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von de Boer, Eddy N. ; Vroom, Vincent ; Scheper, Arjen J. ; et al.
Scientific Reports. 14(1)
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von Veldman, Abigail ; Sikkema-Raddatz, Birgit ; Derks, Terry G J ; et al.
Veldman, A, Sikkema-Raddatz, B, Derks, T G J, van Karnebeek, C D M, Kiewiet, M B G, Mulder, M F, Nelen, M R, Rubio-Gozalbo, M E, Sinke, R J, de Sain-van der Velden, M G, Visser, G, de Vries, M C, Westra, D, Williams, M, Wevers, R A, Heiner-Fokkema, M R & van Spronsen, F J 2025, 'Newborn Screening by DNA-First : Systematic Evaluation of the Eligibility of Inherited Metabolic Disorders Based on Treatability', International Journal of Neonatal Screening, vol. 11, no. 1, 1. https://doi.org/10.3390/ijns11010001
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von de Boer, Eddy N ; Scheper, Arjen J ; Hendriksen, Dennis ; et al.
de Boer, E N, Scheper, A J, Hendriksen, D, Charbon, B, van der Vries, G, ten Berge, A M, Grootscholten, P M, Lemmink, H H, Jongbloed, J D H, Bosscher, L, Knoers, N V A M, Swertz, M A, Sikkema-Raddatz, B, Dijkstra, D J, Johansson, L F & van Diemen, C C 2025, 'Nanopore Long-Read Sequencing as a First-Tier Diagnostic Test to Detect Repeat Expansions in Neurological Disorders', International Journal of Molecular Sciences, vol. 26, no. 7, 2850. https://doi.org/10.3390/ijms26072850
Schlagworte: Humans; Nanopore Sequencing/methods; Microsatellite Repeats/genetics; Nervous System Diseases/genetics; Fragile X Syndrome/genetics; Fragile X Mental Retardation Protein/genetics; DNA Repeat Expansion; Spinocerebellar Ataxias/genetics; Male; DNA Methylation; High-Throughput Nucleotide Sequencing; Female
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von Kiewiet, Gea ; Westra, Dineke ; de Boer, Eddy N ; et al.
Kiewiet, G, Westra, D, de Boer, E N, van Berkel, E, Hofste, T G J, van Zweeden, M, Derks, R C, Leijsten, N F A, Ruiterkamp-Versteeg, M H A, Charbon, B, Johansson, L, Bos-Kruizinga, J, Veenstra, I J, de Sain-van der Velden, M G M, Voorhoeve, E, Heiner-Fokkema, M R, van Spronsen, F, Sikkema-Raddatz, B & Nelen, M 2024, 'Future of Dutch NGS-Based Newborn Screening : Exploring the Technical Possibilities and Assessment of a Variant Classification Strategy', International journal of neonatal screening, vol. 10, no. 1. https://doi.org/10.3390/ijns10010020
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von Alimohamed, Mohamed Z. ; Johansson, Lennart F. ; Posafalvi, Anna ; et al.
In International Journal of Cardiology 1 June 2021 332:99-104
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von Sabrina Commandeur-Jan ; Eva van den Berg- de Ruiter ; Vincent Vroom ; et al.
HemaSphere, Vol 7, p e90907a4 (2023)
Schlagworte: Diseases of the blood and blood-forming organs; RC633-647.5
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von Shuang Li ; K. Joeri van der Velde ; Dick de Ridder ; et al.
Genome Medicine, Vol 12, Iss 1, Pp 1-11 (2020)
Schlagworte: Variant pathogenicity prediction; Machine learning; Exome sequencing; Molecular consequence; Allele frequency; Clinical genetics; Medicine; Genetics; QH426-470
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von van der Meij, Karuna R.M. ; Sistermans, Erik A. ; Macville, Merryn V.E. ; et al.
In The American Journal of Human Genetics 5 December 2019 105(6):1091-1101
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von Ghorbani, Fatemeh ; de Boer, Eddy N ; Benjamins-Stok, Marloes ; et al.
Ghorbani, F, de Boer, E N, Benjamins-Stok, M, Verschuuren-Bemelmans, C C, Knapper, J, de Boer-Bergsma, J, de Vries, J J, Sikkema-Raddatz, B, Verbeek, D S, Westers, H & van Diemen, C C 2023, 'Copy Number Variant Analysis of Spinocerebellar Ataxia Genes in a Cohort of Dutch Patients With Cerebellar Ataxia', Neurology: Genetics, vol. 9, no. 1, e200050. https://doi.org/10.1212/NXG.0000000000200050
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von Mohamed Z. Alimohamed ; Helga Westers ; Yvonne J. Vos ; et al.
Frontiers in Genetics, Vol 13 (2022)
Schlagworte: cardiomyopathy; NGS gene panel; variant classification; constraint metrics; cardiogenetics; Genetics; QH426-470
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von Fatemeh Ghorbani ; Mohamed Z. Alimohamed ; Juliana F. Vilacha ; et al.
Frontiers in Genetics, Vol 13 (2022)
Schlagworte: genetic diagnostics; variant of unknown significance; spinocerebellar ataxia; gene panel; functional studies; protein modeling; Genetics; QH426-470
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von Veldman, Abigail ; Kiewiet, Mensiena B. G. ; Heiner-Fokkema, Margaretha Rebecca ; et al.
Veldman, A, Kiewiet, M B G, Heiner-Fokkema, M R, Nelen, M R, Sinke, R J, Sikkema-Raddatz, B, Voorhoeve, E, Westra, D, Dolle, M E T, Schielen, P C J & van Spronsen, F J 2022, 'Towards Next-Generation Sequencing (NGS)-Based Newborn Screening : A Technical Study to Prepare for the Challenges Ahead', International journal of neonatal screening, vol. 8, no. 1, 17. https://doi.org/10.3390/ijns8010017
Schlagworte: next-generation sequencing; first-tier; heel prick; dried blood spot; inherited metabolic disorders; inborn errors of metabolism; newborn screening; IDENTIFICATION; DATABASE; CONSENT; CUSTOM; EXOME
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von de Boer, Eddy N; id_orcid 0000-0002-7138-8642 ; Scheper, Arjen J ; Hendriksen, Dennis ; et al.
de Boer, E N, Scheper, A J, Hendriksen, D, Charbon, B, van der Vries, G, ten Berge, A M, Grootscholten, P M, Lemmink, H H, Jongbloed, J D H, Bosscher, L, Knoers, N V A M, Swertz, M A, Sikkema-Raddatz, B, Dijkstra, D J, Johansson, L F & van Diemen, C C 2025, 'Nanopore Long-Read Sequencing as a First-Tier Diagnostic Test to Detect Repeat Expansions in Neurological Disorders', International Journal of Molecular Sciences, vol. 26, no. 7, 2850.
Schlagworte: Humans; Nanopore Sequencing/methods; Microsatellite Repeats/genetics; Nervous System Diseases/genetics; Fragile X Syndrome/genetics; Fragile X Mental Retardation Protein/genetics; DNA Repeat Expansion; Spinocerebellar Ataxias/genetics; Male; DNA Methylation; High-Throughput Nucleotide Sequencing; Female; article; info:eu-repo/semantics/publishedVersion
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von Veldman, Abigail; id_orcid 0000-0001-7754-9630 ; Sikkema-Raddatz, Birgit ; Derks, Terry G. J.; id_orcid 0000-0002-7259-1095 ; et al.
Veldman, A, Sikkema-Raddatz, B, Derks, T G J, van Karnebeek, C D M, Kiewiet, M B G, Mulder, M F, Nelen, M R, Rubio-Gozalbo, M E, Sinke, R J, de Sain-van der Velden, M G, Visser, G, de Vries, M C, Westra, D, Williams, M, Wevers, R A, Heiner Fokkema, M R & van Spronsen, F J 2025, 'Newborn Screening by DNA-First : Systematic Evaluation of the Eligibility of Inherited Metabolic Disorders Based on Treatability', International journal of neonatal screening, vol. 11, no. 1, 1.
Schlagworte: article; info:eu-repo/semantics/publishedVersion
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von Patrick Deelen ; Sipko van Dam ; Johanna C. Herkert ; et al.
Nature Communications, Vol 10, Iss 1, Pp 1-13 (2019)
Schlagworte: Science
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von Lennart F. Johansson ; Hendrik A. de Weerd ; Eddy N. de Boer ; et al.
BMC Bioinformatics, Vol 19, Iss 1, Pp 1-5 (2018)
Schlagworte: NIPT; Trisomy prediction; Next-generation sequencing; Computer applications to medicine. Medical informatics; R858-859.7; Biology (General); QH301-705.5
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von Miriam E. Imafidon ; Birgit Sikkema-Raddatz ; Kristin M. Abbott ; et al.
Frontiers in Pediatrics, Vol 9 (2021)
Schlagworte: neonatal intensive care (unit); next generation sequencing; genetic diagnostics; copy number variation; genetic disease; Pediatrics; RJ1-570
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von de Groot-van der Mooren, Maurike ; de Graaf, Gert ; Weijerman, Michel E. ; et al.
de Groot-van der Mooren, M, de Graaf, G, Weijerman, M E, Hoffer, M J V, Knijnenburg, J, van der Kevie-Kersemaekers, A-M M F, Kooper, A J A, Voorhoeve, E, Sikkema-Raddatz, B, van Zutven, L J C M, Srebniak, M I, Huijsdens-van Amsterdam, K, Engelen, J J M, Smeets, D, van Kaam, A H & Cornel, M C 2021, 'Does non-invasive prenatal testing affect the livebirth prevalence of Down syndrome in the Netherlands? A population-based register study', Prenatal Diagnosis, vol. 41, no. 10, pp. 1351-1359. https://doi.org/10.1002/pd.6003, https://doi.org/10.1002/pd.6003
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von K. Joeri van derVelde ; Sander van denHoek ; Freerk vanDijk ; et al.
Advanced Genetics, Vol 1, Iss 1, Pp n/a-n/a (2020)
Schlagworte: benchmark; command‐line; gene prioritization; genome diagnostics; next‐generation sequencing; patient symptoms; Genetics; QH426-470
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von de Lange, Kim ; de Boer, Eddy N ; Bosga, Anneke ; et al.
de Lange, K, de Boer, E N, Bosga, A, Alimohamed, M Z, Johansson, L F, Mulder, A B, Vellenga, E, van Diemen, C C, Deelen, P, van den Berg, E & Sikkema-Raddatz, B 2020, 'Targeted RNA-Sequencing Enables Detection of Relevant Translocations and Single Nucleotide Variants and Provides a Method for Classification of Hematological Malignancies-RANKING', Clinical Chemistry, vol. 66, no. 12, pp. 1521-1530. https://doi.org/10.1093/clinchem/hvaa221
Schlagworte: GENE FUSIONS; EXPRESSION; MUTATIONS; DATABASE; CANCER
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von de Boer, Eddy N ; Johansson, Lennart F ; de Lange, Kim ; et al.
de Boer, E N, Johansson, L F, de Lange, K, Bosga-Brouwer, A G, van den Berg, E, Sikkema-Raddatz, B & van Diemen, C C 2020, 'Detection of Fusion Genes to Determine Minimal Residual Disease in Leukemia Using Next-Generation Sequencing', Clinical Chemistry, vol. 66, no. 8, pp. 1084-1092. https://doi.org/10.1093/clinchem/hvaa119
Schlagworte: ACUTE MYELOID-LEUKEMIA; DIAGNOSTICS
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von Bever, Yolande van ; Brüggenwirth, Hennie T ; Wolffenbuttel, Katja P ; et al.
JOURNAL OF MEDICAL GENETICS ; ISSN: 0022-2593 ; ISSN: 1468-6244
Schlagworte: Medicine and Health Sciences; Genetics(clinical); Genetics; DSD; NGS; guideline; diagnostic; prenatal; DSD POSITION PAPER; AMBIGUOUS GENITALIA; GENETIC DIAGNOSIS; DISORDERS; MANAGEMENT; CARE; UPDATE; ADOLESCENTS; TRANSITION; RISK
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von Corsten‐Janssen, Nicole ; Bouman, Katelijne ; Diphoorn, Janouk C. D. ; et al.
Prenatal Diagnosis ; volume 40, issue 10, page 1300-1309 ; ISSN 0197-3851 1097-0223
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