Royal Children's Hospital Parkville

Hospital


Location: Melbourne, Australia (AU) AU

ISNI: 0000000406140346

ROR: https://ror.org/02rktxt32

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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Unpublished / Preprint

Publication year

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To

Abstract

Journal

Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7 (2020) Castilla-Vallmanya L, Selmer KK, Dimartino C, Rabionet R, Blanco-Sanchez B, Yang S, Reijnders MRF, et al. Journal article Delineation of the clinical phenotype caused by de novo CLTC variants (2019) Sa MJN, Venselaar H, Wiel L, Trimouille A, Lasseaux E, Naudion S, Lacombe D, et al. Conference contribution Prevalence of FOXC1 Variants in Individuals With a Suspected Diagnosis of Primary Congenital Glaucoma (2019) Siggs OM, Souzeau E, Pasutto F, Dubowsky A, Smith JEH, Taranath D, Pater J, et al. Journal article De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation (2018) Basilicata MF, Bruel AL, Semplicio G, Valsecchi CIK, Aktas T, Duffourd Y, Rumpf T, et al. Journal article Polymorphous low-grade neuroepithelial tumor of the young (PLNTY): an epileptogenic neoplasm with oligodendroglioma-like components, aberrant CD34 expression, and genetic alterations involving the MAP kinase pathway (2017) Huse JT, Snuderl M, Jones DTW, Brathwaite CD, Altman N, Lavi E, Saffery R, et al. Journal article Succinate dehydrogenase (SDH)-deficient renal carcinoma: a morphologically distinct entity: a clinicopathologic series of 36 tumors from 27 patients (2014) Gill AJ, Hes O, Papathomas T, Sedivcova M, Tan PH, Agaimy A, Andresen PA, et al. Journal article Isogenic human pluripotent stem cell pairs reveal the role of a KCNH2 mutation in long-QT syndrome (2013) Bellin M, Casini S, Davis RP, D'Aniello C, Haas J, Ward-Van Oostwaard D, Tertoolen LGJ, et al. Journal article Pathophysiological mechanisms of dominant and recessive GLRA1 mutations in hyperekplexia. (2010) Chung S, Vanbellinghen J, Mullins J, Robinson A, Hantke J, Hammond C, Gilbert D, et al. Journal article, Original article