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Andrew P Jackson

Showing results (131-140 of 145) with videos related to

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Nature Genetics|July 18, 2006
Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infectionYanick J Crow, Andrea Leitch, Bruce E Hayward, et al.
American Journal of Human Genetics|December 4, 2018
DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable ImmunodeficiencyClare V Logan, Jennie E Murray, David A Parry, et al.
American Journal of Medical Genetics. Part A|October 2, 2012
Meier-Gorlin syndrome: growth and secondary sexual development of a microcephalic primordial dwarfism disorderSonja A de Munnik, Barto J Otten, Jeroen Schoots, et al.
Nature Communications|November 5, 2022
Pathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidyLaura J Grange, John J Reynolds, Farid Ullah, et al.
American Journal of Human Genetics|July 31, 2018
Mutations in TOP3A Cause a Bloom Syndrome-like DisorderCarol-Anne Martin, Kata Sarlós, Clare V Logan, et al.
Nucleic Acids Research|November 13, 2013
The Human Phenotype Ontology project: linking molecular biology and disease through phenotype dataSebastian Köhler, Sandra C Doelken, Christopher J Mungall, et al.
American Journal of Human Genetics|May 3, 2024
Mutations in TOP3A Cause a Bloom Syndrome-like DisorderCarol-Anne Martin, Kata Sarlós, Clare V Logan, et al.
American Journal of Human Genetics|September 8, 2018
Mutations in TOP3A Cause a Bloom Syndrome-like DisorderCarol-Anne Martin, Kata Sarlós, Clare V Logan, et al.
Nature Genetics|November 24, 2020
cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processingCarolina Uggenti, Alice Lepelley, Marine Depp, et al.
Human Mutation|April 23, 2013
ANO5 gene analysis in a large cohort of patients with anoctaminopathy: confirmation of male prevalence and high occurrence of the common exon 5 gene mutationAnna Sarkozy, Debbie Hicks, Judith Hudson, et al.
Pageof 15

Showing results (131-140 of 145) with videos related to

Sort By:
Pageof 15
Nature Genetics|July 18, 2006
Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infectionYanick J Crow, Andrea Leitch, Bruce E Hayward, et al.
American Journal of Human Genetics|December 4, 2018
DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable ImmunodeficiencyClare V Logan, Jennie E Murray, David A Parry, et al.
American Journal of Medical Genetics. Part A|October 2, 2012
Meier-Gorlin syndrome: growth and secondary sexual development of a microcephalic primordial dwarfism disorderSonja A de Munnik, Barto J Otten, Jeroen Schoots, et al.
Nature Communications|November 5, 2022
Pathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidyLaura J Grange, John J Reynolds, Farid Ullah, et al.
American Journal of Human Genetics|July 31, 2018
Mutations in TOP3A Cause a Bloom Syndrome-like DisorderCarol-Anne Martin, Kata Sarlós, Clare V Logan, et al.
Nucleic Acids Research|November 13, 2013
The Human Phenotype Ontology project: linking molecular biology and disease through phenotype dataSebastian Köhler, Sandra C Doelken, Christopher J Mungall, et al.
American Journal of Human Genetics|May 3, 2024
Mutations in TOP3A Cause a Bloom Syndrome-like DisorderCarol-Anne Martin, Kata Sarlós, Clare V Logan, et al.
American Journal of Human Genetics|September 8, 2018
Mutations in TOP3A Cause a Bloom Syndrome-like DisorderCarol-Anne Martin, Kata Sarlós, Clare V Logan, et al.
Nature Genetics|November 24, 2020
cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processingCarolina Uggenti, Alice Lepelley, Marine Depp, et al.
Human Mutation|April 23, 2013
ANO5 gene analysis in a large cohort of patients with anoctaminopathy: confirmation of male prevalence and high occurrence of the common exon 5 gene mutationAnna Sarkozy, Debbie Hicks, Judith Hudson, et al.
Pageof 15