29 results on '"Schepens, Marga"'
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2. Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome
3. Characterization of a novel transcript of the EHMT1 gene reveals important diagnostic implications for Kleefstra syndrome
4. Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome
5. Regulation of the MiTF/TFE bHLH-LZ transcription factors through restricted spatial expression and alternative splicing of functional domains
6. Upregulation of the transcription factor TFEB in t(6;11)(p21;q13)-positive renal cell carcinomas due to promoter substitution
7. Germ cell tumours in neonates and infants: a distinct subgroup?
8. Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome
9. A novel case of infantile sacral teratoma and a constitutional t(12;15)(q13;q25) pat
10. Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome
11. Frequent Loss of 9p21 ( p16INK4A) and Other Genomic Imbalances in Human Malignant Fibrous Histiocytoma
12. Characterization of SETD1Ahaploinsufficiency in humans and Drosophiladefines a novel neurodevelopmental syndrome
13. Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome
14. Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome
15. Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome
16. Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome
17. Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings
18. Identification ofCUX1as the recurrent chromosomal band 7q22 target gene in human uterine leiomyoma
19. Disruption of a novel gene,DIRC3, and expression ofDIRC3-HSPBAP1 fusion transcripts in a case of familial renal cell cancer and t(2;3)(q35;q21)
20. The cancer‐related protein SSX2 interacts with the human homologue of a Ras‐like GTPase interactor, RAB3IP, and a novel nuclear protein, SSX2IP
21. Identification and Characterization of an Xq26–q27 Duplication in a Family with Spina Bifida and Panhypopituitarism Suggests the Involvement of Two Distinct Genes
22. Construction of a 350-kb Sequence-Ready 11q13 Cosmid Contig Encompassing the Markers D11S4933 and D11S546: Mapping of 11 Genes and 3 Tumor-Associated Translocation Breakpoints
23. A novel chromosomal region of allelic loss, 4q32-q34, in human osteosarcomas revealed by representational difference analysis
24. Absence of an Obvious Molecular Imprinting Mechanism in a Human Fetus with MonoallelicIGF2RExpression
25. TheMASProto-Oncogene Is Not Imprinted in Humans
26. Maternal-Specific Methylation of the HumanIGF2RGene Is Not Accompanied by Allele-Specific Transcription
27. Identification of CUX1 as the recurrent chromosomal band 7q22 target gene in human uterine leiomyoma.
28. The insulin–like growth factor type–2 receptor gene is imprinted in the mouse but not in humans
29. Disruption of a novel gene, DIRC3, and expression of DIRC3-HSPBAP1 fusion transcripts in a case of familial renal cell cancer and t(2;3)(q35;q21).
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