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Orphanet Journal of Rare Diseases
|
January 30, 2022
Phelan-McDermid syndrome: a classification system after 30 years of experience
Katy Phelan, Luigi Boccuto, Craig M Powell, 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.
Autism Research : Official Journal of the International Society for Autism Research
|
May 15, 2020
Psychometric Study of the Social Responsiveness Scale in Phelan-McDermid Syndrome
Kellie Gergoudis, Alan Weinberg, Jonathan Templin, et al.
Journal of Neurodevelopmental Disorders
|
August 25, 2025
Phenotypic variation in neural sensory processing by deletion size, age, and sex in Phelan-McDermid syndrome
Melody Reese Smith, Elizabeth Berry-Kravis, Andrew Thaliath, et al.
Neuroimage
|
September 9, 2017
Spatial gene expression analysis of neuroanatomical differences in mouse models
Darren J Fernandes, Jacob Ellegood, Rand Askalan, et al.
Journal of Neurodevelopmental Disorders
|
May 10, 2024
Clinical, genetic, and cognitive correlates of seizure occurrences in Phelan-McDermid syndrome
Tess Levy, Jacob Gluckman, Paige M Siper, et al.
American Journal on Intellectual and Developmental Disabilities
|
August 26, 2025
Which Score for What? Operationalizing Standardized Cognitive Test Performance for the Assessment of Change
Cristan Farmer, Audrey Thurm, Tanvi Das, et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience
|
May 20, 2011
Deletion of the hyperpolarization-activated cyclic nucleotide-gated channel auxiliary subunit TRIP8b impairs hippocampal Ih localization and function and promotes antidepressant behavior in mice
Alan S Lewis, Sachin P Vaidya, Cory A Blaiss, et al.
American Journal on Intellectual and Developmental Disabilities
|
August 26, 2025
Genetic Subtypes of Phelan-McDermid Syndrome Exhibit Similar Rates of Change Despite Differences in Level of Impairment in Developmental Constructs
Tess Levy, Cristan Farmer, Siddharth Srivastava, et al.
Page
of 7
Search research articles
Search
Showing results (51-60 of 70) with videos related to
Sort By:
Page
of 7
Orphanet Journal of Rare Diseases
|
January 30, 2022
Phelan-McDermid syndrome: a classification system after 30 years of experience
Katy Phelan, Luigi Boccuto, Craig M Powell, 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.
Autism Research : Official Journal of the International Society for Autism Research
|
May 15, 2020
Psychometric Study of the Social Responsiveness Scale in Phelan-McDermid Syndrome
Kellie Gergoudis, Alan Weinberg, Jonathan Templin, et al.
Journal of Neurodevelopmental Disorders
|
August 25, 2025
Phenotypic variation in neural sensory processing by deletion size, age, and sex in Phelan-McDermid syndrome
Melody Reese Smith, Elizabeth Berry-Kravis, Andrew Thaliath, et al.
Neuroimage
|
September 9, 2017
Spatial gene expression analysis of neuroanatomical differences in mouse models
Darren J Fernandes, Jacob Ellegood, Rand Askalan, et al.
Journal of Neurodevelopmental Disorders
|
May 10, 2024
Clinical, genetic, and cognitive correlates of seizure occurrences in Phelan-McDermid syndrome
Tess Levy, Jacob Gluckman, Paige M Siper, et al.
American Journal on Intellectual and Developmental Disabilities
|
August 26, 2025
Which Score for What? Operationalizing Standardized Cognitive Test Performance for the Assessment of Change
Cristan Farmer, Audrey Thurm, Tanvi Das, et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience
|
May 20, 2011
Deletion of the hyperpolarization-activated cyclic nucleotide-gated channel auxiliary subunit TRIP8b impairs hippocampal Ih localization and function and promotes antidepressant behavior in mice
Alan S Lewis, Sachin P Vaidya, Cory A Blaiss, et al.
American Journal on Intellectual and Developmental Disabilities
|
August 26, 2025
Genetic Subtypes of Phelan-McDermid Syndrome Exhibit Similar Rates of Change Despite Differences in Level of Impairment in Developmental Constructs
Tess Levy, Cristan Farmer, Siddharth Srivastava, et al.
Page
of 7