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Showing results (531-540 of 550) with videos related to

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American Journal of Human Genetics|January 20, 2007
Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremorPatrick S Tarpey, F Lucy Raymond, Sarah O'Meara, et al.
Leukemia|January 13, 2019
TP53 mutation status divides myelodysplastic syndromes with complex karyotypes into distinct prognostic subgroupsDetlef Haase, Kristen E Stevenson, Donna Neuberg, et al.
American Journal of Medical Genetics. Part A|September 28, 2020
Rubinstein-Taybi syndrome in diverse populationsCedrik Tekendo-Ngongang, Babajide Owosela, Nicole Fleischer, et al.
Nature Genetics|August 21, 2007
Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardationPatrick S Tarpey, F Lucy Raymond, Lam S Nguyen, et al.
American Journal of Medical Genetics. Part A|January 8, 2019
Cornelia de Lange syndrome in diverse populationsLeah Dowsett, Antonio R Porras, Paul Kruszka, et al.
Toxicology and Applied Pharmacology|April 27, 2007
Biological stress response terminology: Integrating the concepts of adaptive response and preconditioning stress within a hormetic dose-response frameworkEdward J Calabrese, Kenneth A Bachmann, A John Bailer, et al.
Nature|March 27, 2025
The contribution of de novo coding mutations to meningomyeloceleYoo-Jin Jiny Ha, Ashna Nisal, Isaac Tang, et al.
American Journal of Human Genetics|February 29, 2020
Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental DisordersErfan Aref-Eshghi, Jennifer Kerkhof, Victor P Pedro, et al.
Science (New York, N.Y.)|May 2, 2024
Risk of meningomyelocele mediated by the common 22q11.2 deletionKeng Ioi Vong, Sangmoon Lee, Kit Sing Au, et al.
American Journal of Medical Genetics. Part A|July 28, 2017
Noonan syndrome in diverse populationsPaul Kruszka, Antonio R Porras, Yonit A Addissie, et al.
Pageof 55

Showing results (531-540 of 550) with videos related to

Sort By:
Pageof 55
American Journal of Human Genetics|January 20, 2007
Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremorPatrick S Tarpey, F Lucy Raymond, Sarah O'Meara, et al.
Leukemia|January 13, 2019
TP53 mutation status divides myelodysplastic syndromes with complex karyotypes into distinct prognostic subgroupsDetlef Haase, Kristen E Stevenson, Donna Neuberg, et al.
American Journal of Medical Genetics. Part A|September 28, 2020
Rubinstein-Taybi syndrome in diverse populationsCedrik Tekendo-Ngongang, Babajide Owosela, Nicole Fleischer, et al.
Nature Genetics|August 21, 2007
Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardationPatrick S Tarpey, F Lucy Raymond, Lam S Nguyen, et al.
American Journal of Medical Genetics. Part A|January 8, 2019
Cornelia de Lange syndrome in diverse populationsLeah Dowsett, Antonio R Porras, Paul Kruszka, et al.
Toxicology and Applied Pharmacology|April 27, 2007
Biological stress response terminology: Integrating the concepts of adaptive response and preconditioning stress within a hormetic dose-response frameworkEdward J Calabrese, Kenneth A Bachmann, A John Bailer, et al.
Nature|March 27, 2025
The contribution of de novo coding mutations to meningomyeloceleYoo-Jin Jiny Ha, Ashna Nisal, Isaac Tang, et al.
American Journal of Human Genetics|February 29, 2020
Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental DisordersErfan Aref-Eshghi, Jennifer Kerkhof, Victor P Pedro, et al.
Science (New York, N.Y.)|May 2, 2024
Risk of meningomyelocele mediated by the common 22q11.2 deletionKeng Ioi Vong, Sangmoon Lee, Kit Sing Au, et al.
American Journal of Medical Genetics. Part A|July 28, 2017
Noonan syndrome in diverse populationsPaul Kruszka, Antonio R Porras, Yonit A Addissie, et al.
Pageof 55