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A Bacino

Showing results (111-120 of 173) with videos related to

Pageof 18
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Nature Medicine|July 11, 2025
The UBE3A-ATS antisense oligonucleotide rugonersen in children with Angelman syndrome: a phase 1 trialJörg F Hipp, Carlos A Bacino, Lynne M Bird, et al.
The Lancet. Child & Adolescent Health|November 20, 2023
Vosoritide therapy in children with achondroplasia aged 3-59 months: a multinational, randomised, double-blind, placebo-controlled, phase 2 trialRavi Savarirayan, William R Wilcox, Paul Harmatz, et al.
American Journal of Medical Genetics. Part A|January 5, 2011
Angelman syndrome: Mutations influence features in early childhoodWen-Hann Tan, Carlos A Bacino, Steven A Skinner, et al.
Plos Genetics|March 29, 2014
Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndromeMichael F Wangler, Claudia Gonzaga-Jauregui, Tomasz Gambin, et al.
Med (New York, N.Y.)|December 31, 2024
Sustained growth-promoting effects of vosoritide in children with achondroplasia from an ongoing phase 3 extension studyRavi Savarirayan, Melita Irving, William R Wilcox, et al.
American Journal of Human Genetics|January 10, 2006
Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlationSeema R Lalani, Arsalan M Safiullah, Susan D Fernbach, et al.
Eclinicalmedicine|October 12, 2023
Once-weekly TransCon CNP (navepegritide) in children with achondroplasia (ACcomplisH): a phase 2, multicentre, randomised, double-blind, placebo-controlled, dose-escalation trialRavi Savarirayan, Daniel G Hoernschemeyer, Merete Ljungberg, et al.
Journal of Neurodevelopmental Disorders|July 26, 2023
Enabling endpoint development for interventional clinical trials in individuals with Angelman syndrome: a prospective, longitudinal, observational clinical study (FREESIAS)Jorrit Tjeertes, Carlos A Bacino, Terry Jo Bichell, et al.
Journal of Medical Genetics|July 9, 2009
Microdeletions including YWHAE in the Miller-Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairmentS C Sreenath Nagamani, F Zhang, O A Shchelochkov, et al.
Human Mutation|January 31, 2020
BAZ2B haploinsufficiency as a cause of developmental delay, intellectual disability, and autism spectrum disorderTiana M Scott, Hui Guo, Evan E Eichler, et al.
Pageof 18

Showing results (111-120 of 173) with videos related to

Sort By:
Pageof 18
Nature Medicine|July 11, 2025
The UBE3A-ATS antisense oligonucleotide rugonersen in children with Angelman syndrome: a phase 1 trialJörg F Hipp, Carlos A Bacino, Lynne M Bird, et al.
The Lancet. Child & Adolescent Health|November 20, 2023
Vosoritide therapy in children with achondroplasia aged 3-59 months: a multinational, randomised, double-blind, placebo-controlled, phase 2 trialRavi Savarirayan, William R Wilcox, Paul Harmatz, et al.
American Journal of Medical Genetics. Part A|January 5, 2011
Angelman syndrome: Mutations influence features in early childhoodWen-Hann Tan, Carlos A Bacino, Steven A Skinner, et al.
Plos Genetics|March 29, 2014
Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndromeMichael F Wangler, Claudia Gonzaga-Jauregui, Tomasz Gambin, et al.
Med (New York, N.Y.)|December 31, 2024
Sustained growth-promoting effects of vosoritide in children with achondroplasia from an ongoing phase 3 extension studyRavi Savarirayan, Melita Irving, William R Wilcox, et al.
American Journal of Human Genetics|January 10, 2006
Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlationSeema R Lalani, Arsalan M Safiullah, Susan D Fernbach, et al.
Eclinicalmedicine|October 12, 2023
Once-weekly TransCon CNP (navepegritide) in children with achondroplasia (ACcomplisH): a phase 2, multicentre, randomised, double-blind, placebo-controlled, dose-escalation trialRavi Savarirayan, Daniel G Hoernschemeyer, Merete Ljungberg, et al.
Journal of Neurodevelopmental Disorders|July 26, 2023
Enabling endpoint development for interventional clinical trials in individuals with Angelman syndrome: a prospective, longitudinal, observational clinical study (FREESIAS)Jorrit Tjeertes, Carlos A Bacino, Terry Jo Bichell, et al.
Journal of Medical Genetics|July 9, 2009
Microdeletions including YWHAE in the Miller-Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairmentS C Sreenath Nagamani, F Zhang, O A Shchelochkov, et al.
Human Mutation|January 31, 2020
BAZ2B haploinsufficiency as a cause of developmental delay, intellectual disability, and autism spectrum disorderTiana M Scott, Hui Guo, Evan E Eichler, et al.
Pageof 18