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Archives of Neurology
|
July 23, 2003
Landau-Kleffner syndrome
Joshua Rotenberg, Phillip L Pearl
HGG Advances
|
September 16, 2021
<i>PTPN4</i> germline variants result in aberrant neurodevelopment and growth
Joanna J Chmielewska, Deepika Burkardt, Jorge Luis Granadillo, et al.
Plos Genetics
|
July 26, 2017
Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially
Xi Luo, Jill A Rosenfeld, Shinya Yamamoto, et al.
American Journal of Medical Genetics. Part A
|
May 3, 2025
Further Delineation of the AUTS2 HX Repeat Domain-Related Phenotype
Esin Nur Erdogan, Chi Vicky Cheng, Stefano G Caraffi, et al.
Genetics in Medicine Open
|
June 5, 2025
Autosomal dominant <i>HK1</i>-related neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA): An emerging mitochondrial disorder
Bobby G Ng, Erik A Eklund, Jill A Rosenfeld, et al.
Human Molecular Genetics
|
August 2, 2023
Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual disability and autistic features
Zhigang Liu, Baozhong Xin, Iris N Smith, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 15, 2019
De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder
Ghayda M Mirzaa, Jessica X Chong, Amélie Piton, et al.
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of 1
Search research articles
Search
Showing results (1-10 of 7) with videos related to
Sort By:
Page
of 1
Archives of Neurology
|
July 23, 2003
Landau-Kleffner syndrome
Joshua Rotenberg, Phillip L Pearl
HGG Advances
|
September 16, 2021
<i>PTPN4</i> germline variants result in aberrant neurodevelopment and growth
Joanna J Chmielewska, Deepika Burkardt, Jorge Luis Granadillo, et al.
Plos Genetics
|
July 26, 2017
Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially
Xi Luo, Jill A Rosenfeld, Shinya Yamamoto, et al.
American Journal of Medical Genetics. Part A
|
May 3, 2025
Further Delineation of the AUTS2 HX Repeat Domain-Related Phenotype
Esin Nur Erdogan, Chi Vicky Cheng, Stefano G Caraffi, et al.
Genetics in Medicine Open
|
June 5, 2025
Autosomal dominant <i>HK1</i>-related neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA): An emerging mitochondrial disorder
Bobby G Ng, Erik A Eklund, Jill A Rosenfeld, et al.
Human Molecular Genetics
|
August 2, 2023
Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual disability and autistic features
Zhigang Liu, Baozhong Xin, Iris N Smith, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 15, 2019
De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder
Ghayda M Mirzaa, Jessica X Chong, Amélie Piton, et al.
Page
of 1