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The New England Journal of Medicine
|
July 3, 2024
Aggregating the Loose Threads
Sonya Davey, Vijay S Ganesh, Anthony A Amato, et al.
HGG Advances
|
February 22, 2025
Male proband with intractable seizures and a de novo start-codon-disrupting variant in GLUL
Elizabeth Carbonell, Sarah L Stenton, Vijay S Ganesh, et al.
Human Molecular Genetics
|
November 7, 2007
Genomic and functional profiling of human Down syndrome neural progenitors implicates S100B and aquaporin 4 in cell injury
Giuseppe Esposito, Jaime Imitola, Jie Lu, et al.
Molecular Genetics and Metabolism Reports
|
September 17, 2025
Lethal neonatal acidosis: Multiomic investigation of a novel <i>HIBCH</i> variant as the underlying cause
Sonali Patel, Muhammad Zain-Ul-Abideen, Genevieve Guyol, et al.
Nature Genetics
|
December 3, 2003
Mutations in ARFGEF2 implicate vesicle trafficking in neural progenitor proliferation and migration in the human cerebral cortex
Volney L Sheen, Vijay S Ganesh, Meral Topcu, et al.
Brain & Development
|
May 29, 2004
Etiological heterogeneity of familial periventricular heterotopia and hydrocephalus
Volney L Sheen, Lina Basel-Vanagaite, Jean R Goodman, et al.
The Journal of Neuropsychiatry and Clinical Neurosciences
|
April 24, 2026
Case Study 11: A 67-Year-Old Man With Behavioral Disturbances and Frequent Falls
Syed Kamal, Naomi Kennel, Alice M Li, et al.
Iscience
|
June 13, 2024
<i>De novo</i> <i>TLK1</i> and <i>MDM1</i> mutations in a patient with a neurodevelopmental disorder and immunodeficiency
Marina Villamor-Payà, María Sanchiz-Calvo, Jordann Smak, et al.
Medrxiv : the Preprint Server for Health Sciences
|
September 4, 2023
Identification of a <i>de novo</i> mutation in <i>TLK1</i> associated with a neurodevelopmental disorder and immunodeficiency
Marina Villamor-Payà, María Sanchiz-Calvo, Jordann Smak, et al.
American Journal of Human Genetics
|
November 27, 2010
A homozygous mutation in the tight-junction protein JAM3 causes hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts
Ganeshwaran H Mochida, Vijay S Ganesh, Jillian M Felie, et al.
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Search research articles
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Showing results (1-10 of 43) with videos related to
Sort By:
Page
of 5
The New England Journal of Medicine
|
July 3, 2024
Aggregating the Loose Threads
Sonya Davey, Vijay S Ganesh, Anthony A Amato, et al.
HGG Advances
|
February 22, 2025
Male proband with intractable seizures and a de novo start-codon-disrupting variant in GLUL
Elizabeth Carbonell, Sarah L Stenton, Vijay S Ganesh, et al.
Human Molecular Genetics
|
November 7, 2007
Genomic and functional profiling of human Down syndrome neural progenitors implicates S100B and aquaporin 4 in cell injury
Giuseppe Esposito, Jaime Imitola, Jie Lu, et al.
Molecular Genetics and Metabolism Reports
|
September 17, 2025
Lethal neonatal acidosis: Multiomic investigation of a novel <i>HIBCH</i> variant as the underlying cause
Sonali Patel, Muhammad Zain-Ul-Abideen, Genevieve Guyol, et al.
Nature Genetics
|
December 3, 2003
Mutations in ARFGEF2 implicate vesicle trafficking in neural progenitor proliferation and migration in the human cerebral cortex
Volney L Sheen, Vijay S Ganesh, Meral Topcu, et al.
Brain & Development
|
May 29, 2004
Etiological heterogeneity of familial periventricular heterotopia and hydrocephalus
Volney L Sheen, Lina Basel-Vanagaite, Jean R Goodman, et al.
The Journal of Neuropsychiatry and Clinical Neurosciences
|
April 24, 2026
Case Study 11: A 67-Year-Old Man With Behavioral Disturbances and Frequent Falls
Syed Kamal, Naomi Kennel, Alice M Li, et al.
Iscience
|
June 13, 2024
<i>De novo</i> <i>TLK1</i> and <i>MDM1</i> mutations in a patient with a neurodevelopmental disorder and immunodeficiency
Marina Villamor-Payà, María Sanchiz-Calvo, Jordann Smak, et al.
Medrxiv : the Preprint Server for Health Sciences
|
September 4, 2023
Identification of a <i>de novo</i> mutation in <i>TLK1</i> associated with a neurodevelopmental disorder and immunodeficiency
Marina Villamor-Payà, María Sanchiz-Calvo, Jordann Smak, et al.
American Journal of Human Genetics
|
November 27, 2010
A homozygous mutation in the tight-junction protein JAM3 causes hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts
Ganeshwaran H Mochida, Vijay S Ganesh, Jillian M Felie, et al.
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of 5