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29 results on '"Waisfisz, Quinten"'

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1. Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype

2. A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder

3. Germline variants in HEY2 functional domains lead to congenital heart defects and thoracic aortic aneurysms

4. Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome

5. Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome

6. Correction to: An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

7. Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome

8. An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

9. Germline variants in HEY2 functional domains lead to congenital heart defects and thoracic aortic aneurysms

10. Interaction between KDELR2 and HSP47 as a Key Determinant in Osteogenesis Imperfecta Caused by Bi-allelic Variants in KDELR2

11. Variants in SCAF4 Cause a Neurodevelopmental Disorder and Are Associated with Impaired mRNA Processing

12. Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum

13. Genetic determinants of risk in pulmonary arterial hypertension: international genome-wide association studies and meta-analysis

14. Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome

15. Bi-allelic Mutations in EPRS, Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating Leukodystrophy

16. Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy

17. Modeling Linkage Disequilibrium Increases Accuracy of Polygenic Risk Scores

19. Excess breast cancer risk in first degree relatives of CHEK2∗1100delC positive familial breast cancer cases

20. Proteomics of Mouse BRCA1-deficient Mammary Tumors Identifies DNA Repair Proteins with Potential Diagnostic and Prognostic Value in Human Breast Cancer

21. Familial multiple discoid fibromas: A look-alike of Birt-Hogg-Dubé syndrome not linked to the FLCN locus

22. Palb2 Seems Not to Be Involved in Pancreatic Cancer and/or Breast Cancer Development in a Dutch Cohort of Familial Pancreatic Cancer-Families and Families With Clustering of Both Pancreatic Cancer and Breast Cancer

24. The Fanconi Anemia Gene Product FANCF Is a Flexible Adaptor Protein

25. Yeast two-hybrid screens imply involvement of fanconi anemia proteins in transcription regulation, cell signaling, oxidative metabolism, and cellular transport

26. Isolation of a cDNA Representing the Fanconi Anemia Complementation Group E Gene

28. The Fanconi Anemia Group E Gene, FANCE, Maps to Chromosome 6p

29. Genetic determinants of risk in pulmonary arterial hypertension: international genome-wide association studies and meta-analysis

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