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Jenifer P Suntharalingham

Showing results (11-20 of 22) with videos related to

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Journal of the Endocrine Society|November 21, 2019
Next-Generation Sequencing Reveals Novel Genetic Variants (SRY, DMRT1, NR5A1, DHH, DHX37) in Adults With 46,XY DSDFederica Buonocore, Oliver Clifford-Mobley, Tom F J King, et al.
Scientific Reports|May 6, 2025
Mapping the anatomical and transcriptional landscape of early human fetal ovary developmentSinead M McGlacken-Byrne, Ignacio Del Valle, Theodoros Xenakis, et al.
JCI Insight|July 13, 2023
An integrated single-cell analysis of human adrenal cortex developmentIgnacio Del Valle, Matthew D Young, Gerda Kildisiute, et al.
Communications Biology|February 16, 2025
The transcriptomic landscape of monosomy X (45,X) during early human fetal and placental developmentJenifer P Suntharalingham, Ignacio Del Valle, Federica Buonocore, et al.
Human Molecular Genetics|July 6, 2016
A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex developmentAnu Bashamboo, Patricia A Donohoue, Eric Vilain, et al.
Human Molecular Genetics|December 30, 2016
A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex developmentAnu Bashamboo, Patricia A Donohoue, Eric Vilain, et al.
JCI Insight|February 9, 2022
Pathogenic variants in the human m6A reader YTHDC2 are associated with primary ovarian insufficiencySinéad M McGlacken-Byrne, Ignacio Del Valle, Polona Le Quesne Stabej, et al.
The Journal of Clinical Investigation|March 28, 2017
Somatic mutations and progressive monosomy modify SAMD9-related phenotypes in humansFederica Buonocore, Peter Kühnen, Jenifer P Suntharalingham, et al.
The Journal of Clinical Endocrinology and Metabolism|November 3, 2015
Rare Causes of Primary Adrenal Insufficiency: Genetic and Clinical Characterization of a Large Nationwide CohortTulay Guran, Federica Buonocore, Nurcin Saka, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
Pathogenic variants in RNPC3 are associated with hypopituitarism and primary ovarian insufficiencyLeyla Akin, Karine Rizzoti, Louise C Gregory, et al.
Pageof 3

Showing results (11-20 of 22) with videos related to

Sort By:
Pageof 3
Journal of the Endocrine Society|November 21, 2019
Next-Generation Sequencing Reveals Novel Genetic Variants (SRY, DMRT1, NR5A1, DHH, DHX37) in Adults With 46,XY DSDFederica Buonocore, Oliver Clifford-Mobley, Tom F J King, et al.
Scientific Reports|May 6, 2025
Mapping the anatomical and transcriptional landscape of early human fetal ovary developmentSinead M McGlacken-Byrne, Ignacio Del Valle, Theodoros Xenakis, et al.
JCI Insight|July 13, 2023
An integrated single-cell analysis of human adrenal cortex developmentIgnacio Del Valle, Matthew D Young, Gerda Kildisiute, et al.
Communications Biology|February 16, 2025
The transcriptomic landscape of monosomy X (45,X) during early human fetal and placental developmentJenifer P Suntharalingham, Ignacio Del Valle, Federica Buonocore, et al.
Human Molecular Genetics|July 6, 2016
A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex developmentAnu Bashamboo, Patricia A Donohoue, Eric Vilain, et al.
Human Molecular Genetics|December 30, 2016
A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex developmentAnu Bashamboo, Patricia A Donohoue, Eric Vilain, et al.
JCI Insight|February 9, 2022
Pathogenic variants in the human m6A reader YTHDC2 are associated with primary ovarian insufficiencySinéad M McGlacken-Byrne, Ignacio Del Valle, Polona Le Quesne Stabej, et al.
The Journal of Clinical Investigation|March 28, 2017
Somatic mutations and progressive monosomy modify SAMD9-related phenotypes in humansFederica Buonocore, Peter Kühnen, Jenifer P Suntharalingham, et al.
The Journal of Clinical Endocrinology and Metabolism|November 3, 2015
Rare Causes of Primary Adrenal Insufficiency: Genetic and Clinical Characterization of a Large Nationwide CohortTulay Guran, Federica Buonocore, Nurcin Saka, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
Pathogenic variants in RNPC3 are associated with hypopituitarism and primary ovarian insufficiencyLeyla Akin, Karine Rizzoti, Louise C Gregory, et al.
Pageof 3