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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.
Fertility and Sterility
|
May 21, 2021
Identifying susceptibility genes for primary ovarian insufficiency on the high-risk genetic background of a fragile X premutation
Cristina E Trevino, J Christopher Rounds, Krista Charen, et al.
Journal of the American Academy of Dermatology
|
August 22, 2020
Association between halo nevi and melanoma in adults: A multicenter retrospective case series
Dylan Haynes, Jennifer L Strunck, Jordan Said, et al.
Lancet (London, England)
|
August 15, 2017
Intrathecal 2-hydroxypropyl-β-cyclodextrin decreases neurological disease progression in Niemann-Pick disease, type C1: a non-randomised, open-label, phase 1-2 trial
Daniel S Ory, Elizabeth A Ottinger, Nicole Yanjanin Farhat, et al.
Pediatric Neurology
|
July 3, 2026
Examining Epilepsy in Angelman Syndrome: Insights From Caregiver-Reported Data in the Linking Angelman and Dup15q Data for Expanded Research Database
Sarah Nelson Potter, Carlos Petzold, Katie Garbarini, et al.
Journal of Inherited Metabolic Disease
|
April 26, 2026
2025 Consensus Clinical Management Guidelines for Niemann-Pick Disease Type C
Tarekegn Hiwot, Forbes D Porter, Tatiana Bremova-Ertl, et al.
American Journal on Intellectual and Developmental Disabilities
|
November 19, 2020
Person Ability Scores as an Alternative to Norm-Referenced Scores as Outcome Measures in Studies of Neurodevelopmental Disorders
Cristan A Farmer, Aaron J Kaat, Audrey Thurm, et al.
American Journal on Intellectual and Developmental Disabilities
|
August 26, 2025
Characterizing Developmental and Behavioral Profiles in Developmental Synaptopathies to Inform Clinical Trial Endpoints
Latha Valluripalli Soorya, Camille W Brune, Cristan A Farmer, et al.
American Journal of Human Genetics
|
November 4, 2017
Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia
Thi Tuyet Mai Nguyen, Yoshiko Murakami, Eamonn Sheridan, et al.
American Journal of Human Genetics
|
February 1, 2011
Mutations in prickle orthologs cause seizures in flies, mice, and humans
Hirotaka Tao, J Robert Manak, Levi Sowers, et al.
Page
of 32
Search research articles
Search
Showing results (301-310 of 312) with videos related to
Sort By:
Page
of 32
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.
Fertility and Sterility
|
May 21, 2021
Identifying susceptibility genes for primary ovarian insufficiency on the high-risk genetic background of a fragile X premutation
Cristina E Trevino, J Christopher Rounds, Krista Charen, et al.
Journal of the American Academy of Dermatology
|
August 22, 2020
Association between halo nevi and melanoma in adults: A multicenter retrospective case series
Dylan Haynes, Jennifer L Strunck, Jordan Said, et al.
Lancet (London, England)
|
August 15, 2017
Intrathecal 2-hydroxypropyl-β-cyclodextrin decreases neurological disease progression in Niemann-Pick disease, type C1: a non-randomised, open-label, phase 1-2 trial
Daniel S Ory, Elizabeth A Ottinger, Nicole Yanjanin Farhat, et al.
Pediatric Neurology
|
July 3, 2026
Examining Epilepsy in Angelman Syndrome: Insights From Caregiver-Reported Data in the Linking Angelman and Dup15q Data for Expanded Research Database
Sarah Nelson Potter, Carlos Petzold, Katie Garbarini, et al.
Journal of Inherited Metabolic Disease
|
April 26, 2026
2025 Consensus Clinical Management Guidelines for Niemann-Pick Disease Type C
Tarekegn Hiwot, Forbes D Porter, Tatiana Bremova-Ertl, et al.
American Journal on Intellectual and Developmental Disabilities
|
November 19, 2020
Person Ability Scores as an Alternative to Norm-Referenced Scores as Outcome Measures in Studies of Neurodevelopmental Disorders
Cristan A Farmer, Aaron J Kaat, Audrey Thurm, et al.
American Journal on Intellectual and Developmental Disabilities
|
August 26, 2025
Characterizing Developmental and Behavioral Profiles in Developmental Synaptopathies to Inform Clinical Trial Endpoints
Latha Valluripalli Soorya, Camille W Brune, Cristan A Farmer, et al.
American Journal of Human Genetics
|
November 4, 2017
Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia
Thi Tuyet Mai Nguyen, Yoshiko Murakami, Eamonn Sheridan, et al.
American Journal of Human Genetics
|
February 1, 2011
Mutations in prickle orthologs cause seizures in flies, mice, and humans
Hirotaka Tao, J Robert Manak, Levi Sowers, et al.
Page
of 32