Identification of de novo EP300 and PLAU variants in a patient
Por um escritor misterioso
Last updated 12 julho 2024
![Identification of de novo EP300 and PLAU variants in a patient](https://media.springernature.com/m685/springer-static/image/art%3A10.1038%2Fs41598-021-95133-0/MediaObjects/41598_2021_95133_Fig1_HTML.jpg)
![Identification of de novo EP300 and PLAU variants in a patient](https://www.ahajournals.org/cms/asset/5148e569-9a3f-402a-a0fb-d334c641918e/jah35739-fig-0001.png)
Genetic Etiology of Left‐Sided Obstructive Heart Lesions: A Story in Development
![Identification of de novo EP300 and PLAU variants in a patient](https://www.researchgate.net/profile/Aswini-Babu/publication/322848036/figure/fig5/AS:704809271296000@1545051033429/Jaw-fin-and-heart-progenitor-populations-are-affected-by-ep300-knockdown-a-d-RNA-in_Q320.jpg)
Jaw, fin and heart progenitor populations are affected by ep300
![Identification of de novo EP300 and PLAU variants in a patient](https://ars.els-cdn.com/content/image/1-s2.0-S1535610820306590-fx1.jpg)
Exploration of Coding and Non-coding Variants in Cancer Using GenomePaint - ScienceDirect
![Identification of de novo EP300 and PLAU variants in a patient](https://www.mdpi.com/biomolecules/biomolecules-12-01643/article_deploy/html/images/biomolecules-12-01643-g001.png)
Biomolecules, Free Full-Text
![Identification of de novo EP300 and PLAU variants in a patient](https://media.springernature.com/m685/springer-static/image/art%3A10.1186%2Fs12920-023-01516-9/MediaObjects/12920_2023_1516_Fig3_HTML.png)
De novo variation in EP300 gene cause Rubinstein-Taybi syndrome 2 in a Chinese family with severe early-onset high myopia, BMC Medical Genomics
![Identification of de novo EP300 and PLAU variants in a patient](https://media.springernature.com/m685/springer-static/image/art%3A10.1186%2Fs12881-018-0548-2/MediaObjects/12881_2018_548_Fig1_HTML.gif)
Rubinstein-Taybi 2 associated to novel EP300 mutations: deepening the clinical and genetic spectrum, BMC Medical Genetics
![Identification of de novo EP300 and PLAU variants in a patient](https://dfzljdn9uc3pi.cloudfront.net/2018/5552/1/Figure_S2.png)
Exome sequencing study of 20 patients with high myopia [PeerJ]
![Identification of de novo EP300 and PLAU variants in a patient](https://d3i71xaburhd42.cloudfront.net/261dd9a8d46fb5b6925f2d700406e461406b7c42/4-Figure2-1.png)
Figure 2 from De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms.
![Identification of de novo EP300 and PLAU variants in a patient](https://media.springernature.com/m685/springer-static/image/art%3A10.1038%2Fs41598-022-15885-1/MediaObjects/41598_2022_15885_Fig1_HTML.png)
Whole-genome sequencing reveals de-novo mutations associated with nonsyndromic cleft lip/palate
![Identification of de novo EP300 and PLAU variants in a patient](https://media.springernature.com/full/springer-static/image/art%3A10.1038%2Fs41467-022-31483-1/MediaObjects/41467_2022_31483_Fig1_HTML.png)
The impact of rare germline variants on human somatic mutation processes
![Identification of de novo EP300 and PLAU variants in a patient](https://media.springernature.com/m685/springer-static/image/art%3A10.1038%2Fs41598-021-95133-0/MediaObjects/41598_2021_95133_Fig4_HTML.jpg)
Identification of de novo EP300 and PLAU variants in a patient with Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal anomaly
![Identification of de novo EP300 and PLAU variants in a patient](https://www.science.org/cms/10.1126/sciadv.abo7112/asset/d097701b-5f09-479e-a11c-72b1820786aa/assets/images/large/sciadv.abo7112-f4.jpg)
De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders
![Identification of de novo EP300 and PLAU variants in a patient](https://media.springernature.com/full/springer-static/image/art%3A10.1038%2Fs41598-021-95133-0/MediaObjects/41598_2021_95133_Fig1_HTML.jpg)
Identification of de novo EP300 and PLAU variants in a patient with Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal anomaly
![Identification of de novo EP300 and PLAU variants in a patient](https://www.researchgate.net/publication/322848036/figure/fig4/AS:704809271316486@1545051033401/Zebrafish-ep300-knockdown-models-Rubinstein-Taybi-Syndrome-2-a-d-Bright-field-images.jpg)
Zebrafish ep300 knockdown models Rubinstein Taybi Syndrome-2. (a-d)
Recomendado para você
-
Forgotten Diseases Research Foundation12 julho 2024
-
Severe persistent pulmonary hypertension in a neonate with12 julho 2024
-
Rubinstein-Taybi syndrome: Dental manifestations and management12 julho 2024
-
Rubinstein Taybi syndrome causes, symptoms, diagnosis, treatment & prognosis12 julho 2024
-
Floating-Harbor syndrome: MedlinePlus Genetics12 julho 2024
-
Silver Russell Syndrome: Most Up-to-Date Encyclopedia, News & Reviews12 julho 2024
-
What is CdLS? Ben and his Brothers: Life with 4 boys and CdLS12 julho 2024
-
A novel CREBBP mutation and its phenotype in a case of Rubinstein–Taybi syndrome, BMC Medical Genomics12 julho 2024
-
Frontiers Behavioral and neuropsychiatric challenges across the lifespan in individuals with Rubinstein-Taybi syndrome12 julho 2024
-
Rubinstein-Taybi syndrome: principal oral and dental disorders and12 julho 2024
você pode gostar
-
The snake-like robot that could help disaster rescue teams12 julho 2024
-
Pokémon a Série: XYZ Abertura PT-PT12 julho 2024
-
O Sistema Botvinnik na Inglesa [XadrezValle] Jogo Rápido 41012 julho 2024
-
Dante's Inferno makes nannies everywhere furious - CNET12 julho 2024
-
Download Anime Boy Profile Picture on PC (Emulator) - LDPlayer12 julho 2024
-
Brasil fecha eliminatórias em 4º, e Rebeca fará quatro finais no Mundial12 julho 2024
-
Best Multiplayer Games on Steam12 julho 2024
-
Ihop: Uma Cadeia De Restaurantes De Panquecas Multinacional Norte-americana Especializada Em Alimentos Para Café Da Manhã. Imagem de Stock Editorial - Imagem de coma, logotipo: 19174800412 julho 2024
-
Serviço de jogos Steam vai passar a oferecer aplicativos e programas, Notícias12 julho 2024
-
Fuuto PI Beware of t/The Man Who Loved a Witch (TV Episode 2022) - IMDb12 julho 2024