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J Guillen

Showing results (71-80 of 130) with videos related to

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Cold Spring Harbor Molecular Case Studies|November 23, 2017
De novo variants in <i>EBF3</i> are associated with hypotonia, developmental delay, intellectual disability, and autismAkemi J Tanaka, Megan T Cho, Rebecca Willaert, et al.
American Journal of Medical Genetics. Part A|September 25, 2023
De novo missense variants in ZBTB47 are associated with developmental delays, hypotonia, seizures, gait abnormalities, and variable movement abnormalitiesScott K Ward, Alexandrea Wadley, Chun-Hui Anne Tsai, et al.
Epilepsia|January 7, 2021
Expanding the phenotype of PIGS-associated early onset epileptic developmental encephalopathyStephanie Efthymiou, Marina Dutra-Clarke, Reza Maroofian, et al.
Oncogene|August 28, 2024
S-p-bromobenzyl-glutathione cyclopentyl diester (BBGC) as novel therapeutic strategy to enhance trabectedin anti-tumor effect in soft tissue sarcoma preclinical modelsF Pantano, S Simonetti, M Iuliani, et al.
Journal of Medical Genetics|September 4, 2017
Missense variants in the chromatin remodeler <i>CHD1</i> are associated with neurodevelopmental disabilityGenay O Pilarowski, Hilary J Vernon, Carolyn D Applegate, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 23, 2017
In-depth investigations of adolescents and adults with holoprosencephaly identify unique characteristicsKarin Weiss, Paul Kruszka, Maria J Guillen Sacoto, et al.
American Journal of Medical Genetics. Part A|May 15, 2025
Perspectives on the Current and Future State of Artificial Intelligence in Medical GeneticsBenjamin D Solomon, Morgan Cheatham, Thales A C de Guimarães, et al.
HGG Advances|April 12, 2025
Homozygous variants in EIF3K associated with neurodevelopmental delay, microcephaly, and growth retardationBobbi McGivern, Tess Holling, Maria J Guillen Sacoto, et al.
American Journal of Human Genetics|April 5, 2016
Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and HypotoniaElizabeth J Bhoj, Dong Li, Margaret Harr, et al.
Human Mutation|December 11, 2019
The recurrent postzygotic pathogenic variant p.Glu47Lys in RHOA causes a novel recognizable neuroectodermal phenotypeGökhan Yigit, Ken Saida, Danielle DeMarzo, et al.
Pageof 13

Showing results (71-80 of 130) with videos related to

Sort By:
Pageof 13
Cold Spring Harbor Molecular Case Studies|November 23, 2017
De novo variants in <i>EBF3</i> are associated with hypotonia, developmental delay, intellectual disability, and autismAkemi J Tanaka, Megan T Cho, Rebecca Willaert, et al.
American Journal of Medical Genetics. Part A|September 25, 2023
De novo missense variants in ZBTB47 are associated with developmental delays, hypotonia, seizures, gait abnormalities, and variable movement abnormalitiesScott K Ward, Alexandrea Wadley, Chun-Hui Anne Tsai, et al.
Epilepsia|January 7, 2021
Expanding the phenotype of PIGS-associated early onset epileptic developmental encephalopathyStephanie Efthymiou, Marina Dutra-Clarke, Reza Maroofian, et al.
Oncogene|August 28, 2024
S-p-bromobenzyl-glutathione cyclopentyl diester (BBGC) as novel therapeutic strategy to enhance trabectedin anti-tumor effect in soft tissue sarcoma preclinical modelsF Pantano, S Simonetti, M Iuliani, et al.
Journal of Medical Genetics|September 4, 2017
Missense variants in the chromatin remodeler <i>CHD1</i> are associated with neurodevelopmental disabilityGenay O Pilarowski, Hilary J Vernon, Carolyn D Applegate, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 23, 2017
In-depth investigations of adolescents and adults with holoprosencephaly identify unique characteristicsKarin Weiss, Paul Kruszka, Maria J Guillen Sacoto, et al.
American Journal of Medical Genetics. Part A|May 15, 2025
Perspectives on the Current and Future State of Artificial Intelligence in Medical GeneticsBenjamin D Solomon, Morgan Cheatham, Thales A C de Guimarães, et al.
HGG Advances|April 12, 2025
Homozygous variants in EIF3K associated with neurodevelopmental delay, microcephaly, and growth retardationBobbi McGivern, Tess Holling, Maria J Guillen Sacoto, et al.
American Journal of Human Genetics|April 5, 2016
Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and HypotoniaElizabeth J Bhoj, Dong Li, Margaret Harr, et al.
Human Mutation|December 11, 2019
The recurrent postzygotic pathogenic variant p.Glu47Lys in RHOA causes a novel recognizable neuroectodermal phenotypeGökhan Yigit, Ken Saida, Danielle DeMarzo, et al.
Pageof 13