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2. Genome sequencing in families with congenital limb malformations

3. SwissGenVar : A Platform for Clinical-Grade Interpretation of Genetic Variants to Foster Personalized Healthcare in Switzerland.

7. SwissGenVar: A platform for clinical grade interpretation of genetic variants to foster personalized health care in Switzerland

8. Fetal arthrogryposis—what do we tell the prospective parents?

9. Strφmme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF

13. Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology.

22. How genomics is changing the practice of prenatal testing.

23. Array comparative genomic hybridization in prenatal diagnosis of first trimester pregnancies at high risk for chromosomal anomalies

24. 'Kinesinopathies': emerging role of the kinesin family member genes in birth defects.

25. Expanding the spectrum of SMAD3‐related phenotypes to agnathia‐otocephaly.

27. Loss-of-function mutations in KIF14 cause severe microcephaly and kidney development defects in humans and zebrafish.

28. Éléments de données communs pour l'arthrogrypose multiple congénitale: Un cadre international.

29. Elementos de datos comunes para la artrogriposis múltiple congénita: Un marco internacional.

30. Common data elements for arthrogryposis multiplex congenita: An international framework.

32. A novel homozygous splice-site mutation in RYR1 causes fetal hydrops and affects skeletal and smooth muscle development.

33. Autism and intellectual disability in a patient with two microdeletions in 6q16: a contiguous gene deletion syndrome?

35. Chromosomal Microarrays in Prenatal Diagnosis: Time for a Change of Policy?

37. Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome.

38. High resolution array in the clinical approach to chromosomal phenotypes

39. Microarray-Based Maps of Copy-Number Variant Regions in European and Sub-Saharan Populations.

43. A novel missense mutation in the high mobility group domain of SRY drastically reduces its DNA-binding capacity and causes paternally transmitted 46,XY complete gonadal dysgenesis

44. The human ciliopathy protein RSG1 links the CPLANE complex to transition zone architecture.

46. Expanding the KIF4A-associated phenotype.

47. Co-therapy with S-adenosylmethionine and nicotinamide riboside improves t-cell survival and function in Arts Syndrome (PRPS1 deficiency).

50. Increased Fetal Nuchal Translucency - Also a Risk for a Rare Submicroscopic Chromosomal Abnormalities.

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