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Angus Clarke

Showing results (101-110 of 111) with videos related to

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European Journal of Human Genetics : EJHG|August 4, 2005
Dimensional phenotypic analysis and functional categorisation of mutations reveal novel genotype-phenotype associations in Rett syndromeTony Charman, Tracey C S Neilson, Veronica Mash, et al.
American Journal of Medical Genetics. Part A|March 15, 2016
Cerebro-costo-mandibular syndrome: Clinical, radiological, and genetic findingsMadeleine Tooley, Danielle Lynch, Francois Bernier, et al.
Human Mutation|March 15, 2012
Rett networked database: an integrated clinical and genetic network of Rett syndrome databasesElisa Grillo, Laurent Villard, Angus Clarke, et al.
European Journal of Human Genetics : EJHG|March 23, 2017
PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal featuresKaren J Low, Morad Ansari, Rami Abou Jamra, et al.
Epilepsia|March 20, 2015
Epilepsy in Rett syndrome--lessons from the Rett networked databaseAndreea Nissenkorn, Rachel S Levy-Drummer, Ori Bondi, et al.
BMC Medical Genetics|April 27, 2016
Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsyAndrew E Fry, Elliott Rees, Rose Thompson, et al.
Journal of Community Genetics|July 1, 2026
Rare disease genomics and justice: overview of a workshop at the Fondation Brocher, 22-24 January 2025Angus Clarke, Ruth Horn, Elena Avram, et al.
International Journal of Genomics|May 4, 2019
Analysis of the Phenotypes in the Rett Networked DatabaseElisa Frullanti, Filomena T Papa, Elisa Grillo, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 20, 2026
RNU4ATAC-opathy: Clinical, molecular and transcriptomic insights from a large cohortDena R Matalon, Angela L Duker, Taylor M Arriaga, et al.
HGG Advances|January 20, 2022
Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disordersMichael A Levy, Haley McConkey, Jennifer Kerkhof, et al.
Pageof 12

Showing results (101-110 of 111) with videos related to

Sort By:
Pageof 12
European Journal of Human Genetics : EJHG|August 4, 2005
Dimensional phenotypic analysis and functional categorisation of mutations reveal novel genotype-phenotype associations in Rett syndromeTony Charman, Tracey C S Neilson, Veronica Mash, et al.
American Journal of Medical Genetics. Part A|March 15, 2016
Cerebro-costo-mandibular syndrome: Clinical, radiological, and genetic findingsMadeleine Tooley, Danielle Lynch, Francois Bernier, et al.
Human Mutation|March 15, 2012
Rett networked database: an integrated clinical and genetic network of Rett syndrome databasesElisa Grillo, Laurent Villard, Angus Clarke, et al.
European Journal of Human Genetics : EJHG|March 23, 2017
PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal featuresKaren J Low, Morad Ansari, Rami Abou Jamra, et al.
Epilepsia|March 20, 2015
Epilepsy in Rett syndrome--lessons from the Rett networked databaseAndreea Nissenkorn, Rachel S Levy-Drummer, Ori Bondi, et al.
BMC Medical Genetics|April 27, 2016
Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsyAndrew E Fry, Elliott Rees, Rose Thompson, et al.
Journal of Community Genetics|July 1, 2026
Rare disease genomics and justice: overview of a workshop at the Fondation Brocher, 22-24 January 2025Angus Clarke, Ruth Horn, Elena Avram, et al.
International Journal of Genomics|May 4, 2019
Analysis of the Phenotypes in the Rett Networked DatabaseElisa Frullanti, Filomena T Papa, Elisa Grillo, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 20, 2026
RNU4ATAC-opathy: Clinical, molecular and transcriptomic insights from a large cohortDena R Matalon, Angela L Duker, Taylor M Arriaga, et al.
HGG Advances|January 20, 2022
Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disordersMichael A Levy, Haley McConkey, Jennifer Kerkhof, et al.
Pageof 12