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Nature Communications
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November 12, 2024
A framework for N-of-1 trials of individualized gene-targeted therapies for genetic diseases
Olivia Kim-McManus, Joseph G Gleeson, Laurence Mignon, et al.
Frontiers in Psychiatry
|
August 23, 2021
The Phenotypic Profile Associated With the <i>FMR1</i> Premutation in Women: An Investigation of Clinical-Behavioral, Social-Cognitive, and Executive Abilities
Nell Maltman, Janna Guilfoyle, Kritika Nayar, et al.
Pediatrics
|
November 7, 2012
Newborn, carrier, and early childhood screening recommendations for fragile X
Liane Abrams, Amy Cronister, William T Brown, et al.
Autism : the International Journal of Research and Practice
|
June 25, 2025
Development of a Goal Attainment Scale (GAS) outcome measure for clinical interventional studies in paediatric autism
Hannah Staunton, Tammy McIver, Julian Tillmann, et al.
Cell Reports
|
January 20, 2026
Metabolic reprogramming during human neuron differentiation indicates glutaminase as a key determinant in Fragile X syndrome
Sneha Shah, Daniel Barnes, Botao Liu, et al.
Pediatrics
|
April 29, 2021
Emergence of Developmental Delay in Infants and Toddlers With an <i>FMR1</i> Mutation
Anne C Wheeler, Angela Gwaltney, Melissa Raspa, et al.
HGG Advances
|
October 24, 2022
Large 22q13.3 deletions perturb peripheral transcriptomic and metabolomic profiles in Phelan-McDermid syndrome
Michael S Breen, Xuanjia Fan, Tess Levy, et al.
Pediatric Neurology
|
February 29, 2020
Diffusion Tensor Imaging Abnormalities in the Uncinate Fasciculus and Inferior Longitudinal Fasciculus in Phelan-McDermid Syndrome
Julia Bassell, Siddharth Srivastava, Anna K Prohl, et al.
Cerebellum (London, England)
|
June 12, 2016
Update on the Clinical, Radiographic, and Neurobehavioral Manifestations in FXTAS and FMR1 Premutation Carriers
Deborah A Hall, Erin Robertson, Annie L Shelton, et al.
Journal of Neurodevelopmental Disorders
|
June 16, 2017
Fragile X targeted pharmacotherapy: lessons learned and future directions
Craig A Erickson, Matthew H Davenport, Tori L Schaefer, et al.
Page
of 32
Search research articles
Search
Showing results (241-250 of 312) with videos related to
Sort By:
Page
of 32
Nature Communications
|
November 12, 2024
A framework for N-of-1 trials of individualized gene-targeted therapies for genetic diseases
Olivia Kim-McManus, Joseph G Gleeson, Laurence Mignon, et al.
Frontiers in Psychiatry
|
August 23, 2021
The Phenotypic Profile Associated With the <i>FMR1</i> Premutation in Women: An Investigation of Clinical-Behavioral, Social-Cognitive, and Executive Abilities
Nell Maltman, Janna Guilfoyle, Kritika Nayar, et al.
Pediatrics
|
November 7, 2012
Newborn, carrier, and early childhood screening recommendations for fragile X
Liane Abrams, Amy Cronister, William T Brown, et al.
Autism : the International Journal of Research and Practice
|
June 25, 2025
Development of a Goal Attainment Scale (GAS) outcome measure for clinical interventional studies in paediatric autism
Hannah Staunton, Tammy McIver, Julian Tillmann, et al.
Cell Reports
|
January 20, 2026
Metabolic reprogramming during human neuron differentiation indicates glutaminase as a key determinant in Fragile X syndrome
Sneha Shah, Daniel Barnes, Botao Liu, et al.
Pediatrics
|
April 29, 2021
Emergence of Developmental Delay in Infants and Toddlers With an <i>FMR1</i> Mutation
Anne C Wheeler, Angela Gwaltney, Melissa Raspa, et al.
HGG Advances
|
October 24, 2022
Large 22q13.3 deletions perturb peripheral transcriptomic and metabolomic profiles in Phelan-McDermid syndrome
Michael S Breen, Xuanjia Fan, Tess Levy, et al.
Pediatric Neurology
|
February 29, 2020
Diffusion Tensor Imaging Abnormalities in the Uncinate Fasciculus and Inferior Longitudinal Fasciculus in Phelan-McDermid Syndrome
Julia Bassell, Siddharth Srivastava, Anna K Prohl, et al.
Cerebellum (London, England)
|
June 12, 2016
Update on the Clinical, Radiographic, and Neurobehavioral Manifestations in FXTAS and FMR1 Premutation Carriers
Deborah A Hall, Erin Robertson, Annie L Shelton, et al.
Journal of Neurodevelopmental Disorders
|
June 16, 2017
Fragile X targeted pharmacotherapy: lessons learned and future directions
Craig A Erickson, Matthew H Davenport, Tori L Schaefer, et al.
Page
of 32