202 results on '"Filges, Isabel"'
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2. Anwendung genetischer Untersuchungen in der Pränataldiagnostik
3. ‘It’s a nightmare’: informed consent in paediatric genome-wide sequencing. A qualitative expert interview study from Germany and Switzerland
4. Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology
5. Genetische Entwicklungsanomalien – Transition am Beispiel des Down Syndroms
6. Anwendung genetischer Untersuchungen in der Pränataldiagnostik
7. Éléments de données communs pour l'arthrogrypose multiple congénitale: Un cadre international
8. Common data elements for arthrogryposis multiplex congenita: An international framework
9. SwissGenVar : A Platform for Clinical-Grade Interpretation of Genetic Variants to Foster Personalized Healthcare in Switzerland.
10. Genome sequencing in families with congenital limb malformations
11. The full spectrum of ethical issues in pediatric genome-wide sequencing: a systematic qualitative review
12. CUGC for Stromme syndrome and CENPF-related disorders
13. The Genetics of GER and GERD
14. Exome sequencing of fetal anomaly syndromes: novel phenotype–genotype discoveries
15. Fetal hyperechogenic kidneys: the significance of family assessment
16. Fetal arthrogryposis—what do we tell the prospective parents?
17. SwissGenVar: A platform for clinical grade interpretation of genetic variants to foster personalized health care in Switzerland
18. Conseil gntique: concepts malentendus et perspectives
19. Genetische Beratung: Konzepte Missverstndnisse Perspektiven
20. SwissGenVar: A platform for clinical grade interpretation of genetic variants to foster personalized health care in Switzerland
21. Genetische Beratung: Konzepte, Missverständnisse, Perspektiven
22. Umbilical Cord and Placenta
23. Strφmme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF
24. Exome sequencing for gene discovery in lethal fetal disorders – harnessing the value of extreme phenotypes
25. Expanding theKIF4A‐associated phenotype
26. How genomics is changing the practice of prenatal testing
27. Additional file 1 of The full spectrum of ethical issues in pediatric genome-wide sequencing: a systematic qualitative review
28. Co-therapy with S-adenosylmethionine and nicotinamide riboside improves t-cell survival and function in Arts Syndrome (PRPS1 deficiency)
29. Brain MRI abnormalities and spectrum of neurological and clinical findings in three patients with proximal 16p11.2 microduplication
30. Scoliosis and vertebral anomalies: Additional abnormal phenotypes associated with chromosome 16p11.2 rearrangement
31. Gene Ontology Enrichment Analysis of Renal Agenesis: Improving Prenatal Molecular Diagnosis
32. Failure to identify antenatal multiple congenital contractures and fetal akinesia – proposal of guidelines to improve diagnosis
33. We are failing to identify disorders of fetal movement – why?
34. Authorʼs reply to Toutainʼs correspondence
35. aCGH on chorionic villi mirrors the complexity of fetoplacental mosaicism in prenatal diagnosis
36. Reduced expression by SETBP1 haploinsufficiency causes developmental and expressive language delay indicating a phenotype distinct from Schinzel–Giedion syndrome
37. Congenital hyperinsulinemic hypoglycemia: A case report
38. ‘Kinesinopathies’: emerging role of the kinesin family member genes in birth defects
39. Altbewährt – und dennoch (fast) ganz neu
40. Dual independent genetic etiologies in a lethal complex malformation phenotype
41. Expanding the spectrum of SMAD3 ‐related phenotypes to agnathia‐otocephaly
42. CUGC for Stromme syndrome and CENPF-related disorders
43. Mosaic ring chromosome 8: Clinical and array-CGH findings in partial trisomy 8
44. Subtelomeric 6p Deletion: Clinical and Array-CGH Characterization in Two Patients
45. Array comparative genomic hybridization in prenatal diagnosis of first trimester pregnancies at high risk for chromosomal anomalies
46. Fetal arthrogryposis: Challenges and perspectives for prenatal detection and management
47. A Diagnostic Challenge: Prenatal Ultrasound Findings in Severe Epidermolysis Bullosa
48. Loss-of-function mutations inKIF14cause severe microcephaly and kidney development defects in humans and zebrafish
49. Entwicklung der genetischen und genomischen Medizin in der Schweiz
50. Foetal Diagnosis
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