavika Hebbar, Nawaf Al-Taweel, Inderpal Gill, et al.
BMC Neurology|January 17, 2024
Expanding the genotype-phenotype spectrum in SCN8A-related disordersMalavika Hebbar, Nawaf Al-Taweel, Inderpal Gill, et al.
American Journal of Human Genetics|December 26, 2017
Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental DisordersVíctor Faundes, William G Newman, Laura Bernardini, et al.
Pageof 2