Search Results - "Doherty ES"

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  1. 1

    Profiling PI3K-AKT-MTOR variants in focal brain malformations reveals new insights for diagnostic care.

    Authors: Pirozzi F Berkseth M Shear R et al.

    Source: Brain : a journal of neurology [Brain] 2022 Apr 29; Vol. 145 (3), pp. 925-938.

    Publication Type: Journal Article; Research Support, N.I.H., Extramural; 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

    Diffuse Gastric Ganglioneuromatosis: Novel Presentation of PTEN Hamartoma Syndrome-Case Report and Review of Gastric Ganglioneuromatous Proliferations and a Novel PTEN Gene Mutation.

    Authors: Williams AJ Doherty ES Hart MH et al.

    Source: Case reports in medicine [Case Rep Med] 2018 Mar 25; Vol. 2018, pp. 4319818. Date of Electronic Publication: 2018 Mar 25 (Print Publication: 2018).

    Publication Type: Case Reports; Journal Article

    Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 101512910 Publication Model: eCollection Cited Medium: Print ISSN: 1687-9627 (Print) NLM ISO Abbreviation: Case Rep Med Subsets: PubMed not MEDLINE

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  3. 3

    Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy.

    Authors: Lemke JR Geider K Helbig KL et al.

    Source: Neurology [Neurology] 2016 Jun 07; Vol. 86 (23), pp. 2171-8. Date of Electronic Publication: 2016 May 06.

    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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  4. 4

    Palatal and oral manifestations of Muenke syndrome (FGFR3-related craniosynostosis).

    Authors: Agochukwu NB Solomon BD Doherty ES et al.

    Source: The Journal of craniofacial surgery [J Craniofac Surg] 2012 May; Vol. 23 (3), pp. 664-8.

    Publication Type: Journal Article; Research Support, N.I.H., Intramural; Review

    Journal Info: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 9010410 Publication Model: Print Cited Medium: Internet ISSN: 1536-3732 (Electronic) Linking ISSN: 10492275 NLM ISO Abbreviation: J Craniofac Surg

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  5. 5

    Muenke syndrome (FGFR3-related craniosynostosis): expansion of the phenotype and review of the literature.

    Authors: Doherty ES Lacbawan F Hadley DW et al.

    Source: American journal of medical genetics. Part A [Am J Med Genet A] 2007 Dec 15; Vol. 143A (24), pp. 3204-15.

    Publication Type: Journal Article; Research Support, N.I.H., Intramural

    Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

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  6. 6

    Novel mitochondrial DNA mutations associated with myopathy, cardiomyopathy, renal failure, and deafness.

    Authors: Feigenbaum A Bai RK Doherty ES et al.

    Source: American journal of medical genetics. Part A [Am J Med Genet A] 2006 Oct 15; Vol. 140 (20), pp. 2216-22.

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

    Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print Cited Medium: Print ISSN: 1552-4825 (Print) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

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  7. 7

    Identifying the needs of coronary patient wife-caregivers: implications for social workers.

    Authors: Doherty ES Power PW

    Source: Health & social work [Health Soc Work] 1990 Nov; Vol. 15 (4), pp. 291-9.

    Publication Type: Journal Article

    Journal Info: Publisher: Oxford University Press Country of Publication: United States NLM ID: 7611528 Publication Model: Print Cited Medium: Print ISSN: 0360-7283 (Print) Linking ISSN: 03607283 NLM ISO Abbreviation: Health Soc Work Subsets: MEDLINE

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