Clinical and mutational spectrum in Korean patients with Rubinstein–Taybi syndrome: The spectrum of brain MRI abnormalities - ScienceDirect
Por um escritor misterioso
Last updated 31 julho 2024
![Clinical and mutational spectrum in Korean patients with Rubinstein–Taybi syndrome: The spectrum of brain MRI abnormalities - ScienceDirect](https://ars.els-cdn.com/content/image/1-s2.0-S0387760414001843-gr1.jpg)
![Clinical and mutational spectrum in Korean patients with Rubinstein–Taybi syndrome: The spectrum of brain MRI abnormalities - ScienceDirect](https://onlinelibrary.wiley.com/cms/asset/baa22700-c371-4390-ae08-3373eb1887f9/ajmgb32628-fig-0006-m.jpg)
Rubinstein–Taybi syndrome: New neuroradiological and
![Clinical and mutational spectrum in Korean patients with Rubinstein–Taybi syndrome: The spectrum of brain MRI abnormalities - ScienceDirect](https://ars.els-cdn.com/content/image/1-s2.0-S2589986422000314-gr3.jpg)
PRRT2 mutation in a Japanese woman: Adult-onset focal epilepsy
![Clinical and mutational spectrum in Korean patients with Rubinstein–Taybi syndrome: The spectrum of brain MRI abnormalities - ScienceDirect](https://onlinelibrary.wiley.com/cms/asset/4552c5ad-7044-422e-86ec-3b9bd2668b9a/mfig002.jpg)
Rubinstein–Taybi syndrome associated with Chiari type I
![Clinical and mutational spectrum in Korean patients with Rubinstein–Taybi syndrome: The spectrum of brain MRI abnormalities - ScienceDirect](https://onlinelibrary.wiley.com/cms/asset/42a3a70d-a81e-49ad-9364-35d493378459/ajmgb32628-fig-0005-m.jpg)
Rubinstein–Taybi syndrome: New neuroradiological and
![Clinical and mutational spectrum in Korean patients with Rubinstein–Taybi syndrome: The spectrum of brain MRI abnormalities - ScienceDirect](https://ars.els-cdn.com/content/image/1-s2.0-S2211034820301589-gr4.jpg)
Is Asian type MS an MS phenotype, an NMO spectrum disorder, or a
![Clinical and mutational spectrum in Korean patients with Rubinstein–Taybi syndrome: The spectrum of brain MRI abnormalities - ScienceDirect](https://www.researchgate.net/publication/324009457/figure/fig1/AS:867270746193921@1583784867257/A-CMA-image-showing-a-31-Mb-deletion-at-15q241q242-chr15-72-969-435e76-071-744_Q320.jpg)
PDF) Application of chromosome microarray analysis in patients
![Clinical and mutational spectrum in Korean patients with Rubinstein–Taybi syndrome: The spectrum of brain MRI abnormalities - ScienceDirect](https://ars.els-cdn.com/content/image/1-s2.0-S0002929712002613-gr3.jpg)
Translocations Disrupting PHF21A in the Potocki-Shaffer-Syndrome
![Clinical and mutational spectrum in Korean patients with Rubinstein–Taybi syndrome: The spectrum of brain MRI abnormalities - ScienceDirect](https://jmg.bmj.com/content/jmedgenet/58/4/237/F2.large.jpg)
Bi-allelic TTC5 variants cause delayed developmental milestones
![Clinical and mutational spectrum in Korean patients with Rubinstein–Taybi syndrome: The spectrum of brain MRI abnormalities - ScienceDirect](https://i1.rgstatic.net/publication/324009457_Application_of_chromosome_microarray_analysis_in_patients_with_unexplained_developmental_delayintellectual_disability_in_South_China/links/5e66a395299bf1744f6d4775/largepreview.png)
PDF) Application of chromosome microarray analysis in patients
![Clinical and mutational spectrum in Korean patients with Rubinstein–Taybi syndrome: The spectrum of brain MRI abnormalities - ScienceDirect](https://ars.els-cdn.com/content/image/1-s2.0-S0002929712002613-gr6.jpg)
Translocations Disrupting PHF21A in the Potocki-Shaffer-Syndrome
![Clinical and mutational spectrum in Korean patients with Rubinstein–Taybi syndrome: The spectrum of brain MRI abnormalities - ScienceDirect](https://onlinelibrary.wiley.com/cms/asset/c6f51067-cd22-4999-840d-062cc0dd72f1/ajmga61888-fig-0005-m.jpg)
Rubinstein–Taybi syndrome in diverse populations - Tekendo
![Clinical and mutational spectrum in Korean patients with Rubinstein–Taybi syndrome: The spectrum of brain MRI abnormalities - ScienceDirect](https://onlinelibrary.wiley.com/cms/asset/acbd42bd-0f6c-4a75-81f9-1e56cfe674b0/ajmga61922-fig-0001-m.jpg)
Rubinstein‐Taybi syndrome in Chinese population with four novel
![Clinical and mutational spectrum in Korean patients with Rubinstein–Taybi syndrome: The spectrum of brain MRI abnormalities - ScienceDirect](https://www.mdpi.com/ijms/ijms-16-05697/article_deploy/html/images/ijms-16-05697-g001a.png)
IJMS, Free Full-Text
![Clinical and mutational spectrum in Korean patients with Rubinstein–Taybi syndrome: The spectrum of brain MRI abnormalities - ScienceDirect](https://ars.els-cdn.com/content/image/1-s2.0-S2213158218303589-gr3.jpg)
Anatomical and functional abnormalities on MRI in kabuki syndrome
Recomendado para você
-
Figure 2. [Broad terminal phalanges (A) and broad, radially deviated thumbs (B)]. - GeneReviews® - NCBI Bookshelf31 julho 2024
-
Figure 2. [Dorsal (A) and palmar (B)]. - GeneReviews® - NCBI Bookshelf31 julho 2024
-
Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature31 julho 2024
-
Cockayne Syndrome: Most Up-to-Date Encyclopedia, News & Reviews31 julho 2024
-
PDF) The behavioral phenotype of Rubinstein–Taybi syndrome: A scoping review of the literature31 julho 2024
-
Somatic and germ‐line mosaicism in Rubinstein–Taybi syndrome - Chiang - 2009 - American Journal of Medical Genetics Part A - Wiley Online Library31 julho 2024
-
Expanding the phenotype associated to KMT2A variants: overlapping31 julho 2024
-
Frontiers Behavioral and neuropsychiatric challenges across the lifespan in individuals with Rubinstein-Taybi syndrome31 julho 2024
-
Approach to inherited hypertrichosis: A brief review - Indian Journal of Dermatology, Venereology and Leprology31 julho 2024
-
(PDF) Identification of de novo EP300 and PLAU variants in a31 julho 2024
você pode gostar
-
Alphaville Dom Pedro Zero-373 Lotes Residenciais a partir De 400m²31 julho 2024
-
10 Funny Gift Ideas for Under $20 - The Super Mom Life31 julho 2024
-
ArtStation - Japanese Cyberpunk Bar31 julho 2024
-
Driftmark Ep7 Breakdown! (House of the Dragon)31 julho 2024
-
Re: Zero: 10 Hilarious Memes About The Anime That Help Us Hide The Pain31 julho 2024
-
How Marvel Comics Doomed The Amazing Spider-Man 2's Green Goblin31 julho 2024
-
Mapa Portugal Com Regiões E Pavilhão Desenhar E Cortar Ilustração Stock - Ilustração de liberdade, desenho: 25550804831 julho 2024
-
Poppy Playtime Chapter 2's Secret Ending Shows Poppy's Dark Side31 julho 2024
-
Are People Really Wearing High Heels Again? - The New York Times31 julho 2024
-
Yakuza - Baka Mitai Duet version with lyrics and English31 julho 2024