Mutations in SRCAP, Encoding SNF2-Related CREBBP Activator Protein, Cause Floating-Harbor Syndrome - ScienceDirect
Por um escritor misterioso
Last updated 01 abril 2025

Floating-Harbor syndrome (FHS) is a rare condition characterized by short stature, delayed osseous maturation, expressive-language deficits, and a dis…

Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome.

PDF) Generation of an iPSC line (UMGWi001-B) from a patient with Floating-Harbor Syndrome (FLHS) carrying a heterozygous SRCAP mutation (p.Arg2444)

PDF) Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome

Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome.

16p11.2 de novo microdeletion encompassing SRCAP gene in a patient with speech impairment, global developmental delay and behavioural problems - ScienceDirect

PDF) Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome

PDF) Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome

ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder - ScienceDirect

ATPase SRCAP is a new player in cell division, uncovering molecular aspects of Floating-Harbor syndrome

Identification of a novel de novo mutation of CREBBP in a patient with Rubinstein-Taybi syndrome by targeted next-generation sequencing: a case report - ScienceDirect

PDF) Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome

Identification of a novel de novo mutation of CREBBP in a patient with Rubinstein-Taybi syndrome by targeted next-generation sequencing: a case report - ScienceDirect

PDF) Mendelian disorders of the epigenetic machinery: tipping the balance of chromatin states
Recomendado para você
-
Genes, Free Full-Text01 abril 2025
-
Rubinstein-Taybi Syndrome01 abril 2025
-
Anaesthesia Management in a Child with Rubinstein - Taybi Syndrome01 abril 2025
-
Figure 2. [Broad terminal phalanges (A) and broad, radially deviated thumbs (B)]. - GeneReviews® - NCBI Bookshelf01 abril 2025
-
Figure 2. [Dorsal (A) and palmar (B)]. - GeneReviews® - NCBI Bookshelf01 abril 2025
-
Rubinstein-Taybi Syndrome 2 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials01 abril 2025
-
Extending the clinical and genetic spectrum of ARID2 related intellectual disability. A case series of 7 patients - ScienceDirect01 abril 2025
-
Clinical and mutational spectrum in Korean patients with Rubinstein–Taybi syndrome: The spectrum of brain MRI abnormalities - ScienceDirect01 abril 2025
-
PDF) The behavioral phenotype of Rubinstein–Taybi syndrome: A scoping review of the literature01 abril 2025
-
What is CdLS? Ben and his Brothers: Life with 4 boys and CdLS01 abril 2025
você pode gostar
-
God Games, Hera01 abril 2025
-
Casual Challenge Players' Club/Nintendo Switch/eShop Download01 abril 2025
-
Silent Hill: Townfall, Silent Hill Wiki01 abril 2025
-
Get Mega Tic Tac Toe Online - Microsoft Store en-NF01 abril 2025
-
PSP] God of War: Ghost of Sparta v1.301 abril 2025
-
Como baixar o Steam no seu computador [Windows, macOS e Linux01 abril 2025
-
Caneca FlorK Meme Amor da Minha Vida01 abril 2025
-
Zoro SOLA – música e letra de Byakuran01 abril 2025
-
Classic Final Fantasy Is Dead, But You Can Find Its Soul In New01 abril 2025
-
Browse Kaiju Paradise/TFE Comics - Comic Studio01 abril 2025