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Nature Medicine
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July 11, 2025
The UBE3A-ATS antisense oligonucleotide rugonersen in children with Angelman syndrome: a phase 1 trial
Jörg F Hipp, Carlos A Bacino, Lynne M Bird, et al.
American Journal of Medical Genetics. Part A
|
January 5, 2011
Angelman syndrome: Mutations influence features in early childhood
Wen-Hann Tan, Carlos A Bacino, Steven A Skinner, et al.
Obesity (Silver Spring, Md.)
|
November 3, 2023
Diazoxide choline extended-release tablet in people with Prader-Willi syndrome: results from long-term open-label study
Jennifer L Miller, Evelien Gevers, Nicola Bridges, et al.
American Journal of Medical Genetics. Part A
|
February 6, 2019
Hyperinsulinemic hypoglycemia in seven patients with de novo NSD1 mutations
Katheryn Grand, Christina Gonzalez-Gandolfi, Amanda M Ackermann, et al.
American Journal of Medical Genetics. Part A
|
May 29, 2021
Syndromic neurodevelopmental disorder associated with de novo variants in DDX23
William Burns, Lynne M Bird, Delphine Heron, 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.
American Journal of Human Genetics
|
July 25, 2017
Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements
Cinthya J Zepeda-Mendoza, Jonas Ibn-Salem, Tammy Kammin, et al.
American Journal of Medical Genetics. Part A
|
June 18, 2019
Perinatal distress in 1p36 deletion syndrome can mimic hypoxic ischemic encephalopathy
Lauren B Carter, Agatino Battaglia, Athena Cherry, et al.
Diabetes, Obesity & Metabolism
|
May 31, 2017
Effects of MetAP2 inhibition on hyperphagia and body weight in Prader-Willi syndrome: A randomized, double-blind, placebo-controlled trial
Shawn E McCandless, Jack A Yanovski, Jennifer Miller, et al.
Pediatric Neurology
|
August 13, 2021
Evaluating Sleep Disturbances in Children With Rare Genetic Neurodevelopmental Syndromes
Olivia J Veatch, Beth A Malow, Hye-Seung Lee, et al.
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of 12
Search research articles
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Showing results (81-90 of 120) with videos related to
Sort By:
Page
of 12
Nature Medicine
|
July 11, 2025
The UBE3A-ATS antisense oligonucleotide rugonersen in children with Angelman syndrome: a phase 1 trial
Jörg F Hipp, Carlos A Bacino, Lynne M Bird, et al.
American Journal of Medical Genetics. Part A
|
January 5, 2011
Angelman syndrome: Mutations influence features in early childhood
Wen-Hann Tan, Carlos A Bacino, Steven A Skinner, et al.
Obesity (Silver Spring, Md.)
|
November 3, 2023
Diazoxide choline extended-release tablet in people with Prader-Willi syndrome: results from long-term open-label study
Jennifer L Miller, Evelien Gevers, Nicola Bridges, et al.
American Journal of Medical Genetics. Part A
|
February 6, 2019
Hyperinsulinemic hypoglycemia in seven patients with de novo NSD1 mutations
Katheryn Grand, Christina Gonzalez-Gandolfi, Amanda M Ackermann, et al.
American Journal of Medical Genetics. Part A
|
May 29, 2021
Syndromic neurodevelopmental disorder associated with de novo variants in DDX23
William Burns, Lynne M Bird, Delphine Heron, 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.
American Journal of Human Genetics
|
July 25, 2017
Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements
Cinthya J Zepeda-Mendoza, Jonas Ibn-Salem, Tammy Kammin, et al.
American Journal of Medical Genetics. Part A
|
June 18, 2019
Perinatal distress in 1p36 deletion syndrome can mimic hypoxic ischemic encephalopathy
Lauren B Carter, Agatino Battaglia, Athena Cherry, et al.
Diabetes, Obesity & Metabolism
|
May 31, 2017
Effects of MetAP2 inhibition on hyperphagia and body weight in Prader-Willi syndrome: A randomized, double-blind, placebo-controlled trial
Shawn E McCandless, Jack A Yanovski, Jennifer Miller, et al.
Pediatric Neurology
|
August 13, 2021
Evaluating Sleep Disturbances in Children With Rare Genetic Neurodevelopmental Syndromes
Olivia J Veatch, Beth A Malow, Hye-Seung Lee, et al.
Page
of 12