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Jessica X Chong

Showing results (11-20 of 94) with videos related to

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BMC Medical Genomics|August 12, 2024
Congenital myasthenic syndrome secondary to pathogenic variants in the SLC5A7 gene: report of two casesJavier A Muntadas, Martin R Hyland, Maria Del Rosario Ortolá Martínez, et al.
American Journal of Medical Genetics. Part A|September 9, 2017
Survival beyond the perinatal period expands the phenotypes caused by mutations in GLE1Edith Said, Jessica X Chong, Maja Hempel, et al.
Genetic Epidemiology|December 5, 2018
Loss of function, missense, and intronic variants in NOTCH1 confer different risks for left ventricular outflow tract obstructive heart defects in two European cohortsEmmi Helle, Aldo Córdova-Palomera, Tiina Ojala, et al.
HGG Advances|December 12, 2025
A systematic assessment of large language models' knowledge of rare diseases: How much do large language models know about rare disease?Tudor Groza, Allison J Marcello, Tristan Carlisle, et al.
American Journal of Medical Genetics. Part A|May 26, 2017
Presynaptic congenital myasthenic syndrome with a homozygous sequence variant in LAMA5 combines myopia, facial tics, and failure of neuromuscular transmissionRicardo A Maselli, Juan Arredondo, Jessica Vázquez, et al.
Annals of the New York Academy of Sciences|January 30, 2018
A presynaptic congenital myasthenic syndrome attributed to a homozygous sequence variant in LAMA5Ricardo A Maselli, Juan Arredondo, Jessica Vázquez, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 5, 2018
Genetic analysis of CHARGE syndrome identifies overlapping molecular biologyAmanda Moccia, Anshika Srivastava, Jennifer M Skidmore, et al.
Annals of the American Thoracic Society|January 12, 2018
Variation in Cilia Protein Genes and Progression of Lung Disease in Cystic FibrosisElizabeth Blue, Tin L Louie, Jessica X Chong, et al.
American Journal of Medical Genetics. Part A|April 13, 2012
A shared founder mutation underlies restrictive dermopathy in Old Colony (Dutch-German) Mennonite and Hutterite patients in North AmericaCatrina Loucks, Jillian S Parboosingh, Jessica X Chong, et al.
Biorxiv : the Preprint Server for Biology|February 19, 2024
Considerations for reporting variants in novel candidate genes identified during clinical genomic testingJessica X Chong, Seth I Berger, Samantha Baxter, et al.
Pageof 10

Showing results (11-20 of 94) with videos related to

Sort By:
Pageof 10
BMC Medical Genomics|August 12, 2024
Congenital myasthenic syndrome secondary to pathogenic variants in the SLC5A7 gene: report of two casesJavier A Muntadas, Martin R Hyland, Maria Del Rosario Ortolá Martínez, et al.
American Journal of Medical Genetics. Part A|September 9, 2017
Survival beyond the perinatal period expands the phenotypes caused by mutations in GLE1Edith Said, Jessica X Chong, Maja Hempel, et al.
Genetic Epidemiology|December 5, 2018
Loss of function, missense, and intronic variants in NOTCH1 confer different risks for left ventricular outflow tract obstructive heart defects in two European cohortsEmmi Helle, Aldo Córdova-Palomera, Tiina Ojala, et al.
HGG Advances|December 12, 2025
A systematic assessment of large language models' knowledge of rare diseases: How much do large language models know about rare disease?Tudor Groza, Allison J Marcello, Tristan Carlisle, et al.
American Journal of Medical Genetics. Part A|May 26, 2017
Presynaptic congenital myasthenic syndrome with a homozygous sequence variant in LAMA5 combines myopia, facial tics, and failure of neuromuscular transmissionRicardo A Maselli, Juan Arredondo, Jessica Vázquez, et al.
Annals of the New York Academy of Sciences|January 30, 2018
A presynaptic congenital myasthenic syndrome attributed to a homozygous sequence variant in LAMA5Ricardo A Maselli, Juan Arredondo, Jessica Vázquez, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 5, 2018
Genetic analysis of CHARGE syndrome identifies overlapping molecular biologyAmanda Moccia, Anshika Srivastava, Jennifer M Skidmore, et al.
Annals of the American Thoracic Society|January 12, 2018
Variation in Cilia Protein Genes and Progression of Lung Disease in Cystic FibrosisElizabeth Blue, Tin L Louie, Jessica X Chong, et al.
American Journal of Medical Genetics. Part A|April 13, 2012
A shared founder mutation underlies restrictive dermopathy in Old Colony (Dutch-German) Mennonite and Hutterite patients in North AmericaCatrina Loucks, Jillian S Parboosingh, Jessica X Chong, et al.
Biorxiv : the Preprint Server for Biology|February 19, 2024
Considerations for reporting variants in novel candidate genes identified during clinical genomic testingJessica X Chong, Seth I Berger, Samantha Baxter, et al.
Pageof 10