331 results on '"Weiss, Marjan M"'
Search Results
2. Early On-treatment Circulating Tumor DNA Measurements and Response to Immune Checkpoint Inhibitors in Advanced Urothelial Cancer
3. Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients.
4. Recommendations for whole genome sequencing in diagnostics for rare diseases
5. Fetal fraction of cell-free DNA in noninvasive prenatal testing and adverse pregnancy outcomes: a nationwide retrospective cohort study of 56,110 pregnant women
6. Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome
7. FAIR Genomes metadata schema promoting Next Generation Sequencing data reuse in Dutch healthcare and research
8. Fetal fraction of cell-free DNA in noninvasive prenatal testing and adverse pregnancy outcomes: a nationwide retrospective cohort study of 56,110 pregnant women
9. Bi-allelic Pathogenic Variants in HS2ST1 Cause a Syndrome Characterized by Developmental Delay and Corpus Callosum, Skeletal, and Renal Abnormalities
10. Missense-depleted regions in population exomes implicate ras superfamily nucleotide-binding protein alteration in patients with brain malformation.
11. TRIDENT-2: National Implementation of Genome-wide Non-invasive Prenatal Testing as a First-Tier Screening Test in the Netherlands
12. Fetal fraction of cell-free DNA in non-invasive prenatal testing and adverse pregnancy outcomes: a nationwide retrospective cohort study of 56,110 pregnant women
13. Origin and clinical relevance of chromosomal aberrations other than the common trisomies detected by genome-wide NIPS: results of the TRIDENT study
14. Fetal fraction evaluation in non-invasive prenatal screening (NIPS)
15. Early On-treatment Circulating Tumor DNA Measurements and Response to Immune Checkpoint Inhibitors in Advanced Urothelial Cancer
16. The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families
17. Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activity
18. Genomic Alterations in Primary Gastric Adenocarcinomas Correlate with Clinicopathological Characteristics and Survival
19. Fetal fraction of cell-free DNA in noninvasive prenatal testing and adverse pregnancy outcomes:a nationwide retrospective cohort study of 56,110 pregnant women
20. Genomic imbalances defining novel intellectual disability associated loci
21. Supplementary Table 2 from Clinical Predictors for Germline Mutations in Head and Neck Paraganglioma Patients: Cost Reduction Strategy in Genetic Diagnostic Process as Fall-Out
22. Other Supporting Colleagues from Clinical Predictors for Germline Mutations in Head and Neck Paraganglioma Patients: Cost Reduction Strategy in Genetic Diagnostic Process as Fall-Out
23. Supplementary Table 1 from Clinical Predictors for Germline Mutations in Head and Neck Paraganglioma Patients: Cost Reduction Strategy in Genetic Diagnostic Process as Fall-Out
24. Data from Clinical Predictors for Germline Mutations in Head and Neck Paraganglioma Patients: Cost Reduction Strategy in Genetic Diagnostic Process as Fall-Out
25. Supplementary Table 1 Legends and References from Clinical Predictors for Germline Mutations in Head and Neck Paraganglioma Patients: Cost Reduction Strategy in Genetic Diagnostic Process as Fall-Out
26. Circulating tumor DNA detection after neoadjuvant treatment and surgery predicts recurrence in patients with early-stage and locally advanced rectal cancer
27. WISExome: a within-sample comparison approach to detect copy number variations in whole exome sequencing data
28. First steps in exploring prospective exome sequencing of consanguineous couples
29. Circulating Tumor DNA-Based Disease Monitoring of Patients with Locally Advanced Esophageal Cancer
30. Exonic Deletions in AUTS2 Cause a Syndromic Form of Intellectual Disability and Suggest a Critical Role for the C Terminus
31. FAIR Genomes metadata schema promoting Next Generation Sequencing data reuse in Dutch healthcare and research
32. First genetic analysis of aneurysm genes in familial and sporadic abdominal aortic aneurysm
33. Erratum:Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome (The American Journal of Human Genetics (2018) 103(3) (431–439), (S0002929718302374), (10.1016/j.ajhg.2018.07.010))
34. Complete COL1A1 allele deletions in osteogenesis imperfecta
35. Association between low fetal fraction in cell-free DNA testing and adverse pregnancy outcome: A systematic review:A systematic review
36. Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome
37. Fetal akinesia deformation sequence and massive perivillous fibrin deposition resulting in fetal death in six fetuses from one consanguineous couple, including literature review
38. SMAD2 Mutations Are Associated with Arterial Aneurysms and Dissections
39. Recessive ITPA mutations cause an early infantile encephalopathy
40. Susceptibility allele-specific loss of miR-1324-mediated silencing of the INO80B chromatin-assembly complex gene in pre-eclampsia
41. Chromosomal changes in sporadic and familial head and neck paragangliomas
42. Detection limits of DNA copy number alterations in heterogeneous cell populations
43. Association between low fetal fraction in cell‐free DNA testing and adverse pregnancy outcome: A systematic review
44. Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome (vol 103, pg 431, 2018)
45. Association between low fetal fraction in cell-free DNA testing and adverse pregnancy outcome: A systematic review
46. Fetal akinesia deformation sequence and massive perivillous fibrin deposition resulting in fetal death in six fetuses from one consanguineous couple, including literature review
47. Increased MUTYH mutation frequency among Dutch families with breast cancer and colorectal cancer
48. De novo variants inTCF7L2are associated with a syndromic neurodevelopmental disorder
49. The natural history of a combined defect in MSH6 and MUTYH in a HNPCC family
50. MUTYH and the mismatch repair system: partners in crime?
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