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 19 setembro 2024
Genotype–phenotype specificity in Menke–Hennekam syndrome caused
The novel and recurrent variants in exon 31 of CREBBP in Japanese
Further delineation of an entity caused by CREBBP and EP300
Trio‐whole‐exome sequencing and preimplantation genetic diagnosis
A novel rasopathy caused by recurrent de novo missense mutations
Clinical exome sequencing identifies novel CREBBP variants in 18
Community‐based recruitment and exome sequencing indicates high
Novel CLTC variants cause new brain and kidney phenotypes
The novel and recurrent variants in exon 31 of CREBBP in Japanese
Three novel mutations in a group of Chinese patients with X-linked
Genes, Free Full-Text
Recomendado para você
-
Anaesthesia Management in a Child with Rubinstein - Taybi Syndrome19 setembro 2024
-
Rubinstein-Taybi syndrome: Dental manifestations and management19 setembro 2024
-
A mosaic maternal splice donor mutation in the EHMT1 gene leads to aberrant transcripts and to Kleefstra syndrome in the offspring19 setembro 2024
-
genereviews.org - GeneReviews® - NCBI Bookshelf19 setembro 2024
-
PDF) Rubinstein-Taybi syndrome in diverse populations19 setembro 2024
-
The behavioral phenotype of Rubinstein–Taybi syndrome: A scoping review of the literature - Awan - 2022 - American Journal of Medical Genetics Part A - Wiley Online Library19 setembro 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 Gynecology19 setembro 2024
-
Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann–Steiner and Rubinstein–Taybi syndromes19 setembro 2024
-
A novel CREBBP mutation and its phenotype in a case of Rubinstein–Taybi syndrome, BMC Medical Genomics19 setembro 2024
-
A novel CREBBP mutation and its phenotype in a case of Rubinstein19 setembro 2024
você pode gostar
-
Invasão Secreta' vai introduzir Norman Osborn? Membro do elenco19 setembro 2024
-
Kit Festa Redondo Barbie Maquiadora - Decoração Infantil19 setembro 2024
-
Pottermon Crest: Slytherin by Lushies-Art on DeviantArt19 setembro 2024
-
[Tutorial] - Como Liberar tudo do GTA San Andreas [PC e PS2] - [Sem baixar nada]19 setembro 2024
-
Men' s Soccer Clinches NEC Berth with 2-1 Win Over St. Francis NY - FDU Knights Athletics19 setembro 2024
-
battlenet warzone|TikTok Search19 setembro 2024
-
Sonic Frontiers HITS 80 on Metacritic, MORE Frontiers Capcom DLC Coming! (Mega Man, Dante, Ryu?!)19 setembro 2024
-
A brown knight in a veshti, here's how Chess Olympiad's mascot 'Thambi' was created19 setembro 2024
-
Minecraft: Story Mode challenges the way Telltale Games builds its stories19 setembro 2024
-
Parkour for roblox for Android - Download19 setembro 2024