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Showing results (61-70 of 92) with videos related to

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Human Genetics|August 2, 2021
New insights into Perrault syndrome, a clinically and genetically heterogeneous disorderRabia Faridi, Alessandro Rea, Cristina Fenollar-Ferrer, et al.
Human Molecular Genetics|July 16, 2019
Disease modeling of core pre-mRNA splicing factor haploinsufficiencyKatherine A Wood, Charlie F Rowlands, Wasay Mohiuddin Shaikh Qureshi, et al.
Brain : a Journal of Neurology|July 24, 2022
Bi-allelic FRA10AC1 variants in a multisystem human syndromeSiddharth Banka, Stavit Shalev, Soo-Mi Park, et al.
Human Mutation|April 26, 2020
EFTUD2 missense variants disrupt protein function and splicing in mandibulofacial dysostosis Guion-Almeida typeHuw B Thomas, Katherine A Wood, Weronika A Buczek, et al.
Plos Genetics|March 13, 2018
Large-scale profiling of noncoding RNA function in yeastSteven Parker, Marcin G Fraczek, Jian Wu, et al.
Clinical Genetics|August 24, 2019
A homozygous missense variant in CHRM3 associated with familial urinary bladder diseaseGlenda M Beaman, Gabriella Galatà, Keng W Teik, et al.
Oral Diseases|July 30, 2016
Distribution and factors associated with salivary secretory leukocyte protease inhibitor concentrationsS Rahman, C M Pierce Campbell, B N Torres, et al.
American Journal of Human Genetics|January 23, 2022
MRSD: A quantitative approach for assessing suitability of RNA-seq in the investigation of mis-splicing in Mendelian diseaseCharlie F Rowlands, Algy Taylor, Gillian Rice, et al.
Neurogenetics|March 2, 2026
Expanding the genotypic spectrum of combined oxidative phosphorylation deficiency 54King Lam Lai, Thomas B Smith, Reza Maroofian, et al.
European Journal of Human Genetics : EJHG|August 9, 2023
Novel homozygous variants in PRORP expand the genotypic spectrum of combined oxidative phosphorylation deficiency 54Thomas B Smith, Alessandro Rea, Huw B Thomas, et al.
Pageof 10

Showing results (61-70 of 92) with videos related to

Sort By:
Pageof 10
Human Genetics|August 2, 2021
New insights into Perrault syndrome, a clinically and genetically heterogeneous disorderRabia Faridi, Alessandro Rea, Cristina Fenollar-Ferrer, et al.
Human Molecular Genetics|July 16, 2019
Disease modeling of core pre-mRNA splicing factor haploinsufficiencyKatherine A Wood, Charlie F Rowlands, Wasay Mohiuddin Shaikh Qureshi, et al.
Brain : a Journal of Neurology|July 24, 2022
Bi-allelic FRA10AC1 variants in a multisystem human syndromeSiddharth Banka, Stavit Shalev, Soo-Mi Park, et al.
Human Mutation|April 26, 2020
EFTUD2 missense variants disrupt protein function and splicing in mandibulofacial dysostosis Guion-Almeida typeHuw B Thomas, Katherine A Wood, Weronika A Buczek, et al.
Plos Genetics|March 13, 2018
Large-scale profiling of noncoding RNA function in yeastSteven Parker, Marcin G Fraczek, Jian Wu, et al.
Clinical Genetics|August 24, 2019
A homozygous missense variant in CHRM3 associated with familial urinary bladder diseaseGlenda M Beaman, Gabriella Galatà, Keng W Teik, et al.
Oral Diseases|July 30, 2016
Distribution and factors associated with salivary secretory leukocyte protease inhibitor concentrationsS Rahman, C M Pierce Campbell, B N Torres, et al.
American Journal of Human Genetics|January 23, 2022
MRSD: A quantitative approach for assessing suitability of RNA-seq in the investigation of mis-splicing in Mendelian diseaseCharlie F Rowlands, Algy Taylor, Gillian Rice, et al.
Neurogenetics|March 2, 2026
Expanding the genotypic spectrum of combined oxidative phosphorylation deficiency 54King Lam Lai, Thomas B Smith, Reza Maroofian, et al.
European Journal of Human Genetics : EJHG|August 9, 2023
Novel homozygous variants in PRORP expand the genotypic spectrum of combined oxidative phosphorylation deficiency 54Thomas B Smith, Alessandro Rea, Huw B Thomas, et al.
Pageof 10