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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.
Biomolecules
|
March 28, 2024
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes
Rebekkah J Hitti-Malin, Daan M Panneman, Zelia Corradi, et al.
American Journal of Human Genetics
|
June 20, 2020
De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay
Lisenka E L M Vissers, Sreehari Kalvakuri, Elke de Boer, et al.
The Netherlands Journal of Medicine
|
January 29, 2016
Safety and long-term effects of renal denervation: Rationale and design of the Dutch registry
M F Sanders, P J Blankestijn, M Voskuil, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
April 21, 2020
Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics
Mubeen Khan, Stéphanie S Cornelis, Marta Del Pozo-Valero, et al.
Medrxiv : the Preprint Server for Health Sciences
|
January 20, 2025
De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa
Mathieu Quinodoz, Kim Rodenburg, Zuzana Cvackova, et al.
Nature Genetics
|
January 9, 2026
De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa
Mathieu Quinodoz, Kim Rodenburg, Zuzana Cvackova, et al.
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of 72
Search research articles
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Showing results (711-720 of 717) with videos related to
Sort By:
Page
of 72
You have reached the last page of results.
This site can display upto 717 results.
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.
Biomolecules
|
March 28, 2024
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes
Rebekkah J Hitti-Malin, Daan M Panneman, Zelia Corradi, et al.
American Journal of Human Genetics
|
June 20, 2020
De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay
Lisenka E L M Vissers, Sreehari Kalvakuri, Elke de Boer, et al.
The Netherlands Journal of Medicine
|
January 29, 2016
Safety and long-term effects of renal denervation: Rationale and design of the Dutch registry
M F Sanders, P J Blankestijn, M Voskuil, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
April 21, 2020
Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics
Mubeen Khan, Stéphanie S Cornelis, Marta Del Pozo-Valero, et al.
Medrxiv : the Preprint Server for Health Sciences
|
January 20, 2025
De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa
Mathieu Quinodoz, Kim Rodenburg, Zuzana Cvackova, et al.
Nature Genetics
|
January 9, 2026
De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa
Mathieu Quinodoz, Kim Rodenburg, Zuzana Cvackova, et al.
Page
of 72