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Kara Ranguin

4PUBLICATIONS

92CO-AUTHORS

Epigenetics (incl. genome methylation and epigenomics)Linguistic structures (incl. phonology, morphology and syntax)Molecular targetsGene and molecular therapy

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Publications (4)

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|Mar 10, 2023

Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice.

Sarah E Sheppard, Laura Bryant, Rochelle N Wickramasekara

|Apr 28, 2021

Speech and language deficits are central to SETBP1 haploinsufficiency disorder.

Angela Morgan, Ruth Braden, Maggie M K Wong

|Dec 16, 2020

Functional analysis of <i>TLK2</i> variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis.

Lisa Pavinato, Marina Villamor-Payà, Maria Sanchiz-Calvo

|Aug 14, 2020

Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complications.

Christina Lissewski, Valérie Chune, Francesca Pantaleoni

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