Search Results - "Peters EDJ"

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  1. 1

    Biallelic <italic>TMEM72</italic> Variants in Patients with a Nephronophthisis-Like Phenotype.

    Authors: Claus LR Snoek R Faber S et al.

    Source: Nephron [Nephron] 2026; Vol. 150 (4), pp. 210-227. Date of Electronic Publication: 2025 Nov 27.

    Publication Type: Journal Article

    Journal Info: Publisher: Karger Country of Publication: Switzerland NLM ID: 0331777 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2235-3186 (Electronic) Linking ISSN: 16608151 NLM ISO Abbreviation: Nephron Subsets: MEDLINE

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  2. 2

    KDM2B variants in the CxxC domain impair its DNA-binding ability and cause a distinct neurodevelopmental syndrome.

    Authors: van Oirsouw ASE Hadders MA Koetsier M et al.

    Source: Human molecular genetics [Hum Mol Genet] 2025 Aug 16; Vol. 34 (16), pp. 1353-1367.

    Publication Type: Journal Article

    Journal Info: Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE

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  3. 3

    Genetics-first approach improves diagnostics of ESKD patients <50 years old.

    Authors: Snoek R van Jaarsveld RH Nguyen TQ et al.

    Source: Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association [Nephrol Dial Transplant] 2022 Jan 25; Vol. 37 (2), pp. 349-357.

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

    Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 8706402 Publication Model: Print Cited Medium: Internet ISSN: 1460-2385 (Electronic) Linking ISSN: 09310509 NLM ISO Abbreviation: Nephrol Dial Transplant Subsets: MEDLINE

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  4. 4

    FOXL2 and TERT promoter mutation detection in circulating tumor DNA of adult granulosa cell tumors as biomarker for disease monitoring.

    Authors: Groeneweg JW Roze JF Peters EDJ et al.

    Source: Gynecologic oncology [Gynecol Oncol] 2021 Aug; Vol. 162 (2), pp. 413-420. Date of Electronic Publication: 2021 Jun 01.

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

    Journal Info: Publisher: Academic Press Country of Publication: United States NLM ID: 0365304 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1095-6859 (Electronic) Linking ISSN: 00908258 NLM ISO Abbreviation: Gynecol Oncol Subsets: MEDLINE

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  5. 5

    NPHP1 (Nephrocystin-1) Gene Deletions Cause Adult-Onset ESRD.

    Authors: Snoek R van Setten J Keating BJ et al.

    Source: Journal of the American Society of Nephrology : JASN [J Am Soc Nephrol] 2018 Jun; Vol. 29 (6), pp. 1772-1779. Date of Electronic Publication: 2018 Apr 13.

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

    Journal Info: Publisher: Wolters Kluwer Health, on behalf of the American Society of Nephrology Country of Publication: United States NLM ID: 9013836 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1533-3450 (Electronic) Linking ISSN: 10466673 NLM ISO Abbreviation: J Am Soc Nephrol Subsets: MEDLINE

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