Search Results - "Sofokleous C"

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  1. 1

    Clonal haematopoiesis of indeterminate potential and mortality in coronary artery disease.

    Authors: von Scheidt M Adkar SS Krefting J et al.

    Source: European heart journal [Eur Heart J] 2026 Jan 24; Vol. 47 (4), pp. 453-469.

    Publication Type: Journal Article

    Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 8006263 Publication Model: Print Cited Medium: Internet ISSN: 1522-9645 (Electronic) Linking ISSN: 0195668X NLM ISO Abbreviation: Eur Heart J Subsets: MEDLINE

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  2. 2

    Pathogenic variants in TMEM184B cause a neurodevelopmental syndrome associated with alteration of metabolic signaling.

    Authors: Chapman KA Ullah F Yahiku ZA et al.

    Source: MedRxiv : the preprint server for health sciences [medRxiv] 2025 Aug 22. Date of Electronic Publication: 2025 Aug 22.

    Publication Type: Journal Article; Preprint

    Journal Info: Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE

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  3. 3

    Mosaic MECP2 variants in males with classical Rett syndrome features, including stereotypical hand movements.

    Authors: Schönewolf-Greulich B Bisgaard AM Dunø M et al.

    Source: Clinical genetics [Clin Genet] 2019 Mar; Vol. 95 (3), pp. 403-408. Date of Electronic Publication: 2018 Dec 07.

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

    Journal Info: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

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  4. 4

    A Female Patient with Xq28 Microduplication Presenting with Myotubular Myopathy, Confirmed with a Custom-Designed X-array.

    Authors: Kosma K Mitrakos A Sofokleous C et al.

    Source: Neuropediatrics [Neuropediatrics] 2019 Feb; Vol. 50 (1), pp. 61-63. Date of Electronic Publication: 2018 Dec 12.

    Publication Type: Case Reports; Journal Article

    Journal Info: Publisher: Hippokrates Verlag Country of Publication: Germany NLM ID: 8101187 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1439-1899 (Electronic) Linking ISSN: 0174304X NLM ISO Abbreviation: Neuropediatrics Subsets: MEDLINE

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  5. 5

    A novel p.Arg970X mutation in the last exon of the CDKL5 gene resulting in late-onset seizure disorder.

    Authors: Psoni S Willems PJ Kanavakis E et al.

    Source: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society [Eur J Paediatr Neurol] 2010 Mar; Vol. 14 (2), pp. 188-91. Date of Electronic Publication: 2009 May 09.

    Publication Type: Case Reports; Journal Article

    Journal Info: Publisher: Saunders Country of Publication: England NLM ID: 9715169 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1532-2130 (Electronic) Linking ISSN: 10903798 NLM ISO Abbreviation: Eur J Paediatr Neurol Subsets: MEDLINE

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  6. 6

    Androgen insensitivity syndrome: clinical features and molecular defects.

    Authors: Galani A Kitsiou-Tzeli S Sofokleous C et al.

    Source: Hormones (Athens, Greece) [Hormones (Athens)] 2008 Jul-Sep; Vol. 7 (3), pp. 217-29.

    Publication Type: Journal Article; Review

    Journal Info: Publisher: Springer International Publishing Country of Publication: Switzerland NLM ID: 101142469 Publication Model: Print Cited Medium: Print ISSN: 1109-3099 (Print) Linking ISSN: 11093099 NLM ISO Abbreviation: Hormones (Athens) Subsets: MEDLINE

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