Mutations in SRCAP, Encoding SNF2-Related CREBBP Activator Protein, Cause Floating-Harbor Syndrome - ScienceDirect
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Floating-Harbor syndrome (FHS) is a rare condition characterized by short stature, delayed osseous maturation, expressive-language deficits, and a dis…
The H2A.Z-nucleosome code in mammals: emerging functions: Trends in Genetics
Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature - ScienceDirect
Genomic DNA Methylation Signatures Enable Concurrent Diagnosis and Clinical Genetic Variant Classification in Neurodevelopmental Syndromes - ScienceDirect
Znhit1 controls meiotic initiation in male germ cells by coordinating with Stra8 to activate meiotic gene expression - ScienceDirect
Znhit1 controls meiotic initiation in male germ cells by coordinating with Stra8 to activate meiotic gene expression - ScienceDirect
Single Amino Acid Change Underlies Distinct Roles of H2A.Z Subtypes in Human Syndrome - ScienceDirect
The Human SRCAP Chromatin Remodeling Complex Promotes DNA-End Resection - ScienceDirect
The role of ISWI chromatin remodeling complexes in brain development and neurodevelopmental disorders - ScienceDirect
16p11.2 de novo microdeletion encompassing SRCAP gene in a patient with speech impairment, global developmental delay and behavioural problems - ScienceDirect
ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder - ScienceDirect
PDF) Generation of an iPSC line (UMGWi001-B) from a patient with Floating-Harbor Syndrome (FLHS) carrying a heterozygous SRCAP mutation (p.Arg2444)
Genomic DNA Methylation Signatures Enable Concurrent Diagnosis and Clinical Genetic Variant Classification in Neurodevelopmental Syndromes - ScienceDirect
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