Children's Hospital of The King's Daughters

Hospital


Location: Norfolk, United Kingdom (GB) GB

ISNI: 0000000404261259

ROR: https://ror.org/047nnbj13

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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Unpublished / Preprint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

ARID1B-related disorder in 87 adults: Natural history and self-sustainability (2024) van der Sluijs PJ, Gösgens M, Dingemans AJ, Striano P, Riva A, Mignot C, Faudet A, et al. Journal article CAMTA1-related disorder: Phenotypic and molecular characterization of 26 new individuals and literature review (2023) Al-Kateb H, Au PY, Berland S, Cogne B, Demurger F, Fluss J, Isidor B, et al. Journal article Brain Abnormalities in Patients with Germline Variants in H3F3: Novel Imaging Findings and Neurologic Symptoms Beyond Somatic Variants and Brain Tumors (2022) Alves CA, Sherbini O, D’Arco F, Steel D, Kurian MA, Radio FC, Ferrero GB, et al. Journal article EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum (2022) Hüffmeier U, Kraus C, Reuter M, Uebe S, Abbott MA, Ahmed SA, Rawson KL, et al. Conference contribution EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum (2021) Hüffmeier U, Kraus C, Reuter M, Uebe S, Abbott MA, Ahmed SA, Rawson KL, et al. Journal article CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum (2019) Konrad E, Nardini N, Caliebe A, Nagel I, Young D, Horvath G, Santoro SL, et al. Journal article CTCF variants in 31 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum (2019) Konrad E, Nardini N, Blyth M, Prescott K, Bouman AM, Brilstra EH, Caliebe A, et al. Conference contribution