222 results on '"Blaumeiser, Bettina"'
Search Results
2. The impact of confined placental mosaicism on prenatal cell-free DNA screening: Insights from a monocentric study of 99 cases
3. Congenital hydrocephalus: new Mendelian mutations and evidence for oligogenic inheritance
4. Chromosomal microarray analysis in prenatal diagnosis : ethical considerations of the Belgian approach
5. Outcome of publicly funded nationwide first-tier noninvasive prenatal screening
6. Implementation of Fetal Clinical Exome Sequencing: Comparing Prospective and Retrospective Cohorts
7. Syntaxin 18 defects in human and zebrafish unravel key roles in early cartilage and bone development
8. Genome-Wide MicroRNA Analysis Implicates miR-30b/d in the Etiology of Alopecia Areata
9. Population screening for 15q11-q13 duplications: corroboration of the difference in impact between maternally and paternally inherited alleles
10. Implementation of Exome Sequencing in Prenatal Diagnostics: Chances and Challenges
11. Population screening for 15q11-q13 duplications: corroboration of the difference in impact between maternally and paternally inherited alleles
12. Assessment of the Genetic Spectrum of Uncombable Hair Syndrome in a Cohort of 107 Individuals
13. Assessment of the Genetic Spectrum of Uncombable Hair Syndrome in a Cohort of 107 Individuals
14. Implementation of genomic arrays in prenatal diagnosis: The Belgian approach to meet the challenges
15. Prenatale diagnostiek anno 2015
16. Assessment of the Genetic Spectrum of Uncombable Hair Syndrome in a Cohort of 107 Individuals
17. Tetrasomy 9p, a Prenatal Challenge: Two Novel Cases
18. Implementation of fetal clinical exome sequencing: Comparing prospective and retrospective cohorts
19. A rare cause of primary amenorrhoea, the XY female with gonadal dysgenesis
20. Non‐invasive prenatal testing detects blood chimerism in dizygotic twins
21. Prevalence of Germline Pathogenic Variants in Cancer Predisposing Genes in Czech and Belgian Pancreatic Cancer Patients
22. Phenotypes and genotypes in non‐consanguineous and consanguineous primary microcephaly: High incidence of epilepsy
23. Pushing the Limits of Prenatal Ultrasound: A Case of Dorsal Dermal Sinus Associated with an Overt Arnold–Chiari Malformation and a 3q Duplication
24. Difference in Procedure-Related Risk of Miscarriage between Early and Mid-Trimester Amniocentesis: A Retrospective Cohort Study
25. Performance and Diagnostic Value of Genome-Wide Noninvasive Prenatal Testing in Multiple Gestations
26. Performance and Diagnostic Value of Genome-Wide Noninvasive Prenatal Testing in Multiple Gestations.
27. Phenotypes and genotypes in non-consanguineous and consanguineous primary microcephaly: High incidence of epilepsy.
28. Outcome of publicly funded nationwide first-tier noninvasive prenatal screening.
29. Implementation of fetal clinical exome sequencing: Comparing prospective and retrospective cohorts.
30. Phenotypes and genotypes in non-consanguineous and consanguineous primary microcephaly: High incidence of epilepsy
31. Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci
32. Prenatally detected copy number variants in a national cohort: A postnatal follow-up study.
33. Phenotypes and genotypes in outbred and inbred Primary microcephaly: high incidence of epilepsy
34. Genetic variation in the human androgen receptor gene is the major determinant of common early-onset androgenetic alopecia
35. Non‐invasive prenatal testing detects blood chimerism in dizygotic twins.
36. Familial aggregation of alopecia areata
37. Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus
38. Association of hereditary angioedema type 1 with developmental anomalies due to a large and unusual de novo pericentromeric rearrangement of chromosome 11 spanning the entire C1 inhibitor gene (SERPING1)
39. Prenatally detected copy number variants in a national cohort: A postnatal follow‐up study
40. Terminal deletion of chromosome 13 in a fetus with normal NIPT: The added value of invasive prenatal diagnosis in the NIPT era
41. Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15
42. Feingold Syndrome Associated With Two Novel MYCN Mutations in Sporadic and Familial Cases Including Monozygotic Twins
43. Spectrum of movement disorders in 18p deletion syndrome
44. GM1 Gangliosidosis: Molecular Analysis of Nine Patients and Development of an RT-PCR Assay for GLB1 Gene Expression Profiling
45. The BElgian PREnatal MicroArray (BEMAPRE) database : a systematic nationwide repository of fetal genomic aberrations
46. Reply to: The Spectrum of Movement Disorders in 18p Deletion Syndrome
47. Chromosomal microarray analysis in prenatal diagnosis: ethical considerations of the Belgian approach
48. Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15
49. Spectrum of Movement Disorders in 18p Deletion Syndrome
50. The Belgian MicroArray Prenatal (BEMAPRE) database: A systematic nationwide repository of fetal genomic aberrations
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