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Eric Vilain

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Food and Chemical Toxicology : an International Journal Published for the British Industrial Biological Research Association|December 9, 2020
Motor control and cognition deficits associated with protein carbamoylation in food (cassava) cyanogenic poisoning: Neurodegeneration and genomic perspectivesF A Rwatambuga, E R Ali, M S Bramble, et al.
European Journal of Medical Genetics|June 23, 2021
Facial analysis technology for the detection of Down syndrome in the Democratic Republic of the CongoAntonio R Porras, Matthew S Bramble, Kizito Mosema Be Amoti, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 22, 2017
Is it time to retire fragile X testing as a first-tier test for developmental delay, intellectual disability, and autism spectrum disorder?Sureni V Mullegama, Steven D Klein, Dzung C Nguyen, et al.
Clinical Genetics|May 17, 2023
Increased diagnostic yield from negative whole genome-slice panels using automated reanalysisSeth I Berger, Georgia Pitsava, Andrea J Cohen, et al.
American Journal of Human Genetics|March 3, 2015
De novo nonsense mutations in KAT6A, a lysine acetyl-transferase gene, cause a syndrome including microcephaly and global developmental delayValerie A Arboleda, Hane Lee, Naghmeh Dorrani, et al.
The Journal of Clinical Investigation|December 25, 2010
Identification of SOX3 as an XX male sex reversal gene in mice and humansEdwina Sutton, James Hughes, Stefan White, et al.
Medrxiv : the Preprint Server for Health Sciences|February 24, 2025
Long-read sequencing resolves the clinically relevant <i>CYP21A2</i> locus, supporting a new clinical test for Congenital Adrenal HyperplasiaJean Monlong, Xiao Chen, Hayk Barseghyan, et al.
Hormone Research in Paediatrics|January 29, 2016
Global Disorders of Sex Development Update since 2006: Perceptions, Approach and CarePeter A Lee, Anna Nordenström, Christopher P Houk, et al.
Nature Communications|March 8, 2025
Genome-wide profiling of highly similar paralogous genes using HiFi sequencingXiao Chen, Daniel Baker, Egor Dolzhenko, et al.
Plos One|March 17, 2011
Copy number variation in patients with disorders of sex development due to 46,XY gonadal dysgenesisStefan White, Thomas Ohnesorg, Amanda Notini, et al.
Pageof 18

Showing results (131-140 of 177) with videos related to

Sort By:
Pageof 18
Food and Chemical Toxicology : an International Journal Published for the British Industrial Biological Research Association|December 9, 2020
Motor control and cognition deficits associated with protein carbamoylation in food (cassava) cyanogenic poisoning: Neurodegeneration and genomic perspectivesF A Rwatambuga, E R Ali, M S Bramble, et al.
European Journal of Medical Genetics|June 23, 2021
Facial analysis technology for the detection of Down syndrome in the Democratic Republic of the CongoAntonio R Porras, Matthew S Bramble, Kizito Mosema Be Amoti, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 22, 2017
Is it time to retire fragile X testing as a first-tier test for developmental delay, intellectual disability, and autism spectrum disorder?Sureni V Mullegama, Steven D Klein, Dzung C Nguyen, et al.
Clinical Genetics|May 17, 2023
Increased diagnostic yield from negative whole genome-slice panels using automated reanalysisSeth I Berger, Georgia Pitsava, Andrea J Cohen, et al.
American Journal of Human Genetics|March 3, 2015
De novo nonsense mutations in KAT6A, a lysine acetyl-transferase gene, cause a syndrome including microcephaly and global developmental delayValerie A Arboleda, Hane Lee, Naghmeh Dorrani, et al.
The Journal of Clinical Investigation|December 25, 2010
Identification of SOX3 as an XX male sex reversal gene in mice and humansEdwina Sutton, James Hughes, Stefan White, et al.
Medrxiv : the Preprint Server for Health Sciences|February 24, 2025
Long-read sequencing resolves the clinically relevant <i>CYP21A2</i> locus, supporting a new clinical test for Congenital Adrenal HyperplasiaJean Monlong, Xiao Chen, Hayk Barseghyan, et al.
Hormone Research in Paediatrics|January 29, 2016
Global Disorders of Sex Development Update since 2006: Perceptions, Approach and CarePeter A Lee, Anna Nordenström, Christopher P Houk, et al.
Nature Communications|March 8, 2025
Genome-wide profiling of highly similar paralogous genes using HiFi sequencingXiao Chen, Daniel Baker, Egor Dolzhenko, et al.
Plos One|March 17, 2011
Copy number variation in patients with disorders of sex development due to 46,XY gonadal dysgenesisStefan White, Thomas Ohnesorg, Amanda Notini, et al.
Pageof 18