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Nature Genetics
|
June 16, 2009
Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response
Gillian I Rice, Jacquelyn Bond, Aruna Asipu, et al.
Neurology
|
June 10, 2016
TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features
Simona Balestrini, Mathieu Milh, Claudia Castiglioni, et al.
European Journal of Human Genetics : EJHG
|
June 3, 2020
A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome
Theodore G Drivas, Dong Li, Divya Nair, 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.
Medrxiv : the Preprint Server for Health Sciences
|
March 3, 2023
Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes
Siwei Chen, Bassel W Abou-Khalil, Zaid Afawi, et al.
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of 13
Search research articles
Search
Showing results (121-130 of 125) with videos related to
Sort By:
Page
of 13
You have reached the last page of results.
This site can display upto 125 results.
Nature Genetics
|
June 16, 2009
Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response
Gillian I Rice, Jacquelyn Bond, Aruna Asipu, et al.
Neurology
|
June 10, 2016
TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features
Simona Balestrini, Mathieu Milh, Claudia Castiglioni, et al.
European Journal of Human Genetics : EJHG
|
June 3, 2020
A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome
Theodore G Drivas, Dong Li, Divya Nair, 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.
Medrxiv : the Preprint Server for Health Sciences
|
March 3, 2023
Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes
Siwei Chen, Bassel W Abou-Khalil, Zaid Afawi, et al.
Page
of 13