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Showing results (711-720 of 717) with videos related to

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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 episignatureRemzi 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 GenesRebekkah 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 DelayLisenka 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 registryM 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 transcriptomicsMubeen 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 pigmentosaMathieu 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 pigmentosaMathieu Quinodoz, Kim Rodenburg, Zuzana Cvackova, et al.
Pageof 72

Showing results (711-720 of 717) with videos related to

Sort By:
Pageof 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 episignatureRemzi 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 GenesRebekkah 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 DelayLisenka 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 registryM 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 transcriptomicsMubeen 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 pigmentosaMathieu 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 pigmentosaMathieu Quinodoz, Kim Rodenburg, Zuzana Cvackova, et al.
Pageof 72