Found: 33
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MUTYH and the mismatch repair system: partners in crime?
- Published in:
- Human Genetics, 2006, v. 119, n. 1/2, p. 206, doi. 10.1007/s00439-005-0118-5
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- Publication type:
- Article
Susceptibility allele-specific loss of miR-1324- mediated silencing of the INO80B chromatin- assembly complex gene in pre-eclampsia.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 1, p. 118, doi. 10.1093/hmg/ddu423
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- Publication type:
- Article
Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequence.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 9, p. 1151, doi. 10.1038/ejhg.2014.273
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- Publication type:
- Article
Incomplete segregation of MYH11 variants with thoracic aortic aneurysms and dissections and patent ductus arteriosus.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 5, p. 487, doi. 10.1038/ejhg.2012.206
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- Publication type:
- Article
De novo variants in PAK1 lead to intellectual disability with macrocephaly and seizures.
- Published in:
- 2019
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- Publication type:
- journal article
Recessive ITPA mutations cause an early infantile encephalopathy.
- Published in:
- 2015
- By:
- Publication type:
- journal article
Association between low fetal fraction in cell‐free DNA testing and adverse pregnancy outcome: A systematic review.
- Published in:
- Prenatal Diagnosis, 2021, v. 41, n. 10, p. 1287, doi. 10.1002/pd.6028
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- Publication type:
- Article
Fetal akinesia deformation sequence, arthrogryposis multiplex congenita, and bilateral clubfeet: Is motor assessment of additional value for in utero diagnosis? A 10-year cohort study.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Response to letter to the editor PD-17-0390, a comment on "Comparing methods for fetal fraction determination and quality control of NIPT samples".
- Published in:
- 2017
- By:
- Publication type:
- letter
Trial by Dutch laboratories for evaluation of non-invasive prenatal testing. Part I-clinical impact.
- Published in:
- 2016
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- Publication type:
- journal article
Genomic profiling of gastric cancer predicts lymph node status and survival.
- Published in:
- Oncogene, 2003, v. 22, n. 12, p. 1872, doi. 10.1038/sj.onc.1206350
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- Publication type:
- Article
Genotype–phenotype correlations in 19 Dutch cases with APC gene deletions and a literature review.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 10, p. 1034, doi. 10.1038/sj.ejhg.5201871
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- Publication type:
- Article
A Novel CCM2 Variant in a Family With Non-Progressive Cognitive Complaints and Cerebral Microbleeds.
- Published in:
- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2017, v. 174, n. 3, p. 220, doi. 10.1002/ajmg.b.32468
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- Publication type:
- Article
Chromosomal changes in sporadic and familial head and neck paragangliomas
- Published in:
- Otolaryngology-Head & Neck Surgery, 2009, v. 140, n. 5, p. 724, doi. 10.1016/j.otohns.2009.01.004
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- Publication type:
- Article
Quantitative Assessment of Gastric Corpus Atrophy in Subjects Using Omeprazole: A Randomized Follow-Up Study.
- Published in:
- American Journal of Gastroenterology (Springer Nature), 2001, v. 96, n. 10, p. 2882, doi. 10.1111/j.1572-0241.2001.04242.x
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- Publication type:
- Article
Amplicon boundaries at 20q13.2 in gastric adenocarcinoma.
- Published in:
- Journal of Pathology, 2003, v. 200, n. 3, p. 320, doi. 10.1002/path.1359
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- Publication type:
- Article
Barrett's adenocarcinomas resemble adenocarcinomas of the gastric cardia in terms of chromosomal copy number changes, but relate to squamous cell carcinomas of the distal oesophagus with respect to the presence of high-level amplifications.
- Published in:
- Journal of Pathology, 2003, v. 199, n. 2, p. 157, doi. 10.1002/path.1260
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- Publication type:
- Article
Lysine acetyltransferase 8 is involved in cerebral development and syndromic intellectual disability.
- Published in:
- 2020
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- Publication type:
- journal article
Care Pathway for Foetal Joint Contractures, Foetal Akinesia Deformation Sequence, and Arthrogryposis Multiplex Congenita.
- Published in:
- 2021
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- Publication type:
- journal article
Low penetrance of a SDHB mutation in a large Dutch paraganglioma family.
- Published in:
- BMC Medical Genetics, 2010, v. 11, p. 92, doi. 10.1186/1471-2350-11-92
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- Publication type:
- Article
The first Dutch SDHB founder deletion in paraganglioma -- pheochromocytoma patients.
- Published in:
- BMC Medical Genetics, 2009, v. 10, p. 1, doi. 10.1186/1471-2350-10-34
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- Publication type:
- Article
Mutation analysis of SDHB and SDHC: novel germline mutations in sporadic head and neck paraganglioma and familial paraganglioma and/or pheochromocytoma.
- Published in:
- BMC Medical Genetics, 2006, v. 7, p. 1, doi. 10.1186/1471-2350-7-1
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- Publication type:
- Article
Circulating Tumor DNA-Based Disease Monitoring of Patients with Locally Advanced Esophageal Cancer.
- Published in:
- Cancers, 2022, v. 14, n. 18, p. N.PAG, doi. 10.3390/cancers14184417
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- Publication type:
- Article
Results of next‐generation sequencing gene panel diagnostics including copy‐number variation analysis in 810 patients suspected of heritable thoracic aortic disorders.
- Published in:
- Human Mutation, 2018, v. 39, n. 9, p. 1173, doi. 10.1002/humu.23565
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- Publication type:
- Article
De novo mutations in the SET nuclear proto‐oncogene, encoding a component of the inhibitor of histone acetyltransferases (INHAT) complex in patients with nonsyndromic intellectual disability.
- Published in:
- Human Mutation, 2018, v. 39, n. 7, p. 1014, doi. 10.1002/humu.23541
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- Publication type:
- Article
SMAD2 Mutations Are Associated with Arterial Aneurysms and Dissections.
- Published in:
- Human Mutation, 2015, v. 36, n. 12, p. 1145, doi. 10.1002/humu.22854
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- Publication type:
- Article
Best Practice Guidelines for the Use of Next-Generation Sequencing Applications in Genome Diagnostics: A National Collaborative Study of Dutch Genome Diagnostic Laboratories.
- Published in:
- Human Mutation, 2013, v. 34, n. 10, p. 1313, doi. 10.1002/humu.22368
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- Publication type:
- Article
Leiden open variation database of the MUTYH gene.
- Published in:
- 2010
- By:
- Publication type:
- Other
FAIR Genomes metadata schema promoting Next Generation Sequencing data reuse in Dutch healthcare and research.
- Published in:
- Scientific Data, 2022, v. 9, n. 1, p. 1, doi. 10.1038/s41597-022-01265-x
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- Publication type:
- Article
De novo variants in TCF7L2 are associated with a syndromic neurodevelopmental disorder.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2384, doi. 10.1002/ajmg.a.62254
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- Publication type:
- Article
Fetal akinesia deformation sequence and massive perivillous fibrin deposition resulting in fetal death in six fetuses from one consanguineous couple, including literature review.
- Published in:
- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 11, p. 1, doi. 10.1002/mgg3.1827
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- Publication type:
- Article
Autosomal dominant Marfan syndrome caused by a previously reported recessive FBN1 variant.
- Published in:
- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 2, p. N.PAG, doi. 10.1002/mgg3.518
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- Publication type:
- Article
Helicobacter pylori-related and -non-related gastric cancers do not differ with respect to chromosomal aberrations.
- Published in:
- Journal of Pathology, 2000, v. 192, n. 3, p. 301, doi. 10.1002/1096-9896(2000)9999:9999<::AID-PATH697>3.0.CO;2-F
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- Publication type:
- Article