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J Guillen

Showing results (61-70 of 130) with videos related to

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The Journal of Pediatrics|June 2, 2015
Executive Function and Adaptive Behavior in Muenke SyndromeColin M P Yarnell, Yonit A Addissie, Donald W Hadley, et al.
Journal of Hepatology|June 25, 2017
Human germline hedgehog pathway mutations predispose to fatty liverMaria J Guillen-Sacoto, Ariel F Martinez, Yu Abe, et al.
HGG Advances|March 23, 2025
Identification of de novo variants in KCTD10 as a proposed cause for multiple congenital anomaliesMichelle M Morrow, Erin Torti, Bobbi McGivern, et al.
American Journal of Human Genetics|December 13, 2023
Systematic analysis of variants escaping nonsense-mediated decay uncovers candidate Mendelian diseasesRebecca I Torene, Maria J Guillen Sacoto, Francisca Millan, et al.
American Journal of Medical Genetics. Part A|January 8, 2016
Muenke syndrome: An international multicenter natural history studyPaul Kruszka, Yonit A Addissie, Colin M P Yarnell, et al.
Human Genetics|February 16, 2026
Multiscore, a gene ranker powered by artificial intelligence and real-world clinical data, shows high sensitivity for the molecular diagnosis of Mendelian disorders in nearly 10,000 exomes and genomesVincent D Ustach, Maria J Guillen Sacoto, Stephen McGee, et al.
Clinical Genetics|October 3, 2020
Heterozygous de novo variants in CSNK1G1 are associated with syndromic developmental delay and autism spectrum disorderNina B Gold, Dong Li, Anna Chassevent, et al.
HGG Advances|February 14, 2025
A proposed role for CDO1 in CNS development: Three children with rare missense variants and a neurological phenotypeLeah Rowe, Sureni V Mullegama, Rachel Lombardo, et al.
Developmental Biology|September 24, 2025
WNT4 deficiency impacts heart, diaphragm, and palate development: Insights from human genetics, machine learning, and mouse modelsAndrés Hernández-García, Bum Jun Kim, David Chitayat, et al.
American Journal of Human Genetics|March 3, 2022
Loss-of-function variants in TIAM1 are associated with developmental delay, intellectual disability, and seizuresShenzhao Lu, Rebecca Hernan, Paul C Marcogliese, et al.
Pageof 13

Showing results (61-70 of 130) with videos related to

Sort By:
Pageof 13
The Journal of Pediatrics|June 2, 2015
Executive Function and Adaptive Behavior in Muenke SyndromeColin M P Yarnell, Yonit A Addissie, Donald W Hadley, et al.
Journal of Hepatology|June 25, 2017
Human germline hedgehog pathway mutations predispose to fatty liverMaria J Guillen-Sacoto, Ariel F Martinez, Yu Abe, et al.
HGG Advances|March 23, 2025
Identification of de novo variants in KCTD10 as a proposed cause for multiple congenital anomaliesMichelle M Morrow, Erin Torti, Bobbi McGivern, et al.
American Journal of Human Genetics|December 13, 2023
Systematic analysis of variants escaping nonsense-mediated decay uncovers candidate Mendelian diseasesRebecca I Torene, Maria J Guillen Sacoto, Francisca Millan, et al.
American Journal of Medical Genetics. Part A|January 8, 2016
Muenke syndrome: An international multicenter natural history studyPaul Kruszka, Yonit A Addissie, Colin M P Yarnell, et al.
Human Genetics|February 16, 2026
Multiscore, a gene ranker powered by artificial intelligence and real-world clinical data, shows high sensitivity for the molecular diagnosis of Mendelian disorders in nearly 10,000 exomes and genomesVincent D Ustach, Maria J Guillen Sacoto, Stephen McGee, et al.
Clinical Genetics|October 3, 2020
Heterozygous de novo variants in CSNK1G1 are associated with syndromic developmental delay and autism spectrum disorderNina B Gold, Dong Li, Anna Chassevent, et al.
HGG Advances|February 14, 2025
A proposed role for CDO1 in CNS development: Three children with rare missense variants and a neurological phenotypeLeah Rowe, Sureni V Mullegama, Rachel Lombardo, et al.
Developmental Biology|September 24, 2025
WNT4 deficiency impacts heart, diaphragm, and palate development: Insights from human genetics, machine learning, and mouse modelsAndrés Hernández-García, Bum Jun Kim, David Chitayat, et al.
American Journal of Human Genetics|March 3, 2022
Loss-of-function variants in TIAM1 are associated with developmental delay, intellectual disability, and seizuresShenzhao Lu, Rebecca Hernan, Paul C Marcogliese, et al.
Pageof 13