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N Murali

Showing results (81-90 of 90) with videos related to

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Medrxiv : the Preprint Server for Health Sciences|February 13, 2023
Heterozygous Nonsense Variants in the Ferritin Heavy Chain Gene <i>FTH1</i> Cause a Novel Pediatric NeuroferritinopathyJoseph T Shieh, Jesus A Tintos-Hernández, Chaya N Murali, et al.
Families, Systems & Health : the Journal of Collaborative Family Healthcare|July 10, 2025
Osteogenesis imperfecta and the family: A qualitative analysis of the experiences of family and caregiversGianna M Colombo, Andrew D Wiese, Amelia E Mercado, et al.
European Journal of Human Genetics : EJHG|July 4, 2024
Burden re-analysis of neurodevelopmental disorder cohorts for prioritization of candidate genesNoor Smal, Fatma Majdoub, Katrien Janssens, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 3, 2024
Improving access to exome sequencing in a medically underserved population through the Texome ProjectBlake Vuocolo, Ryan J German, Seema R Lalani, et al.
Medrxiv : the Preprint Server for Health Sciences|February 24, 2025
Variants in <i>BSN</i>, encoding the presynaptic protein Bassoon, result in a novel neurodevelopmental disorder with a broad phenotypic rangeStacy G Guzman, Sarah M Ruggiero, Shiva Ganesan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 6, 2022
Natural history of TANGO2 deficiency disorder: Baseline assessment of 73 patientsChristina Y Miyake, Erica J Lay, Claudia Soler-Alfonso, et al.
American Journal of Human Genetics|May 20, 2025
Variants in BSN, encoding the presynaptic protein Bassoon, result in a distinct neurodevelopmental disorder with a broad phenotypic rangeStacy G Guzman, Sarah M Ruggiero, Shiva Ganesan, et al.
American Journal of Human Genetics|January 29, 2025
Sequence variants in HECTD1 result in a variable neurodevelopmental disorderGazelle Zerafati-Jahromi, Elias Oxman, Hieu D Hoang, et al.
Cell Reports|March 16, 2022
Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseasesPaul C Marcogliese, Samantha L Deal, Jonathan Andrews, et al.
Brain : a Journal of Neurology|December 1, 2023
Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypesBerardo Rinaldi, Allan Bayat, Linda G Zachariassen, et al.
Pageof 9

Showing results (81-90 of 90) with videos related to

Sort By:
Pageof 9
You have reached the last page of results.This site can display upto 90 results.
Medrxiv : the Preprint Server for Health Sciences|February 13, 2023
Heterozygous Nonsense Variants in the Ferritin Heavy Chain Gene <i>FTH1</i> Cause a Novel Pediatric NeuroferritinopathyJoseph T Shieh, Jesus A Tintos-Hernández, Chaya N Murali, et al.
Families, Systems & Health : the Journal of Collaborative Family Healthcare|July 10, 2025
Osteogenesis imperfecta and the family: A qualitative analysis of the experiences of family and caregiversGianna M Colombo, Andrew D Wiese, Amelia E Mercado, et al.
European Journal of Human Genetics : EJHG|July 4, 2024
Burden re-analysis of neurodevelopmental disorder cohorts for prioritization of candidate genesNoor Smal, Fatma Majdoub, Katrien Janssens, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 3, 2024
Improving access to exome sequencing in a medically underserved population through the Texome ProjectBlake Vuocolo, Ryan J German, Seema R Lalani, et al.
Medrxiv : the Preprint Server for Health Sciences|February 24, 2025
Variants in <i>BSN</i>, encoding the presynaptic protein Bassoon, result in a novel neurodevelopmental disorder with a broad phenotypic rangeStacy G Guzman, Sarah M Ruggiero, Shiva Ganesan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 6, 2022
Natural history of TANGO2 deficiency disorder: Baseline assessment of 73 patientsChristina Y Miyake, Erica J Lay, Claudia Soler-Alfonso, et al.
American Journal of Human Genetics|May 20, 2025
Variants in BSN, encoding the presynaptic protein Bassoon, result in a distinct neurodevelopmental disorder with a broad phenotypic rangeStacy G Guzman, Sarah M Ruggiero, Shiva Ganesan, et al.
American Journal of Human Genetics|January 29, 2025
Sequence variants in HECTD1 result in a variable neurodevelopmental disorderGazelle Zerafati-Jahromi, Elias Oxman, Hieu D Hoang, et al.
Cell Reports|March 16, 2022
Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseasesPaul C Marcogliese, Samantha L Deal, Jonathan Andrews, et al.
Brain : a Journal of Neurology|December 1, 2023
Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypesBerardo Rinaldi, Allan Bayat, Linda G Zachariassen, et al.
Pageof 9