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J L Knight

Showing results (61-70 of 108) with videos related to

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Cancers|December 5, 2019
Identification of Circulating Genomic and Metabolic Biomarkers in Intrahepatic CholangiocarcinomaHelen Winter, Pamela J Kaisaki, Joe Harvey, et al.
Pediatrics|July 21, 2010
Prevalence and complications of single-gene and chromosomal disorders in craniosynostosisAndrew O M Wilkie, Jo C Byren, Jane A Hurst, et al.
Human Molecular Genetics|April 10, 2015
Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposisAlistair T Pagnamenta, Malcolm F Howard, Eva Wisniewski, et al.
European Journal of Human Genetics : EJHG|December 4, 2008
A 15q13.3 microdeletion segregating with autismAlistair T Pagnamenta, Kirsty Wing, Elham Sadighi Akha, et al.
Plos One|June 23, 2011
Genomic imbalances are confined to non-proliferating cells in paediatric patients with acute myeloid leukaemia and a normal or incomplete karyotypeErica Ballabio, Regina Regan, Elisa Garimberti, et al.
International Journal of Cancer|June 10, 2009
Mutations of NFKBIA, encoding IkappaB alpha, are a recurrent finding in classical Hodgkin lymphoma but are not a unifying feature of non-EBV-associated casesAnnette Lake, Lesley A Shield, Pablo Cordano, et al.
Scientific Reports|March 20, 2021
Short and long-read genome sequencing methodologies for somatic variant detection; genomic analysis of a patient with diffuse large B-cell lymphomaHannah E Roberts, Maria Lopopolo, Alistair T Pagnamenta, et al.
American Journal of Medical Genetics. Part A|August 14, 2012
A novel nonsense CDK5RAP2 mutation in a Somali child with primary microcephaly and sensorineural hearing lossAlistair T Pagnamenta, Jennie E Murray, Grace Yoon, et al.
European Journal of Human Genetics : EJHG|January 31, 2013
Molecular and clinical delineation of the 17q22 microdeletion phenotypeTobias Laurell, Johanna Lundin, Britt-Marie Anderlid, et al.
Journal of Human Genetics|December 2, 2011
Exome sequencing can detect pathogenic mosaic mutations present at low allele frequenciesAlistair T Pagnamenta, Stefano Lise, Victoria Harrison, et al.
Pageof 11

Showing results (61-70 of 108) with videos related to

Sort By:
Pageof 11
Cancers|December 5, 2019
Identification of Circulating Genomic and Metabolic Biomarkers in Intrahepatic CholangiocarcinomaHelen Winter, Pamela J Kaisaki, Joe Harvey, et al.
Pediatrics|July 21, 2010
Prevalence and complications of single-gene and chromosomal disorders in craniosynostosisAndrew O M Wilkie, Jo C Byren, Jane A Hurst, et al.
Human Molecular Genetics|April 10, 2015
Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposisAlistair T Pagnamenta, Malcolm F Howard, Eva Wisniewski, et al.
European Journal of Human Genetics : EJHG|December 4, 2008
A 15q13.3 microdeletion segregating with autismAlistair T Pagnamenta, Kirsty Wing, Elham Sadighi Akha, et al.
Plos One|June 23, 2011
Genomic imbalances are confined to non-proliferating cells in paediatric patients with acute myeloid leukaemia and a normal or incomplete karyotypeErica Ballabio, Regina Regan, Elisa Garimberti, et al.
International Journal of Cancer|June 10, 2009
Mutations of NFKBIA, encoding IkappaB alpha, are a recurrent finding in classical Hodgkin lymphoma but are not a unifying feature of non-EBV-associated casesAnnette Lake, Lesley A Shield, Pablo Cordano, et al.
Scientific Reports|March 20, 2021
Short and long-read genome sequencing methodologies for somatic variant detection; genomic analysis of a patient with diffuse large B-cell lymphomaHannah E Roberts, Maria Lopopolo, Alistair T Pagnamenta, et al.
American Journal of Medical Genetics. Part A|August 14, 2012
A novel nonsense CDK5RAP2 mutation in a Somali child with primary microcephaly and sensorineural hearing lossAlistair T Pagnamenta, Jennie E Murray, Grace Yoon, et al.
European Journal of Human Genetics : EJHG|January 31, 2013
Molecular and clinical delineation of the 17q22 microdeletion phenotypeTobias Laurell, Johanna Lundin, Britt-Marie Anderlid, et al.
Journal of Human Genetics|December 2, 2011
Exome sequencing can detect pathogenic mosaic mutations present at low allele frequenciesAlistair T Pagnamenta, Stefano Lise, Victoria Harrison, et al.
Pageof 11