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 Library
Por um escritor misterioso
Last updated 16 julho 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 Library](https://onlinelibrary.wiley.com/cms/asset/58ecbc6a-f363-45ed-8777-c265de76ad64/ajmga62533-fig-0001-m.jpg)
![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 Library](https://i1.rgstatic.net/publication/343853554_A_Novel_CREBBP_in-Frame_Deletion_Variant_in_a_Chinese_Girl_with_Atypical_Rubinstein-Taybi_Syndrome_Phenotypes/links/5fc1d488458515b7977c38d1/largepreview.png)
A Novel CREBBP in-Frame Deletion Variant in a Chinese Girl with
![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 Library](https://i1.rgstatic.net/ii/profile.image/808830355116036-1569851592939_Q64/Paolo-Uva.jpg)
The novel and recurrent variants in exon 31 of CREBBP in Japanese
![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 Library](https://onlinelibrary.wiley.com/cms/asset/91074b86-fef2-4636-a3dc-e3fd90d71b6b/ajmg.a.v164a.7.cover.jpg?trick=1700182095379)
De novo ANKRD11 and KDM1A gene mutations in a male with features
![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 Library](https://i1.rgstatic.net/ii/profile.image/11431281180871259-1691754237868_Q64/Frederique-Magdinier.jpg)
Genotype–phenotype specificity in Menke–Hennekam syndrome caused
![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 Library](https://i1.rgstatic.net/ii/profile.image/272235038507033-1441917299683_Q64/Peter-Robinson-32.jpg)
The novel and recurrent variants in exon 31 of CREBBP in Japanese
![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 Library](https://i1.rgstatic.net/ii/profile.image/973287479836672-1609061226629_Q64/Gerarda-Cappuccio.jpg)
The novel and recurrent variants in exon 31 of CREBBP in Japanese
![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 Library](https://onlinelibrary.wiley.com/cms/asset/58ecbc6a-f363-45ed-8777-c265de76ad64/ajmga62533-fig-0001-m.jpg)
The novel and recurrent variants in exon 31 of CREBBP in Japanese
![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 Library](https://www.researchgate.net/publication/360778370/figure/fig1/AS:1160604123443200@1653720994631/Clinical-aspects-at-the-age-of-seven-months_Q320.jpg)
PDF) Menke–Hennekam Syndrome: A Literature Review and a New Case
![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 Library](https://onlinelibrary.wiley.com/cms/asset/86452279-601c-4029-96e4-8be05a5b5cbe/humu.v43.12.cover.jpg?trick=1698001273170)
Multiple endocrine neoplasia type 2 (MEN2) and RET specific
![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 Library](https://journals.sagepub.com/cms/10.1177/1744806918781140/asset/images/large/10.1177_1744806918781140-fig5.jpeg)
Novel NTRK1 mutations in Chinese patients with congenital
![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 Library](https://media.springernature.com/m685/springer-static/image/art%3A10.1038%2Fs10038-020-00892-9/MediaObjects/10038_2020_892_Fig1_HTML.png)
Novel exon-skipping variant disrupting the basic domain of HCFC1
Recomendado para você
-
Rubinstein-Taybi Syndrome - GeneReviews® - NCBI Bookshelf16 julho 2024
-
Rubinstein Taybi syndrome causes, symptoms, diagnosis, treatment & prognosis16 julho 2024
-
Cureus, Whole-Exome Sequencing Identified a Novel DYRK1A Variant in a Patient With Intellectual Developmental Disorder, Autosomal Dominant 716 julho 2024
-
PDF) An unusual presentation of Rubinstein-Taybi Syndrome with bilateral postaxial polydactyly Corresponding author16 julho 2024
-
Müllerian Agenesis in a patient with Rubinstein-Taybi Syndrome: A Case Series and Review of the Overlapping Developmental Biologic Pathways - Journal of Pediatric and Adolescent Gynecology16 julho 2024
-
Cockayne Syndrome: Most Up-to-Date Encyclopedia, News & Reviews16 julho 2024
-
What is CdLS? Ben and his Brothers: Life with 4 boys and CdLS16 julho 2024
-
Rubinstein–Taybi syndrome in diverse populations - Tekendo‐Ngongang - 2020 - American Journal of Medical Genetics Part A - Wiley Online Library16 julho 2024
-
SciELO - Brasil - Prosthetic rehabilitation of a child with Rubinstein-Taybi Syndrome after dental trauma: case report Prosthetic rehabilitation of a child with Rubinstein-Taybi Syndrome after dental trauma: case report16 julho 2024
-
Rubinstein-Taybi syndrome: principal oral and dental disorders and16 julho 2024
você pode gostar
-
12th Fail' review: An impassioned portrait of a striver16 julho 2024
-
H, Unofficial Alphabet Lore Wiki, Fandom16 julho 2024
-
Sony Playstation 2 PS2 Official OEM MagicGate 8mb Memory Card Genuine SCPH-1002016 julho 2024
-
Anime Corner News on Instagram: JUST IN: SPY x FAMILY Season 2 revealed the preview for episode 1! Follow @animecornernews for more! The anime premieres tomorrow, October 7! #spyxfamily #spyxfamilyanime #anyaforger #yorforger #loidforger16 julho 2024
-
Pearl Valorant: Data de lançamento, layout e tudo sobre o novo16 julho 2024
-
Bad Guy Gacha Life Coloring Pages - Free Printable Coloring Pages16 julho 2024
-
About: FNF Rush Mod Test (Google Play version)16 julho 2024
-
Alpinopolense de 12 anos acha figurinha de 'ouro' de Neymar no primeiro pacote e poderá vender item: 'lendária' - Jornal Folha Regional16 julho 2024
-
Israel's President Visits Turkey in Sign of Thawing Relations - The New York Times16 julho 2024
-
Custom aggregation game boards I make! : r/boardgames16 julho 2024