Search Results - "Westers H"

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The Bacillus secretion stress response is an indicator for α-amylase production levels.

Authors: Westers, H. Darmon, E. Zanen, G. et al.

Source: Letters in Applied Microbiology. Jul2004, Vol. 39 Issue 1, p65-73. 9p.

Waste solids control in hatchery raceways

Authors: Boersen, G. Westers, H.

Source: Progressive Fish-Culturist. Apr1986, Vol. 48 Issue 2, p151. 0p.

450: The consequence of SETD2 mutation in clear cell renal cell carcinoma progenitor cells.

Authors: Li, J. Osinga, J. Ferronika, P. et al.

Source: European Journal of Cancer. Jul2014 Supplement 5, Vol. 50, pS109-S109. 1p.

A multidisciplinary RNA-guided approach to complement genomic analysis of unsolved patients with an inborn error of immunity.

Authors: Maassen WTK Pape LCET Niemeijer T et al.

Source: Frontiers in immunology [Front Immunol] 2026 May 28; Vol. 17, pp. 1829883. Date of Electronic Publication: 2026 May 28 (Print Publication: 2026).

Publication Type: Journal Article

Journal Info: Publisher: Frontiers Research Foundation] Country of Publication: Switzerland NLM ID: 101560960 Publication Model: eCollection Cited Medium: Internet ISSN: 1664-3224 (Electronic) Linking ISSN: 16643224 NLM ISO Abbreviation: Front Immunol Subsets: MEDLINE

High Prevalence of the Intronic GAA-FGF14 Repeat Expansion in Dutch Patients With Late-Onset Ataxia.

Authors: Ignjatijevic A Boorsma F Wierenga E et al.

Source: Neurology. Genetics [Neurol Genet] 2025 Feb 25; Vol. 11 (2), pp. e200244. Date of Electronic Publication: 2025 Feb 25 (Print Publication: 2025).

Publication Type: Journal Article

Journal Info: Publisher: Published for the American Academy of Neurology by Wolters Kluwer Country of Publication: United States NLM ID: 101671068 Publication Model: eCollection Cited Medium: Print ISSN: 2376-7839 (Print) Linking ISSN: 23767839 NLM ISO Abbreviation: Neurol Genet Subsets: PubMed not MEDLINE

Prevalence of intronic repeat expansions in RFC1 in Dutch patients with CANVAS and adult-onset ataxia.

Authors: Ghorbani F de Boer-Bergsma J Verschuuren-Bemelmans CC et al.

Source: Journal of neurology [J Neurol] 2022 Nov; Vol. 269 (11), pp. 6086-6093. Date of Electronic Publication: 2022 Jul 21.

Publication Type: Journal Article

Journal Info: Publisher: Springer-Verlag Country of Publication: Germany NLM ID: 0423161 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1459 (Electronic) Linking ISSN: 03405354 NLM ISO Abbreviation: J Neurol Subsets: MEDLINE

Functional investigation of two simultaneous or separately segregating DSP variants within a single family supports the theory of a dose-dependent disease severity.

Authors: Vermeer MCSC Andrei D Kramer D et al.

Source: Experimental dermatology [Exp Dermatol] 2022 Jun; Vol. 31 (6), pp. 970-979. Date of Electronic Publication: 2022 Apr 01.

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

Journal Info: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 9301549 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1600-0625 (Electronic) Linking ISSN: 09066705 NLM ISO Abbreviation: Exp Dermatol Subsets: MEDLINE

Feasibility of Follow-Up Studies and Reclassification in Spinocerebellar Ataxia Gene Variants of Unknown Significance.

Authors: Ghorbani F Alimohamed MZ Vilacha JF et al.

Source: Frontiers in genetics [Front Genet] 2022 Mar 25; Vol. 13, pp. 782685. Date of Electronic Publication: 2022 Mar 25 (Print Publication: 2022).

Publication Type: Journal Article

Journal Info: Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101560621 Publication Model: eCollection Cited Medium: Print ISSN: 1664-8021 (Print) Linking ISSN: 16648021 NLM ISO Abbreviation: Front Genet Subsets: PubMed not MEDLINE

Validation of New Gene Variant Classification Methods: a Field-Test in Diagnostic Cardiogenetics.

Authors: Alimohamed MZ Westers H Vos YJ et al.

Source: Frontiers in genetics [Front Genet] 2022 Mar 01; Vol. 13, pp. 824510. Date of Electronic Publication: 2022 Mar 01 (Print Publication: 2022).

Publication Type: Journal Article

Journal Info: Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101560621 Publication Model: eCollection Cited Medium: Print ISSN: 1664-8021 (Print) Linking ISSN: 16648021 NLM ISO Abbreviation: Front Genet Subsets: PubMed not MEDLINE

Identification and Copy Number Variant Analysis of Enhancer Regions of Genes Causing Spinocerebellar Ataxia.

Authors: Ghorbani F de Boer EN Fokkens MR et al.

Source: International journal of molecular sciences [Int J Mol Sci] 2024 Oct 18; Vol. 25 (20). Date of Electronic Publication: 2024 Oct 18.

Publication Type: Journal Article

Journal Info: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: MEDLINE

A prospective study on rapid exome sequencing as a diagnostic test for multiple congenital anomalies on fetal ultrasound.

Authors: Corsten-Janssen N Bouman K Diphoorn JCD et al.

Source: Prenatal diagnosis [Prenat Diagn] 2020 Sep; Vol. 40 (10), pp. 1300-1309. Date of Electronic Publication: 2020 Jul 20.

Publication Type: Evaluation Study; Journal Article

Journal Info: Publisher: Wiley Country of Publication: England NLM ID: 8106540 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-0223 (Electronic) Linking ISSN: 01973851 NLM ISO Abbreviation: Prenat Diagn Subsets: MEDLINE

Copy Number Variant Analysis of Spinocerebellar Ataxia Genes in a Cohort of Dutch Patients With Cerebellar Ataxia.

Authors: Ghorbani F de Boer EN Benjamins-Stok M et al.

Source: Neurology. Genetics [Neurol Genet] 2023 Feb 02; Vol. 9 (1), pp. e200050. Date of Electronic Publication: 2023 Feb 02 (Print Publication: 2023).

Publication Type: Journal Article

Journal Info: Publisher: Published for the American Academy of Neurology by Wolters Kluwer Country of Publication: United States NLM ID: 101671068 Publication Model: eCollection Cited Medium: Print ISSN: 2376-7839 (Print) Linking ISSN: 23767839 NLM ISO Abbreviation: Neurol Genet Subsets: PubMed not MEDLINE

SEPT-GD: A decision tree to prioritise potential RNA splice variants in cardiomyopathy genes for functional splicing assays in diagnostics.

Authors: Alimohamed MZ Boven LG van Dijk KK et al.

Source: Gene [Gene] 2023 Jan 30; Vol. 851, pp. 146984. Date of Electronic Publication: 2022 Oct 18.

Publication Type: Journal Article

Journal Info: Publisher: Elsevier/North-Holland Country of Publication: Netherlands NLM ID: 7706761 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-0038 (Electronic) Linking ISSN: 03781119 NLM ISO Abbreviation: Gene Subsets: MEDLINE

Evaluation of a seven gene mutational profile as a prognostic factor in a population-based study of clear cell renal cell carcinoma.

Authors: van de Pol JAA Ferronika P Westers H et al.

Source: Scientific reports [Sci Rep] 2022 Apr 20; Vol. 12 (1), pp. 6478. Date of Electronic Publication: 2022 Apr 20.

Publication Type: Journal Article

Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN: 2045-2322 (Electronic) Linking ISSN: 20452322 NLM ISO Abbreviation: Sci Rep Subsets: MEDLINE

CoNVaDING: Single Exon Variation Detection in Targeted NGS Data.

Authors: Johansson LF van Dijk F de Boer EN et al.

Source: Human mutation [Hum Mutat] 2016 May; Vol. 37 (5), pp. 457-64. Date of Electronic Publication: 2016 Feb 24.

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

Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

Correspondence: SEMA4A variation and risk of colorectal cancer.

Authors: Kinnersley B Chubb D Dobbins SE et al.

Source: Nature communications [Nat Commun] 2016 Mar 10; Vol. 7, pp. 10611. Date of Electronic Publication: 2016 Mar 10.

Publication Type: Letter; Research Support, Non-U.S. Gov't; Comment

Journal Info: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

Diagnostic yield of targeted next generation sequencing in 2002 Dutch cardiomyopathy patients.

Authors: Alimohamed MZ Johansson LF Posafalvi A et al.

Source: International journal of cardiology [Int J Cardiol] 2021 Jun 01; Vol. 332, pp. 99-104. Date of Electronic Publication: 2021 Mar 01.

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 8200291 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1874-1754 (Electronic) Linking ISSN: 01675273 NLM ISO Abbreviation: Int J Cardiol Subsets: MEDLINE