Sheffield Children's NHS Foundation Trust

Hospital


Location: Sheffield, United Kingdom (GB) GB

ISNI: 0000000404639178

ROR: https://ror.org/02md8hv62

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Types of publications

Journal article
Book chapter / Article in edited volumes
Authored book
Translation
Thesis
Edited Volume
Conference contribution
Other publication type
Unpublished / Preprint

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Abstract

Journal

Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila (2018) Straub J, Konrad E, Grüner J, Toutain A, Bok LA, Cho MT, Crawford HP, et al. Journal article Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing (2016) Sifrim A, Hitz MP, Wilsdon A, Breckpot J, Al Turki SH, Thienpont B, Mcrae J, et al. Journal article
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