22 results on '"Filges, Isabel"'
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2. Common data elements for arthrogryposis multiplex congenita: An international framework
3. Fetal arthrogryposis—what do we tell the prospective parents?
4. Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology
5. Expanding theKIF4A‐associated phenotype
6. Expanding the spectrum of SMAD3 ‐related phenotypes to agnathia‐otocephaly
7. Fetal arthrogryposis: Challenges and perspectives for prenatal detection and management
8. A novel homozygous splice‐site mutation in RYR1 causes fetal hydrops and affects skeletal and smooth muscle development
9. Gene Discovery in Lethal Foetal Disorders
10. Exome sequencing for gene discovery in lethal fetal disorders - harnessing the value of extreme phenotypes
11. Brain MRI abnormalities and spectrum of neurological and clinical findings in three patients with proximal 16p11.2 microduplication
12. Scoliosis and vertebral anomalies: Additional abnormal phenotypes associated with chromosome 16p11.2 rearrangement
13. Failure to identify antenatal multiple congenital contractures and fetal akinesia - proposal of guidelines to improve diagnosis
14. We are failing to identify disorders of fetal movement - why?
15. Author's reply to Toutain's correspondence
16. Fetal Polydactyly
17. aCGH on chorionic villi mirrors the complexity of fetoplacental mosaicism in prenatal diagnosis
18. Interstitial deletion 1q42 in a patient with agenesis of corpus callosum: Phenotype-genotype comparison to the 1q41q42 microdeletion suggests a contiguous 1q4 syndrome
19. Familial 14.5 Mb interstitial deletion 13q21.1–13q21.33: Clinical and array‐CGH study of a benign phenotype in a three‐generation family
20. Mosaic ring chromosome 8: Clinical and array-CGH findings in partial trisomy 8
21. Subtelomeric 6p deletion: Clinical and array-CGH characterization in two patients
22. Exome sequencing for gene discovery in lethal fetal disorders--harnessing the value of extreme phenotypes.
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