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Human Mutation
|
January 4, 2020
Loss of RAD9B impairs early neural development and contributes to the risk for human spina bifida
Xuanye Cao, Tian Tian, John W Steele, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
December 17, 2021
Systems biology analysis of human genomes points to key pathways conferring spina bifida risk
Vanessa Aguiar-Pulido, Paul Wolujewicz, Alexander Martinez-Fundichely, et al.
Journal of Medical Genetics
|
January 25, 2024
De novo heterozygous missense variants in <i>CELSR1</i> as cause of fetal pleural effusions and progressive fetal hydrops
Maayke A de Koning, Paula A Pimienta Ramirez, Monique C Haak, et al.
Human Molecular Genetics
|
January 29, 2019
The TFAP2A-IRF6-GRHL3 genetic pathway is conserved in neurulation
Youssef A Kousa, Huiping Zhu, Walid D Fakhouri, et al.
American Journal of Medical Genetics. Part A
|
March 21, 2023
Exome-wide assessment of isolated biliary atresia: A report from the National Birth Defects Prevention Study using child-parent trios and a case-control design to identify novel rare variants
Pagna Sok, Aniko Sabo, Lynn M Almli, et al.
Nature Genetics
|
March 14, 2017
Disruption of the ATXN1-CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans
Hsiang-Chih Lu, Qiumin Tan, Maxime W C Rousseaux, et al.
American Journal of Human Genetics
|
May 30, 2024
MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature
Remzi Karayol, Maria Carla Borroto, Sadegheh Haghshenas, et al.
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Search research articles
Search
Showing results (51-60 of 57) with videos related to
Sort By:
Page
of 6
You have reached the last page of results.
This site can display upto 57 results.
Human Mutation
|
January 4, 2020
Loss of RAD9B impairs early neural development and contributes to the risk for human spina bifida
Xuanye Cao, Tian Tian, John W Steele, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
December 17, 2021
Systems biology analysis of human genomes points to key pathways conferring spina bifida risk
Vanessa Aguiar-Pulido, Paul Wolujewicz, Alexander Martinez-Fundichely, et al.
Journal of Medical Genetics
|
January 25, 2024
De novo heterozygous missense variants in <i>CELSR1</i> as cause of fetal pleural effusions and progressive fetal hydrops
Maayke A de Koning, Paula A Pimienta Ramirez, Monique C Haak, et al.
Human Molecular Genetics
|
January 29, 2019
The TFAP2A-IRF6-GRHL3 genetic pathway is conserved in neurulation
Youssef A Kousa, Huiping Zhu, Walid D Fakhouri, et al.
American Journal of Medical Genetics. Part A
|
March 21, 2023
Exome-wide assessment of isolated biliary atresia: A report from the National Birth Defects Prevention Study using child-parent trios and a case-control design to identify novel rare variants
Pagna Sok, Aniko Sabo, Lynn M Almli, et al.
Nature Genetics
|
March 14, 2017
Disruption of the ATXN1-CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans
Hsiang-Chih Lu, Qiumin Tan, Maxime W C Rousseaux, et al.
American Journal of Human Genetics
|
May 30, 2024
MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature
Remzi Karayol, Maria Carla Borroto, Sadegheh Haghshenas, et al.
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of 6