المؤلفون: Yvonne G van der Zwan, Martin A Rijlaarsdam, Fernando J Rossello, Amanda J Notini, Suzan de Boer, D Neil Watkins, Ad J M Gillis, Lambert C J Dorssers, Stefan J White, Leendert H J Looijenga

المصدر: PLoS ONE, Vol 9, Iss 6, p e98330 (2014)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC4041891?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/c3cb48836c40449bb0e2a18e0430856d

المؤلفون: Stuart Cantsilieris, Stefan J White, Andrea J Richardson, Robyn H Guymer, Paul N Baird

المصدر: PLoS ONE, Vol 7, Iss 4, p e35255 (2012)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/22558131/pdf/?tool=EBI; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/7fefbd834efd40919740412dd0db20fd

المؤلفون: Rute B Marques, Mohamed M Thabet, Stefan J White, Jeanine J Houwing-Duistermaat, Aleida M Bakker, Gert-Jan Hendriks, Alexandra Zhernakova, Tom W Huizinga, Annette H van der Helm-van Mil, Rene E Toes

المصدر: PLoS ONE, Vol 5, Iss 10, p e13173 (2010)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/20957197/?tool=EBI; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/e0f2ba3fe0e547aa9bdf99cba5d3a9b5

المؤلفون: Joanna E Cobb, Stefan J White, Stephen B Harrap, Justine A Ellis

المصدر: PLoS ONE, Vol 4, Iss 4, p e5081 (2009)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC2659771?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/f5714e57159a4b5caab7a2f53c05b0e2

المؤلفون: Cornelis L. Harteveld, Stefan J. White, Emile de Meijer, Henk P. J. Buermans, Quint P Hottentot

المصدر: International Journal of Laboratory Hematology, 43(6), 1628-1634. WILEY

مصطلحات موضوعية: thalassemia, TLA, Inverse polymerase chain reaction, Biochemistry (medical), Clinical Biochemistry, Breakpoint, Locus (genetics), Hematology, General Medicine, Computational biology, Biology, DNA sequencing, molecular diagnostics, genomic DNA, hemoglobinopathy, Multiplex ligation-dependent probe amplification, targeted sequencing, Primer (molecular biology), clinical genetics, Southern blot

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b8435c45162f811a3e902d97c1cb1c7f
https://doi.org/10.1111/ijlh.13651

المؤلفون: Quint P, Hottentot, Emile, de Meijer, Henk P J, Buermans, Stefan J, White, Cornelis L, Harteveld

المصدر: International journal of laboratory hematology. 43(6)

مصطلحات موضوعية: Chromosome Breakpoints, Genomic Library, alpha-Globins, alpha-Thalassemia, High-Throughput Nucleotide Sequencing, Humans, Genetic Testing, Nucleic Acid Amplification Techniques, Polymerase Chain Reaction, Alleles, Sequence Deletion

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::3415ca03aa14e372748f052c56b9f7a4
https://pubmed.ncbi.nlm.nih.gov/34251753

المؤلفون: Remko Hersmus, Hans Stoop, Stefan J. White, Stenvert L. S. Drop, J. Wolter Oosterhuis, Luca Incrocci, Katja P. Wolffenbuttel, Leendert H. J. Looijenga

المصدر: International Journal of Endocrinology, Vol 2012 (2012)

مصطلحات موضوعية: Diseases of the endocrine glands. Clinical endocrinology, RC648-665

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1687-8337; https://doaj.org/toc/1687-8345

URL الوصول: https://doaj.org/article/55562915f0b84703a9147e7f78338f43

المؤلفون: Patrick S. Western, David L. Adelson, Stefan J. White, David K. Gardner, Samuel C. Forster, Zhipeng Qu, Lexie Prokopuk, Moira K O'Bryan, Jessica M Stringer

المصدر: BMC Biology, Vol 16, Iss 1, Pp 1-20 (2018)
BMC Biology, 16

مصطلحات موضوعية: Male, 0301 basic medicine, Germline, Physiology, Offspring, H3K27me3, Plant Science, macromolecular substances, Biology, medicine.disease_cause, General Biochemistry, Genetics and Molecular Biology, Epigenesis, Genetic, Mice, 03 medical and health sciences, Structural Biology, Heredity, Transcriptional regulation, medicine, Animals, Epigenetics, Paternal Inheritance, lcsh:QH301-705.5, Ecology, Evolution, Behavior and Systematics, Genetics, Polycomb Repressive Complex 2, Inheritance (genetic algorithm), Cell Biology, PRC2, Epigenetic reprogramming, Germ Cells, 030104 developmental biology, Fertility, lcsh:Biology (General), General Agricultural and Biological Sciences, Reprogramming, Paternal inheritance, Developmental Biology, Biotechnology

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a93c7aadcff39e99fac5e951066c6157
http://link.springer.com/article/10.1186/s12915-018-0569-5

المؤلفون: Ina Rudloff, Stefan J. White, Stuart Cantsilieris, Wendy Dankers, Melissa Northcott, Elena J. Tucker, James Harris, Qiang Cheng, Eric F Morand, Brendan E. Russ, Marcel F. Nold, Andrew E. J. Toh, Huapeng Fan, Sarah A. Jones

المساهمون: Clinical Immunology and Rheumatology

المصدر: Scientific Reports
Scientific reports, 9(1). Nature Publishing Group
Scientific Reports, Vol 9, Iss 1, Pp 1-9 (2019)

مصطلحات موضوعية: Male, 0301 basic medicine, Linkage disequilibrium, lcsh:Medicine, Locus (genetics), Single-nucleotide polymorphism, Genome-wide association study, Regulatory Sequences, Nucleic Acid, Biology, Polymorphism, Single Nucleotide, Genome, Linkage Disequilibrium, Article, 03 medical and health sciences, Systemic lupus erythematosus, 0302 clinical medicine, Genetics research, medicine, Humans, Lupus Erythematosus, Systemic, SNP, Genetic Predisposition to Disease, Polymorphism, lcsh:Science, skin and connective tissue diseases, 030203 arthritis & rheumatology, Genetics, Multidisciplinary, Lupus erythematosus, Lupus Erythematosus, Nucleic Acid, business.industry, lcsh:R, Single Nucleotide, Lupus Erythematosus, Systemic/genetics, medicine.disease, Systemic/genetics, 030104 developmental biology, lcsh:Q, Female, Personalized medicine, business, Regulatory Sequences, Genome-Wide Association Study

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::26f9e73fc44c0139a4e1471c955cbc1c
https://doi.org/10.1038/s41598-019-51864-9

المؤلفون: Seyed Yahya Anvar, Henk P. J. Buermans, Henk-Jan Guchelaar, Rolf H. A. M. Vossen, Johan T. den Dunnen, William G. Allard, Tahar van der Straaten, Stefan J. White, Jesse J. Swen

المصدر: Human Mutation
Human Mutation, 38(3), 310-316

مصطلحات موضوعية: 0301 basic medicine, DNA Copy Number Variations, Genotype, Sequence analysis, Pseudogene, Biology, digestive system, Translocation, Genetic, PacBio long‐read sequencing, 03 medical and health sciences, copy‐number variation, Gene Duplication, Genetics, TaqMan, PacBio long-read sequencing, Humans, Copy-number variation, variant phasing, skin and connective tissue diseases, Genotyping, Genetics (clinical), Research Articles, AmpliChip CYP450 Test, pharmacogenomics, CYP2D6, Haplotype, Genetic Variation, Sequence Analysis, DNA, Amplicon, 030104 developmental biology, copy-number variation, Cytochrome P-450 CYP2D6, Gene Deletion, Research Article

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b8ee17656a50a1ab9345b6ace8754fe1
http://europepmc.org/articles/PMC5324676