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A Micheil Innes

Showing results (131-140 of 156) with videos related to

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Brain : a Journal of Neurology|September 15, 2023
TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptionsHashem Almousa, Sara A Lewis, Somayeh Bakhtiari, et al.
Nature Communications|November 10, 2025
Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex compositionGhayda M Mirzaa, Keqin Yan, Raissa Relator, et al.
American Journal of Human Genetics|September 21, 2022
An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndromeSanaa Choufani, Vanda McNiven, Cheryl Cytrynbaum, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 20, 2020
Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variantsLi Xin Zhang, Gabrielle Lemire, Claudia Gonzaga-Jauregui, et al.
Genome Medicine|October 25, 2025
Whole-genome sequencing reveals individual and cohort level insights into chromosome 9p syndromesYingxi Wang, Eleanor I Sams, Rachel Slaugh, et al.
Medrxiv : the Preprint Server for Health Sciences|April 8, 2025
Whole-Genome Sequencing Reveals Individual and Cohort Level Insights into Chromosome 9p SyndromesYingxi Wang, Eleanor I Sams, Rachel Slaugh, et al.
European Journal of Human Genetics : EJHG|January 26, 2019
De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphismsSandra Jansen, Ilse M van der Werf, A Micheil Innes, et al.
American Journal of Human Genetics|October 17, 2024
MARK2 variants cause autism spectrum disorder via the downregulation of WNT/β-catenin signaling pathwayMaolei Gong, Jiayi Li, Zailong Qin, et al.
Nature Communications|May 8, 2021
Loss of function mutations in GEMIN5 cause a neurodevelopmental disorderSukhleen Kour, Deepa S Rajan, Tyler R Fortuna, et al.
American Journal of Human Genetics|January 28, 2021
De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosisPatricia L Weng, Amar J Majmundar, Kamal Khan, et al.
Pageof 16

Showing results (131-140 of 156) with videos related to

Sort By:
Pageof 16
Brain : a Journal of Neurology|September 15, 2023
TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptionsHashem Almousa, Sara A Lewis, Somayeh Bakhtiari, et al.
Nature Communications|November 10, 2025
Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex compositionGhayda M Mirzaa, Keqin Yan, Raissa Relator, et al.
American Journal of Human Genetics|September 21, 2022
An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndromeSanaa Choufani, Vanda McNiven, Cheryl Cytrynbaum, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 20, 2020
Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variantsLi Xin Zhang, Gabrielle Lemire, Claudia Gonzaga-Jauregui, et al.
Genome Medicine|October 25, 2025
Whole-genome sequencing reveals individual and cohort level insights into chromosome 9p syndromesYingxi Wang, Eleanor I Sams, Rachel Slaugh, et al.
Medrxiv : the Preprint Server for Health Sciences|April 8, 2025
Whole-Genome Sequencing Reveals Individual and Cohort Level Insights into Chromosome 9p SyndromesYingxi Wang, Eleanor I Sams, Rachel Slaugh, et al.
European Journal of Human Genetics : EJHG|January 26, 2019
De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphismsSandra Jansen, Ilse M van der Werf, A Micheil Innes, et al.
American Journal of Human Genetics|October 17, 2024
MARK2 variants cause autism spectrum disorder via the downregulation of WNT/β-catenin signaling pathwayMaolei Gong, Jiayi Li, Zailong Qin, et al.
Nature Communications|May 8, 2021
Loss of function mutations in GEMIN5 cause a neurodevelopmental disorderSukhleen Kour, Deepa S Rajan, Tyler R Fortuna, et al.
American Journal of Human Genetics|January 28, 2021
De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosisPatricia L Weng, Amar J Majmundar, Kamal Khan, et al.
Pageof 16