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Emma L Baple

Showing results (11-20 of 93) with videos related to

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Data in Brief|November 2, 2020
Datasets of whole cell and mitochondrial oxysterols derived from THP-1, SH-SY5Y and human peripheral blood mononuclear cells using targeted metabolomicsKhushboo Borah, Olivia J Rickman, Nikol Voutsina, et al.
European Journal of Human Genetics : EJHG|July 2, 2026
Characterisation of the SMN1/2 locus using a highly specific variant caller on whole-genome sequence data from 500,000 individualsTimothy S Hall, Robin N Beaumont, James Fasham, et al.
Clinical Endocrinology|February 20, 2018
Pregnancy on vandetanib in metastatic medullary thyroid carcinoma associated with multiple endocrine neoplasia type 2BNicholas Thomas, John Glod, Claudia Derse-Anthony, et al.
BMC Medical Genetics|August 25, 2019
Novel nonsense variants in SLURP1 and DSG1 cause palmoplantar keratoderma in Pakistani familiesAbida Akbar, Claire Prince, Chloe Payne, et al.
European Journal of Human Genetics : EJHG|January 6, 2011
An atypical case of hypomethylation at multiple imprinted lociEmma L Baple, Rebecca L Poole, Sahar Mansour, et al.
Nature Medicine|June 19, 2024
Exploring the benefits, harms and costs of genomic newborn screening for rare diseasesEmma L Baple, Richard H Scott, Siddharth Banka, et al.
DNA Repair|January 12, 2017
PCNA dependent cellular activities tolerate dramatic perturbations in PCNA client interactionsRosemary H C Wilson, Antonio J Biasutto, Lihao Wang, et al.
Redox Biology|June 24, 2020
A quantitative LC-MS/MS method for analysis of mitochondrial -specific oxysterol metabolismKhushboo Borah, Olivia J Rickman, Nikol Voutsina, et al.
Molecular Genetics and Metabolism|October 31, 2020
Biochemical phenotype and its relationship to treatment in 16 individuals with PCCB c.1606A > G (p.Asn536Asp) variant propionic acidemiaOlivia Wenger, Miraides Brown, Brandon Smith, et al.
BMC Medical Genetics|February 21, 2018
Identification of novel L2HGDH mutation in a large consanguineous Pakistani family- a case reportMuhammad Ikram Ullah, Abdul Nasir, Arsalan Ahmad, et al.
Pageof 10

Showing results (11-20 of 93) with videos related to

Sort By:
Pageof 10
Data in Brief|November 2, 2020
Datasets of whole cell and mitochondrial oxysterols derived from THP-1, SH-SY5Y and human peripheral blood mononuclear cells using targeted metabolomicsKhushboo Borah, Olivia J Rickman, Nikol Voutsina, et al.
European Journal of Human Genetics : EJHG|July 2, 2026
Characterisation of the SMN1/2 locus using a highly specific variant caller on whole-genome sequence data from 500,000 individualsTimothy S Hall, Robin N Beaumont, James Fasham, et al.
Clinical Endocrinology|February 20, 2018
Pregnancy on vandetanib in metastatic medullary thyroid carcinoma associated with multiple endocrine neoplasia type 2BNicholas Thomas, John Glod, Claudia Derse-Anthony, et al.
BMC Medical Genetics|August 25, 2019
Novel nonsense variants in SLURP1 and DSG1 cause palmoplantar keratoderma in Pakistani familiesAbida Akbar, Claire Prince, Chloe Payne, et al.
European Journal of Human Genetics : EJHG|January 6, 2011
An atypical case of hypomethylation at multiple imprinted lociEmma L Baple, Rebecca L Poole, Sahar Mansour, et al.
Nature Medicine|June 19, 2024
Exploring the benefits, harms and costs of genomic newborn screening for rare diseasesEmma L Baple, Richard H Scott, Siddharth Banka, et al.
DNA Repair|January 12, 2017
PCNA dependent cellular activities tolerate dramatic perturbations in PCNA client interactionsRosemary H C Wilson, Antonio J Biasutto, Lihao Wang, et al.
Redox Biology|June 24, 2020
A quantitative LC-MS/MS method for analysis of mitochondrial -specific oxysterol metabolismKhushboo Borah, Olivia J Rickman, Nikol Voutsina, et al.
Molecular Genetics and Metabolism|October 31, 2020
Biochemical phenotype and its relationship to treatment in 16 individuals with PCCB c.1606A > G (p.Asn536Asp) variant propionic acidemiaOlivia Wenger, Miraides Brown, Brandon Smith, et al.
BMC Medical Genetics|February 21, 2018
Identification of novel L2HGDH mutation in a large consanguineous Pakistani family- a case reportMuhammad Ikram Ullah, Abdul Nasir, Arsalan Ahmad, et al.
Pageof 10