Search Results - "Rigbye KA"

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  1. 1

    Stuttering associated with a pathogenic variant in the chaperone protein cyclophilin 40.

    Authors: Morgan AT Scerri TS Vogel AP et al.

    Source: Brain : a journal of neurology [Brain] 2023 Dec 01; Vol. 146 (12), pp. 5086-5097.

    Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't

    Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

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  2. 2

    Severe childhood speech disorder: Gene discovery highlights transcriptional dysregulation.

    Authors: Hildebrand MS Jackson VE Scerri TS et al.

    Source: Neurology [Neurology] 2020 May 19; Vol. 94 (20), pp. e2148-e2167. Date of Electronic Publication: 2020 Apr 28.

    Publication Type: Journal Article; Research Support, Non-U.S. Gov't

    Journal Info: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 0401060 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1526-632X (Electronic) Linking ISSN: 00283878 NLM ISO Abbreviation: Neurology Subsets: MEDLINE

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  3. 3

    Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia.

    Authors: Khan K Zech M Morgan AT et al.

    Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2019 Nov; Vol. 21 (11), pp. 2532-2542. Date of Electronic Publication: 2019 Apr 30.

    Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

    Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

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  4. 4

    Is FGF13 a major contributor to genetic epilepsy with febrile seizures plus?

    Authors: Rigbye KA van Hasselt PM Burgess R et al.

    Source: Epilepsy research [Epilepsy Res] 2016 Dec; Vol. 128, pp. 48-51. Date of Electronic Publication: 2016 Oct 25.

    Publication Type: Journal Article

    Journal Info: Publisher: Elsevier Science Publishers Country of Publication: Netherlands NLM ID: 8703089 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1872-6844 (Electronic) Linking ISSN: 09201211 NLM ISO Abbreviation: Epilepsy Res Subsets: MEDLINE

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