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Adam C Shaw

Showing results (1-10 of 12) with videos related to

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European Journal of Medical Genetics|August 15, 2009
Interpreting humanity's genesAdam C Shaw, Raoul C M Hennekam
American Journal of Medical Genetics. Part A|March 23, 2012
The face in congenital melanocytic nevus syndromeVeronica Kinsler, Adam C Shaw, Johannes H Merks, et al.
Journal of Human Genetics|February 4, 2005
Genetic heterogeneity in LEOPARD syndrome: two families with no mutations in PTPN11Kamini Kalidas, Adam C Shaw, Andrew H Crosby, et al.
European Journal of Human Genetics : EJHG|February 15, 2024
Identification of people with Lynch syndrome from those presenting with colorectal cancer in England: baseline analysis of the diagnostic pathwayFiona E McRonald, Joanna Pethick, Francesco Santaniello, et al.
American Journal of Medical Genetics. Part A|October 16, 2010
Phenotype and natural history in Marshall-Smith syndromeAdam C Shaw, Inge D C van Balkom, Mislen Bauer, et al.
Human Mutation|June 14, 2014
Deletions in the 3' part of the NFIX gene including a recurrent Alu-mediated deletion of exon 6 and 7 account for previously unexplained cases of Marshall-Smith syndromeDenny Schanze, Dorothée Neubauer, Valerie Cormier-Daire, et al.
International Journal of Cancer|January 12, 2026
Outcomes from the English National Lynch Syndrome transformation projectKevin J Monahan, Paul Fleming, Neil A J Ryan, et al.
Human Genetics|October 18, 2002
Absence of PTPN11 mutations in 28 cases of cardiofaciocutaneous (CFC) syndromeAndra Ion, Marco Tartaglia, Xiaoling Song, et al.
American Journal of Human Genetics|August 3, 2010
Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndromeValérie Malan, Diana Rajan, Sophie Thomas, et al.
BMJ Oncology|January 31, 2025
The English National Lynch Syndrome transformation project: an NHS Genomic Medicine Service Alliance (GMSA) programmeKevin J Monahan, Neil Ryan, Laura Monje-Garcia, et al.
Pageof 2

Showing results (1-10 of 12) with videos related to

Sort By:
Pageof 2
European Journal of Medical Genetics|August 15, 2009
Interpreting humanity's genesAdam C Shaw, Raoul C M Hennekam
American Journal of Medical Genetics. Part A|March 23, 2012
The face in congenital melanocytic nevus syndromeVeronica Kinsler, Adam C Shaw, Johannes H Merks, et al.
Journal of Human Genetics|February 4, 2005
Genetic heterogeneity in LEOPARD syndrome: two families with no mutations in PTPN11Kamini Kalidas, Adam C Shaw, Andrew H Crosby, et al.
European Journal of Human Genetics : EJHG|February 15, 2024
Identification of people with Lynch syndrome from those presenting with colorectal cancer in England: baseline analysis of the diagnostic pathwayFiona E McRonald, Joanna Pethick, Francesco Santaniello, et al.
American Journal of Medical Genetics. Part A|October 16, 2010
Phenotype and natural history in Marshall-Smith syndromeAdam C Shaw, Inge D C van Balkom, Mislen Bauer, et al.
Human Mutation|June 14, 2014
Deletions in the 3' part of the NFIX gene including a recurrent Alu-mediated deletion of exon 6 and 7 account for previously unexplained cases of Marshall-Smith syndromeDenny Schanze, Dorothée Neubauer, Valerie Cormier-Daire, et al.
International Journal of Cancer|January 12, 2026
Outcomes from the English National Lynch Syndrome transformation projectKevin J Monahan, Paul Fleming, Neil A J Ryan, et al.
Human Genetics|October 18, 2002
Absence of PTPN11 mutations in 28 cases of cardiofaciocutaneous (CFC) syndromeAndra Ion, Marco Tartaglia, Xiaoling Song, et al.
American Journal of Human Genetics|August 3, 2010
Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndromeValérie Malan, Diana Rajan, Sophie Thomas, et al.
BMJ Oncology|January 31, 2025
The English National Lynch Syndrome transformation project: an NHS Genomic Medicine Service Alliance (GMSA) programmeKevin J Monahan, Neil Ryan, Laura Monje-Garcia, et al.
Pageof 2