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American Journal of Human Genetics
|
April 18, 2023
SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability
Elke Bogaert, Aurore Garde, Thierry Gautier, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 17, 2022
Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort
Pleuntje J van der Sluijs, Marieke Joosten, Caroline Alby, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 6, 2023
Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort
Pleuntje J van der Sluijs, Marieke Joosten, Caroline Alby, et al.
Nature
|
March 27, 2025
The contribution of de novo coding mutations to meningomyelocele
Yoo-Jin Jiny Ha, Ashna Nisal, Isaac Tang, et al.
Science (New York, N.Y.)
|
May 2, 2024
Risk of meningomyelocele mediated by the common 22q11.2 deletion
Keng Ioi Vong, Sangmoon Lee, Kit Sing Au, et al.
Nature Communications
|
August 22, 2024
Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy
Emily Banks, Vincent Francis, Sheng-Jia Lin, et al.
Medrxiv : the Preprint Server for Health Sciences
|
February 14, 2024
Loss of symmetric cell division of apical neural progenitors drives <i>DENND5A</i>-related developmental and epileptic encephalopathy
Emily Banks, Vincent Francis, Sheng-Jia Lin, et al.
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Search research articles
Search
Showing results (151-160 of 157) with videos related to
Sort By:
Page
of 16
You have reached the last page of results.
This site can display upto 157 results.
American Journal of Human Genetics
|
April 18, 2023
SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability
Elke Bogaert, Aurore Garde, Thierry Gautier, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 17, 2022
Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort
Pleuntje J van der Sluijs, Marieke Joosten, Caroline Alby, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 6, 2023
Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort
Pleuntje J van der Sluijs, Marieke Joosten, Caroline Alby, et al.
Nature
|
March 27, 2025
The contribution of de novo coding mutations to meningomyelocele
Yoo-Jin Jiny Ha, Ashna Nisal, Isaac Tang, et al.
Science (New York, N.Y.)
|
May 2, 2024
Risk of meningomyelocele mediated by the common 22q11.2 deletion
Keng Ioi Vong, Sangmoon Lee, Kit Sing Au, et al.
Nature Communications
|
August 22, 2024
Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy
Emily Banks, Vincent Francis, Sheng-Jia Lin, et al.
Medrxiv : the Preprint Server for Health Sciences
|
February 14, 2024
Loss of symmetric cell division of apical neural progenitors drives <i>DENND5A</i>-related developmental and epileptic encephalopathy
Emily Banks, Vincent Francis, Sheng-Jia Lin, et al.
Page
of 16