Rubinstein‐Taybi syndrome in Chinese population with four novel mutations - Yu - 2021 - American Journal of Medical Genetics Part A - Wiley Online Library
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Last updated 28 agosto 2024
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Identification of the genetic basis of sporadic polydactyly in China by targeted sequencing - ScienceDirect
![Rubinstein‐Taybi syndrome in Chinese population with four novel mutations - Yu - 2021 - American Journal of Medical Genetics Part A - Wiley Online Library](https://iiif.elifesciences.org/lax:74970%2Felife-74970-fig2-v2.tif/full/,1500/0/default.jpg)
The missing link between genetic association and regulatory function
![Rubinstein‐Taybi syndrome in Chinese population with four novel mutations - Yu - 2021 - American Journal of Medical Genetics Part A - Wiley Online Library](https://onlinelibrary.wiley.com/cms/asset/089c1bc9-47a8-48bf-903e-12348258f15e/ajmga63483-fig-0001-m.jpg)
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Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome - Sheppard - 2021 - American Journal of Medical Genetics Part A - Wiley Online Library
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Clinical study and genetic analysis of Cornelia de Lange syndrome caused by a novel MAU2 gene variant in a Chinese boy - Peng - Molecular Genetics & Genomic Medicine - Wiley Online Library
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The natural history of adults with Rubinstein-Taybi syndrome: a families-reported experience
![Rubinstein‐Taybi syndrome in Chinese population with four novel mutations - Yu - 2021 - American Journal of Medical Genetics Part A - Wiley Online Library](https://i1.rgstatic.net/publication/233539475_Rubinstein-Taybi_syndrome_Clinical_profile_of_11_patients_and_review_of_literature/links/591af54e0f7e9beed7f60058/largepreview.png)
PDF) Rubinstein-Taybi syndrome: Clinical profile of 11 patients and review of literature
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A Novel CREBBP in-Frame Deletion Variant in a Chinese Girl with Atypical Rubinstein–Taybi Syndrome Phenotypes
![Rubinstein‐Taybi syndrome in Chinese population with four novel mutations - Yu - 2021 - American Journal of Medical Genetics Part A - Wiley Online Library](https://i1.rgstatic.net/publication/344423248_Rubinstein-Taybi_syndrome_in_diverse_populations/links/6072a37ba6fdcc5f7798497a/largepreview.png)
PDF) Rubinstein-Taybi syndrome in diverse populations
![Rubinstein‐Taybi syndrome in Chinese population with four novel mutations - Yu - 2021 - American Journal of Medical Genetics Part A - Wiley Online Library](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 mutations - Yu - 2021 - American Journal of Medical Genetics Part A - Wiley Online Library
![Rubinstein‐Taybi syndrome in Chinese population with four novel mutations - Yu - 2021 - American Journal of Medical Genetics Part A - Wiley Online Library](https://onlinelibrary.wiley.com/cms/asset/788505c9-dd5b-4ed2-bc06-19359d6eab1e/ajmga61888-fig-0002-m.jpg)
Rubinstein–Taybi syndrome in diverse populations - Tekendo‐Ngongang - 2020 - American Journal of Medical Genetics Part A - Wiley Online Library
![Rubinstein‐Taybi syndrome in Chinese population with four novel mutations - Yu - 2021 - American Journal of Medical Genetics Part A - Wiley Online Library](https://iiif.elifesciences.org/lax:74970%2Felife-74970-fig1-figsupp2-v2.tif/full/1500,/0/default.jpg)
The missing link between genetic association and regulatory function
![Rubinstein‐Taybi syndrome in Chinese population with four novel mutations - Yu - 2021 - American Journal of Medical Genetics Part A - Wiley Online Library](https://media.springernature.com/full/springer-static/image/art%3A10.1038%2Fejhg.2010.1/MediaObjects/41431_2010_Article_BFejhg20101_Fig1_HTML.jpg)
High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis
![Rubinstein‐Taybi syndrome in Chinese population with four novel mutations - Yu - 2021 - American Journal of Medical Genetics Part A - Wiley Online Library](https://onlinelibrary.wiley.com/cms/asset/4c068d8f-3300-4901-80bc-b72ac45c4d4a/ajmga62852-fig-0001-m.jpg)
TTC5 syndrome: Clinical and molecular spectrum of a severe and recognizable condition - Musante - 2022 - American Journal of Medical Genetics Part A - Wiley Online Library
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