Belfast City Hospital / Ospidéal Chathair Bhéal Feirste
Hospital
Location:
Belfast,
United Kingdom (GB)
ISNI: 0000000105713462
ROR: https://ror.org/02405mj67
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Surveillance recommendations for DICER1 pathogenic variant carriers: a report from the SIOPE Host Genome Working Group and CanGene-CanVar Clinical Guideline Working Group (2022)
Bakhuizen JJ, Hanson H, Van De Tuin K, Lalloo F, Tischkowitz M, Wadt K, Doergeloh BB, et al.
Conference contribution
De novo missense variants in FBXO11 alter its protein expression and subcellular localization (2022)
Gregor A, Meerbrei T, Gerstner T, Toutain A, Lynch SA, Stals K, Maxton C, et al.
Journal article, Original article
Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders (2021)
Gillentine MA, Wang T, Hoekzema K, Rosenfeld J, Liu P, Guo H, Kim CN, et al.
Journal article
Making sense of missense variants in TTN-related congenital myopathies (2021)
Rees M, Nikoopour R, Fukuzawa A, Kho AL, Fernandez-Garcia MA, Wraige E, Bodi I, et al.
Journal article
Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia (2016)
Meyer E, Carss KJ, Rankin J, Nichols JME, Grozeva D, Joseph AP, Mencacci NE, et al.
Journal article
An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes (2015)
Wheway G, Schmidts M, Mans DA, Szymanska K, Nguyen TMT, Racher H, Phelps IG, et al.
Journal article