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Journal of Lipid Research
|
July 24, 2024
Accumulation of alkyl-lysophosphatidylcholines in Niemann-Pick disease type C1
Sonali Mishra, Pamela Kell, David Scherrer, et al.
American Journal on Intellectual and Developmental Disabilities
|
August 26, 2025
Retrospective Reports of Skill Attainment and Loss in Phelan-McDermid Syndrome
Cristan Farmer, Ivy Giserman-Kiss, Ellora Mohanty, et al.
Nature Reviews. Disease Primers
|
September 30, 2017
Fragile X syndrome
Randi J Hagerman, Elizabeth Berry-Kravis, Heather Cody Hazlett, et al.
Gait & Posture
|
June 13, 2020
Normative database of spatiotemporal gait parameters using inertial sensors in typically developing children and young adults
Stephanie Voss, Jessica Joyce, Alexandras Biskis, et al.
Neurology
|
March 29, 2019
Double-blind, randomized, placebo-controlled study of trofinetide in pediatric Rett syndrome
Daniel G Glaze, Jeffrey L Neul, Walter E Kaufmann, et al.
Human Molecular Genetics
|
May 12, 2011
Altered zinc transport disrupts mitochondrial protein processing/import in fragile X-associated tremor/ataxia syndrome
Eleonora Napoli, Catherine Ross-Inta, Sarah Wong, et al.
Genetics in Medicine Open
|
August 18, 2025
Serum neurofilament light protein as a biomarker in Niemann-Pick disease, type C1
Niamh X Cawley, Ruyu Zhou, Avani Mylvara, et al.
Genome Medicine
|
December 25, 2012
FMR1 CGG allele size and prevalence ascertained through newborn screening in the United States
Flora Tassone, Ka Pou Iong, Tzu-Han Tong, et al.
Nature Reviews. Drug Discovery
|
April 3, 2019
Discovering translational biomarkers in neurodevelopmental disorders
Mustafa Sahin, Stephanie R Jones, John A Sweeney, et al.
American Journal of Medical Genetics. Part A
|
December 8, 2006
Neuropathic features in fragile X premutation carriers
Elizabeth Berry-Kravis, Christopher G Goetz, Maureen A Leehey, et al.
Page
of 27
Search research articles
Search
Showing results (161-170 of 265) with videos related to
Sort By:
Page
of 27
Journal of Lipid Research
|
July 24, 2024
Accumulation of alkyl-lysophosphatidylcholines in Niemann-Pick disease type C1
Sonali Mishra, Pamela Kell, David Scherrer, et al.
American Journal on Intellectual and Developmental Disabilities
|
August 26, 2025
Retrospective Reports of Skill Attainment and Loss in Phelan-McDermid Syndrome
Cristan Farmer, Ivy Giserman-Kiss, Ellora Mohanty, et al.
Nature Reviews. Disease Primers
|
September 30, 2017
Fragile X syndrome
Randi J Hagerman, Elizabeth Berry-Kravis, Heather Cody Hazlett, et al.
Gait & Posture
|
June 13, 2020
Normative database of spatiotemporal gait parameters using inertial sensors in typically developing children and young adults
Stephanie Voss, Jessica Joyce, Alexandras Biskis, et al.
Neurology
|
March 29, 2019
Double-blind, randomized, placebo-controlled study of trofinetide in pediatric Rett syndrome
Daniel G Glaze, Jeffrey L Neul, Walter E Kaufmann, et al.
Human Molecular Genetics
|
May 12, 2011
Altered zinc transport disrupts mitochondrial protein processing/import in fragile X-associated tremor/ataxia syndrome
Eleonora Napoli, Catherine Ross-Inta, Sarah Wong, et al.
Genetics in Medicine Open
|
August 18, 2025
Serum neurofilament light protein as a biomarker in Niemann-Pick disease, type C1
Niamh X Cawley, Ruyu Zhou, Avani Mylvara, et al.
Genome Medicine
|
December 25, 2012
FMR1 CGG allele size and prevalence ascertained through newborn screening in the United States
Flora Tassone, Ka Pou Iong, Tzu-Han Tong, et al.
Nature Reviews. Drug Discovery
|
April 3, 2019
Discovering translational biomarkers in neurodevelopmental disorders
Mustafa Sahin, Stephanie R Jones, John A Sweeney, et al.
American Journal of Medical Genetics. Part A
|
December 8, 2006
Neuropathic features in fragile X premutation carriers
Elizabeth Berry-Kravis, Christopher G Goetz, Maureen A Leehey, et al.
Page
of 27