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Frontiers in Microbiology
|
August 9, 2020
Australia: A Continent Without Native Powdery Mildews? The First Comprehensive Catalog Indicates Recent Introductions and Multiple Host Range Expansion Events, and Leads to the Re-discovery of <i>Salmonomyces</i> as a New Lineage of the Erysiphales
Levente Kiss, Niloofar Vaghefi, Kaylene Bransgrove, et al.
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.
Brain Communications
|
October 3, 2025
Clinical and molecular characterization of SLC31A1-related developmental and epileptic encephalopathy: insights from 13 new cases
Natalia Juliá-Palacios, Gerard Muñoz-Pujol, Reza Maroofian, et al.
American Journal of Human Genetics
|
January 17, 2025
Discovery of a DNA methylation profile in individuals with Sifrim-Hitz-Weiss syndrome
Karim Karimi, Yael Lichtenstein, Jack Reilly, et al.
Human Genetics
|
November 8, 2021
MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects
Juliette Coursimault, Anne-Marie Guerrot, Michelle M Morrow, et al.
Science Translational Medicine
|
May 31, 2023
PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production
Frédéric Ebstein, Sébastien Küry, Victoria Most, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 14, 2024
Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders
Elisa Cali, Tania Quirin, Clarissa Rocca, et al.
Nature Genetics
|
October 22, 2025
Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function
Reza Asadollahi, Aisha Ahmad, Paranchai Boonsawat, et al.
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Showing results (11-20 of 19) with videos related to
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You have reached the last page of results.
This site can display upto 19 results.
Frontiers in Microbiology
|
August 9, 2020
Australia: A Continent Without Native Powdery Mildews? The First Comprehensive Catalog Indicates Recent Introductions and Multiple Host Range Expansion Events, and Leads to the Re-discovery of <i>Salmonomyces</i> as a New Lineage of the Erysiphales
Levente Kiss, Niloofar Vaghefi, Kaylene Bransgrove, et al.
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.
Brain Communications
|
October 3, 2025
Clinical and molecular characterization of SLC31A1-related developmental and epileptic encephalopathy: insights from 13 new cases
Natalia Juliá-Palacios, Gerard Muñoz-Pujol, Reza Maroofian, et al.
American Journal of Human Genetics
|
January 17, 2025
Discovery of a DNA methylation profile in individuals with Sifrim-Hitz-Weiss syndrome
Karim Karimi, Yael Lichtenstein, Jack Reilly, et al.
Human Genetics
|
November 8, 2021
MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects
Juliette Coursimault, Anne-Marie Guerrot, Michelle M Morrow, et al.
Science Translational Medicine
|
May 31, 2023
PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production
Frédéric Ebstein, Sébastien Küry, Victoria Most, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 14, 2024
Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders
Elisa Cali, Tania Quirin, Clarissa Rocca, et al.
Nature Genetics
|
October 22, 2025
Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function
Reza Asadollahi, Aisha Ahmad, Paranchai Boonsawat, et al.
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