Search Results - "Caefer DM"

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  1. 1

    Exome sequencing in 16 patients with pituitary stalk interruption syndrome: A monocentric study.

    Authors: Brauner, Raja Bignon-Topalovic, Joelle Bashamboo, Anu et al.

    Source: PLoS ONE. 12/14/2023, Vol. 18 Issue 12, p1-11. 11p.

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  2. 2

    The Okur-Chung Neurodevelopmental Syndrome Mutation CK2K198R Leads to a Rewiring of Kinase Specificity.

    Authors: Caefer DM Phan NQ Liddle JC et al.

    Source: Frontiers in molecular biosciences [Front Mol Biosci] 2022 Apr 19; Vol. 9, pp. 850661. Date of Electronic Publication: 2022 Apr 19 (Print Publication: 2022).

    Publication Type: Journal Article

    Journal Info: Publisher: Frontiers Media S.A Country of Publication: Switzerland NLM ID: 101653173 Publication Model: eCollection Cited Medium: Print ISSN: 2296-889X (Print) Linking ISSN: 2296889X NLM ISO Abbreviation: Front Mol Biosci Subsets: PubMed not MEDLINE

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  3. 3

    Missense mutation in the activation segment of the kinase CK2 models Okur-Chung neurodevelopmental disorder and alters the hippocampal glutamatergic synapse.

    Authors: Cruz-Gamero JM Ballardin D Lecis B et al.

    Source: Molecular psychiatry [Mol Psychiatry] 2025 Apr; Vol. 30 (4), pp. 1497-1509. Date of Electronic Publication: 2024 Oct 04.

    Publication Type: Journal Article

    Journal Info: Publisher: Nature Publishing Group Specialist Journals Country of Publication: England NLM ID: 9607835 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5578 (Electronic) Linking ISSN: 13594184 NLM ISO Abbreviation: Mol Psychiatry Subsets: MEDLINE

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  4. 4

    Patient organization perspective: a research roadmap for Okur-Chung Neurodevelopmental Syndrome.

    Authors: Rushing GV Sills J

    Source: Therapeutic advances in rare disease [Ther Adv Rare Dis] 2024 Jul 25; Vol. 5, pp. 26330040241249763. Date of Electronic Publication: 2024 Jul 25 (Print Publication: 2024).

    Publication Type: Journal Article; Review

    Journal Info: Publisher: Sage Country of Publication: England NLM ID: 9918557474706676 Publication Model: eCollection Cited Medium: Internet ISSN: 2633-0040 (Electronic) Linking ISSN: 26330040 NLM ISO Abbreviation: Ther Adv Rare Dis Subsets: PubMed not MEDLINE

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