A mosaic maternal splice donor mutation in the EHMT1 gene leads to aberrant transcripts and to Kleefstra syndrome in the offspring
Por um escritor misterioso
Last updated 08 setembro 2024
![A mosaic maternal splice donor mutation in the EHMT1 gene leads to aberrant transcripts and to Kleefstra syndrome in the offspring](https://media.springernature.com/full/springer-static/image/art%3A10.1038%2Fejhg.2012.267/MediaObjects/41431_2013_Article_BFejhg2012267_Fig1_HTML.jpg)
![A mosaic maternal splice donor mutation in the EHMT1 gene leads to aberrant transcripts and to Kleefstra syndrome in the offspring](https://www.researchgate.net/publication/370853069/figure/fig2/AS:11431281159585150@1684416929846/Micronuclei-and-cell-cycle-distribution-a-Quantification-of-micronucleus-formation-LCLs_Q320.jpg)
Andreas Tzschach's research works
![A mosaic maternal splice donor mutation in the EHMT1 gene leads to aberrant transcripts and to Kleefstra syndrome in the offspring](https://ars.els-cdn.com/content/image/1-s2.0-S002839081200562X-gr1.jpg)
An epigenetic framework for neurodevelopmental disorders: From
![A mosaic maternal splice donor mutation in the EHMT1 gene leads to aberrant transcripts and to Kleefstra syndrome in the offspring](https://media.springernature.com/m685/springer-static/image/art%3A10.1038%2Fejhg.2012.267/MediaObjects/41431_2013_Article_BFejhg2012267_Fig2_HTML.jpg)
A mosaic maternal splice donor mutation in the EHMT1 gene leads to
![A mosaic maternal splice donor mutation in the EHMT1 gene leads to aberrant transcripts and to Kleefstra syndrome in the offspring](https://www.researchgate.net/profile/Raul-Urrutia/publication/312100604/figure/fig4/AS:451360652042245@1484624173712/Interaction-of-EHMT1-with-the-dimethylated-histone-H3-Lys9-peptide_Q320.jpg)
PDF) A Novel Kleefstra Syndrome Associated Variant that Affects
![A mosaic maternal splice donor mutation in the EHMT1 gene leads to aberrant transcripts and to Kleefstra syndrome in the offspring](https://media.springernature.com/full/springer-static/image/art%3A10.1038%2Fs41431-023-01339-3/MediaObjects/41431_2023_1339_Fig1_HTML.png)
Abstracts from the 55th European Society of Human Genetics (ESHG
![A mosaic maternal splice donor mutation in the EHMT1 gene leads to aberrant transcripts and to Kleefstra syndrome in the offspring](https://cdn.genecards.org/rna-expression-v5-18/gene_expression_EHMT1.png)
EHMT1 Gene - GeneCards, EHMT1 Protein
![A mosaic maternal splice donor mutation in the EHMT1 gene leads to aberrant transcripts and to Kleefstra syndrome in the offspring](https://www.neurology.org/cms/10.1212/NXG.0000000000000058/asset/0991e932-a0c0-41dd-995d-0f40877685cd/assets/graphic/14ff1.jpeg)
Reversible white matter lesions associated with mutant EHMT1 and
![A mosaic maternal splice donor mutation in the EHMT1 gene leads to aberrant transcripts and to Kleefstra syndrome in the offspring](https://d3i71xaburhd42.cloudfront.net/9e3d82bdc6da8b0455fc5f9e5b512939d3b46480/3-Figure1-3-1.png)
A Mosaic Maternal Splice Donor Mutation In The EHMT1 Gene, 59% OFF
![A mosaic maternal splice donor mutation in the EHMT1 gene leads to aberrant transcripts and to Kleefstra syndrome in the offspring](https://pub.mdpi-res.com/genes/genes-11-00344/article_deploy/html/images/genes-11-00344-ag.png?1585804133)
Genes, Free Full-Text
![A mosaic maternal splice donor mutation in the EHMT1 gene leads to aberrant transcripts and to Kleefstra syndrome in the offspring](https://media.springernature.com/w290h158/springer-static/image/art%3A10.1038%2Fejhg.2012.171/MediaObjects/41431_2013_Article_BFejhg2012171_Fig1_HTML.jpg)
Short Report in 2012 European Journal of Human Genetics
A de novo splice site mutation in EHMT1 resulting in Kleefstra
EHMT1 Gene - GeneCards, EHMT1 Protein
![A mosaic maternal splice donor mutation in the EHMT1 gene leads to aberrant transcripts and to Kleefstra syndrome in the offspring](https://europepmc.org/articles/PMC9462920/bin/nihms-1832813-f0001.jpg)
Reprogramming of the epigenome in neurodevelopmental disorders
![A mosaic maternal splice donor mutation in the EHMT1 gene leads to aberrant transcripts and to Kleefstra syndrome in the offspring](https://onlinelibrary.wiley.com/cms/asset/4feab385-690a-4dc8-b6c8-9f37313bb629/ajmg.a.v176.12.cover.jpg?trick=1699430969874)
Intellectual disability due to monoallelic variant in GATAD2B and
Recomendado para você
-
Severe persistent pulmonary hypertension in a neonate with08 setembro 2024
-
Figure 2. [Broad terminal phalanges (A) and broad, radially deviated thumbs (B)]. - GeneReviews® - NCBI Bookshelf08 setembro 2024
-
Figure 2. [Dorsal (A) and palmar (B)]. - GeneReviews® - NCBI Bookshelf08 setembro 2024
-
The novel and recurrent variants in exon 31 of CREBBP in Japanese patients with Menke–Hennekam syndrome - Nishi - 2022 - American Journal of Medical Genetics Part A - Wiley Online Library08 setembro 2024
-
Floating-Harbor syndrome: MedlinePlus Genetics08 setembro 2024
-
PDF) An unusual presentation of Rubinstein-Taybi Syndrome with bilateral postaxial polydactyly Corresponding author08 setembro 2024
-
NRF1 Association with AUTS2-Polycomb Mediates Specific Gene Activation in the Brain08 setembro 2024
-
What is CdLS? Ben and his Brothers: Life with 4 boys and CdLS08 setembro 2024
-
Beckwith-Wiedemann Syndrome - GeneReviews® - NCBI Bookshelf08 setembro 2024
-
Approach to inherited hypertrichosis: A brief review - Indian Journal of Dermatology, Venereology and Leprology08 setembro 2024
você pode gostar
-
Leigan!: outubro 201708 setembro 2024
-
Deriva Online de Carros – Apps no Google Play08 setembro 2024
-
jogos de ônibus da cidade 3d versão móvel andróide iOS apk baixar gratuitamente-TapTap08 setembro 2024
-
SBT exibe 6ª temporada de Diários de um Vampiro08 setembro 2024
-
Dr. Stone Season 3 Episode 16: Release Date & Predictions08 setembro 2024
-
I Got a Cheat Skill in Another World Season 2: Release Date08 setembro 2024
-
Aspapi-RS Peritos em Impressões Digitais do RS08 setembro 2024
-
Kiyoe on X: Isekai Meikyuu de Harem wo Volume 10 Illust. / X08 setembro 2024
-
INTP Famous People – 50 Popular Public Figures You Know08 setembro 2024
-
Sudoku Large Print Easy: Large Print Sudoku Puzzle Book For Adults & Seniors With 120 Easy Sudoku Puzzles - Volume 3 (Large Print / Paperback)08 setembro 2024