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M McConnell

Showing results (451-460 of 456) with videos related to

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Biorxiv : the Preprint Server for Biology|November 28, 2023
MITF regulates IDH1 and NNT and drives a transcriptional program protecting cutaneous melanoma from reactive oxygen speciesElisabeth Roider, Alexandra I T Lakatos, Alicia M McConnell, et al.
Genome Research|December 28, 2018
Pathogenicity and selective constraint on variation near splice sitesJenny Lord, Giuseppe Gallone, Patrick J Short, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 28, 2026
Multimodal Genotype-Phenotype Analysis in SMARCB1-Associated Developmental DisordersRamy Saad, Clementina Cobolli Gigli, Pleuntje J van der Sluijs, et al.
Journal of Medical Genetics|February 2, 2018
Tumour risks and genotype-phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes <i>SDHB</i>, <i>SDHC</i> and <i>SDHD</i>Katrina A Andrews, David B Ascher, Douglas Eduardo Valente Pires, et al.
European Journal of Human Genetics : EJHG|December 1, 2011
How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrumSiddharth Banka, Ratna Veeramachaneni, William Reardon, et al.
Cell|July 7, 2021
NNT mediates redox-dependent pigmentation via a UVB- and MITF-independent mechanismJennifer Allouche, Inbal Rachmin, Kaustubh Adhikari, et al.
Pageof 46

Showing results (451-460 of 456) with videos related to

Sort By:
Pageof 46
You have reached the last page of results.This site can display upto 456 results.
Biorxiv : the Preprint Server for Biology|November 28, 2023
MITF regulates IDH1 and NNT and drives a transcriptional program protecting cutaneous melanoma from reactive oxygen speciesElisabeth Roider, Alexandra I T Lakatos, Alicia M McConnell, et al.
Genome Research|December 28, 2018
Pathogenicity and selective constraint on variation near splice sitesJenny Lord, Giuseppe Gallone, Patrick J Short, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 28, 2026
Multimodal Genotype-Phenotype Analysis in SMARCB1-Associated Developmental DisordersRamy Saad, Clementina Cobolli Gigli, Pleuntje J van der Sluijs, et al.
Journal of Medical Genetics|February 2, 2018
Tumour risks and genotype-phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes <i>SDHB</i>, <i>SDHC</i> and <i>SDHD</i>Katrina A Andrews, David B Ascher, Douglas Eduardo Valente Pires, et al.
European Journal of Human Genetics : EJHG|December 1, 2011
How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrumSiddharth Banka, Ratna Veeramachaneni, William Reardon, et al.
Cell|July 7, 2021
NNT mediates redox-dependent pigmentation via a UVB- and MITF-independent mechanismJennifer Allouche, Inbal Rachmin, Kaustubh Adhikari, et al.
Pageof 46