159 results on '"Krumbiegel, Mandy"'
Search Results
2. Aberrant phase separation and nucleolar dysfunction in rare genetic diseases
3. Expanding the phenotype of 12q21 deletions: A role of BTG1 in speech development?
4. Microdeletions at 19p13.11p12 in five individuals with neurodevelopmental delay
5. SRD5A3-CDG: Twins with an intragenic tandem duplication
6. Severe manifestation of Rauch‐Azzarello syndrome associated with biallelic deletion of CTNND2.
7. A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome
8. α-Synuclein oligomers induce early axonal dysfunction in human iPSC-based models of synucleinopathies
9. The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy
10. Need for high-resolution Genetic Analysis in iPSC: Results and Lessons from the ForIPS Consortium
11. Generation of a homozygous and a heterozygous SNCA gene knockout human-induced pluripotent stem cell line by CRISPR/Cas9 mediated allele-specific tuning of SNCA expression
12. Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders
13. FOXP2 variants in 14 individuals with developmental speech and language disorders broaden the mutational and clinical spectrum
14. Small Interstitial Deletion at Chromosome 12q21.33q22 in an Individual with Pronounced Delay in Speech Development
15. De novo missense variants in FBXO11 alter its protein expression and subcellular localization
16. BDV Syndrome: an Emerging Syndrome With Profound Obesity and Neurodevelopmental Delay Resembling Prader-Willi Syndrome
17. Comprehensive screening for mutations associated with colorectal cancer in unselected cases reveals penetrant and nonpenetrant mutations
18. A noninvasive diagnostic approach to retrospective donor HLA typing in kidney transplant patients using urine
19. Clinical, neuroimaging, and molecular spectrum of TECPR2 ‐associated hereditary sensory and autonomic neuropathy with intellectual disability
20. Clinical and molecular delineation of spondylocostal dysostosis type 3
21. De Novo Triplication of the MAPT Gene From the Recurrent 17q21.31 Microdeletion Region in a Patient With Moderate Intellectual Disability and Various Minor Anomalies
22. Clinical, neuroimaging and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability
23. 7q31.2q31.31 deletion downstream of FOXP2 segregating in a family with speech and language disorder
24. CRISPR/Cas9 mediated generation of human ARID1B heterozygous knockout hESC lines to model Coffin-Siris syndrome
25. Additional file 1: of The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy
26. Prenatal diagnosis of HNF1B-associated renal cysts: Is there a need to differentiate intragenic variants from 17q12 microdeletion syndrome?
27. Prenatal diagnosis of HNF1B ‐associated renal cysts: Is there a need to differentiate intragenic variants from 17q12 microdeletion syndrome?
28. Delineation of MidXq28‐duplication syndrome distal to MECP2 and proximal to RAB39B genes
29. Prenatal diagnosis of HNF1B-associated renal cysts: Need to differentiate intragenic variants from 17q12 microdeletion syndrome?
30. A biallelic truncating AEBP1 variant causes connective tissue disorder in two siblings
31. GPFrontend and GPGraphics: graphical analysis tools for genetic association studies
32. Need for high-resolution Genetic Analysis in iPSC: Results and Lessons from the ForIPS Consortium
33. Basic Amino Acid Residues in the V3 Loop of Simian Immunodeficiency Virus Envelope Alter Viral Coreceptor Tropism and Infectivity but Do Not Allow Efficient Utilization of CXCR4 as Entry Cofactor
34. The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy
35. Need for high-resolution Genetic Analysis in iPSC: Results and Lessons from the ForIPS Consortium Authors
36. Haploinsufficiency of NR4A2 is associated with a neurodevelopmental phenotype with prominent language impairment
37. Erratum: A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome (Nature Genetics (2015) 47 (387-392))
38. A biallelic truncating AEBP1 variant causes connective tissue disorder in two siblings.
39. A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome
40. Gene panel sequencing in familial breast/ovarian cancer patients identifies multiple novel mutations also in genes others than BRCA1/2
41. Gene panel sequencing in familial breast/ovarian cancer patients identifies multiple novel mutations also in genes others than BRCA1/2.
42. Comprehensive screening for mutations associated with colorectal cancer in unselected cases reveals penetrant and nonpenetrant mutations
43. De novo triplication of theMAPTgene from the recurrent 17q21.31 microdeletion region in a patient with moderate intellectual disability and various minor anomalies
44. FOXP2variants in 14 individuals with developmental speech and language disorders broaden the mutational and clinical spectrum
45. Apolipoprotein E Genotypes in Pseudoexfoliation Syndrome and Pseudoexfoliation Glaucoma
46. GPFrontend and GPGraphics: graphical analysis tools for genetic association studies
47. Genome-wide association study with DNA pooling identifies variants at CNTNAP2 associated with pseudoexfoliation syndrome
48. Exploring Functional Candidate Genes for Genetic Association in German Patients with Pseudoexfoliation Syndrome and Pseudoexfoliation Glaucoma
49. Association ofLOXL1Common Sequence Variants in German and Italian Patients with Pseudoexfoliation Syndrome and Pseudoexfoliation Glaucoma
50. LSECtin interacts with filovirus glycoproteins and the spike protein of SARS coronavirus
Catalog
Books, media, physical & digital resources
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.