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Communications Biology
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November 6, 2024
Deep functional measurements of Fragile X syndrome human neurons reveal multiparametric electrophysiological disease phenotype
James J Fink, Nathaniel Delaney-Busch, Ryan Dawes, et al.
Brain Sciences
|
October 3, 2020
A Genotype-Phenotype Study of High-Resolution <i>FMR1</i> Nucleic Acid and Protein Analyses in Fragile X Patients with Neurobehavioral Assessments
Dejan B Budimirovic, Annette Schlageter, Stela Filipovic-Sadic, et al.
Human Molecular Genetics
|
September 24, 2021
Strong evidence for genotype-phenotype correlations in Phelan-McDermid syndrome: results from the developmental synaptopathies consortium
Tess Levy, Jennifer H Foss-Feig, Catalina Betancur, et al.
Molecular Autism
|
April 29, 2021
Shifted phase of EEG cross-frequency coupling in individuals with Phelan-McDermid syndrome
Michael G Mariscal, Elizabeth Berry-Kravis, Joseph D Buxbaum, et al.
Molecular Therapy. Methods & Clinical Development
|
May 8, 2019
Large-Scale Generation and Characterization of Homogeneous Populations of Migratory Cortical Interneurons from Human Pluripotent Stem Cells
Peiyan Ni, Haneul Noh, Zhicheng Shao, et al.
Nucleic Acids Research
|
June 2, 2026
Addressing the needs of nano-rare patients: the n-Lorem experience
Stanley T Crooke, Sarah Glass, Joseph G Gleeson, et al.
SAGE Open Medicine
|
November 1, 2024
Negative effect of treatment with mGluR5 negative allosteric modulator AFQ056 on blood biomarkers in young individuals with Fragile X syndrome
Dragana Protic, Elizabeth Breeze, Guadalupe Mendoza, et al.
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.
Science Translational Medicine
|
May 6, 2016
Development of a bile acid-based newborn screen for Niemann-Pick disease type C
Xuntian Jiang, Rohini Sidhu, Laurel Mydock-McGrane, et al.
American Journal of Medical Genetics. Part A
|
September 11, 2024
Aortic Root Dilation and Genotype Associations in Phelan-McDermid Syndrome
Jake Gluckman, Tess Levy, Kate Friedman, et al.
Page
of 32
Search research articles
Search
Showing results (281-290 of 312) with videos related to
Sort By:
Page
of 32
Communications Biology
|
November 6, 2024
Deep functional measurements of Fragile X syndrome human neurons reveal multiparametric electrophysiological disease phenotype
James J Fink, Nathaniel Delaney-Busch, Ryan Dawes, et al.
Brain Sciences
|
October 3, 2020
A Genotype-Phenotype Study of High-Resolution <i>FMR1</i> Nucleic Acid and Protein Analyses in Fragile X Patients with Neurobehavioral Assessments
Dejan B Budimirovic, Annette Schlageter, Stela Filipovic-Sadic, et al.
Human Molecular Genetics
|
September 24, 2021
Strong evidence for genotype-phenotype correlations in Phelan-McDermid syndrome: results from the developmental synaptopathies consortium
Tess Levy, Jennifer H Foss-Feig, Catalina Betancur, et al.
Molecular Autism
|
April 29, 2021
Shifted phase of EEG cross-frequency coupling in individuals with Phelan-McDermid syndrome
Michael G Mariscal, Elizabeth Berry-Kravis, Joseph D Buxbaum, et al.
Molecular Therapy. Methods & Clinical Development
|
May 8, 2019
Large-Scale Generation and Characterization of Homogeneous Populations of Migratory Cortical Interneurons from Human Pluripotent Stem Cells
Peiyan Ni, Haneul Noh, Zhicheng Shao, et al.
Nucleic Acids Research
|
June 2, 2026
Addressing the needs of nano-rare patients: the n-Lorem experience
Stanley T Crooke, Sarah Glass, Joseph G Gleeson, et al.
SAGE Open Medicine
|
November 1, 2024
Negative effect of treatment with mGluR5 negative allosteric modulator AFQ056 on blood biomarkers in young individuals with Fragile X syndrome
Dragana Protic, Elizabeth Breeze, Guadalupe Mendoza, et al.
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.
Science Translational Medicine
|
May 6, 2016
Development of a bile acid-based newborn screen for Niemann-Pick disease type C
Xuntian Jiang, Rohini Sidhu, Laurel Mydock-McGrane, et al.
American Journal of Medical Genetics. Part A
|
September 11, 2024
Aortic Root Dilation and Genotype Associations in Phelan-McDermid Syndrome
Jake Gluckman, Tess Levy, Kate Friedman, et al.
Page
of 32