Search research articles
Contact Us
Filters
Showing results (351-360 of 359) with videos related to
Page
of 36
Sort By:
You have reached the last page of results.
This site can display upto 359 results.
Medrxiv : the Preprint Server for Health Sciences
|
February 24, 2025
Variants in <i>BSN</i>, encoding the presynaptic protein Bassoon, result in a novel neurodevelopmental disorder with a broad phenotypic range
Stacy G Guzman, Sarah M Ruggiero, Shiva Ganesan, et al.
American Journal of Human Genetics
|
May 20, 2025
Variants in BSN, encoding the presynaptic protein Bassoon, result in a distinct neurodevelopmental disorder with a broad phenotypic range
Stacy G Guzman, Sarah M Ruggiero, Shiva Ganesan, et al.
Medrxiv : the Preprint Server for Health Sciences
|
February 12, 2026
A Prospective Natural History Study Protocol for Clinical Trial Readiness in Synaptic Disorders
Jillian L McKee, Sarah M Ruggiero, Kristin Cunningham, et al.
Brain : a Journal of Neurology
|
February 22, 2022
Assessing the landscape of STXBP1-related disorders in 534 individuals
Julie Xian, Shridhar Parthasarathy, Sarah M Ruggiero, et al.
Genes
|
July 27, 2024
Expanding Genetic Counselor Roles: A Model for Global Research Development
Colleen C Muraresku, Elizabeth M McCormick, Lydia Rockart, et al.
Neurology
|
January 2, 2024
Molecular and Phenotypic Characterization of the <i>RORB</i>-Related Disorder
Zeynep Gokce-Samar, Annalisa Vetro, Julitta De Bellescize, et al.
Medrxiv : the Preprint Server for Health Sciences
|
March 13, 2026
Gene Portals: A Framework for Integrating Clinical, Functional, and Structural Evidence into Rare Disease Variant Classification
Tobias Brünger, Ilona Krey, Suyeon Kim, et al.
American Journal of Human Genetics
|
September 9, 2025
A clinical and genotype-phenotype analysis of MACF1 variants
Jordy Dekker, Rachel Schot, Kimberly A Aldinger, et al.
The Journal of Clinical Investigation
|
November 14, 2023
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features
Dong Li, Qin Wang, Allan Bayat, et al.
Page
of 36
Search research articles
Search
Showing results (351-360 of 359) with videos related to
Sort By:
Page
of 36
You have reached the last page of results.
This site can display upto 359 results.
Medrxiv : the Preprint Server for Health Sciences
|
February 24, 2025
Variants in <i>BSN</i>, encoding the presynaptic protein Bassoon, result in a novel neurodevelopmental disorder with a broad phenotypic range
Stacy G Guzman, Sarah M Ruggiero, Shiva Ganesan, et al.
American Journal of Human Genetics
|
May 20, 2025
Variants in BSN, encoding the presynaptic protein Bassoon, result in a distinct neurodevelopmental disorder with a broad phenotypic range
Stacy G Guzman, Sarah M Ruggiero, Shiva Ganesan, et al.
Medrxiv : the Preprint Server for Health Sciences
|
February 12, 2026
A Prospective Natural History Study Protocol for Clinical Trial Readiness in Synaptic Disorders
Jillian L McKee, Sarah M Ruggiero, Kristin Cunningham, et al.
Brain : a Journal of Neurology
|
February 22, 2022
Assessing the landscape of STXBP1-related disorders in 534 individuals
Julie Xian, Shridhar Parthasarathy, Sarah M Ruggiero, et al.
Genes
|
July 27, 2024
Expanding Genetic Counselor Roles: A Model for Global Research Development
Colleen C Muraresku, Elizabeth M McCormick, Lydia Rockart, et al.
Neurology
|
January 2, 2024
Molecular and Phenotypic Characterization of the <i>RORB</i>-Related Disorder
Zeynep Gokce-Samar, Annalisa Vetro, Julitta De Bellescize, et al.
Medrxiv : the Preprint Server for Health Sciences
|
March 13, 2026
Gene Portals: A Framework for Integrating Clinical, Functional, and Structural Evidence into Rare Disease Variant Classification
Tobias Brünger, Ilona Krey, Suyeon Kim, et al.
American Journal of Human Genetics
|
September 9, 2025
A clinical and genotype-phenotype analysis of MACF1 variants
Jordy Dekker, Rachel Schot, Kimberly A Aldinger, et al.
The Journal of Clinical Investigation
|
November 14, 2023
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features
Dong Li, Qin Wang, Allan Bayat, et al.
Page
of 36