772 results on '"Brunner, Han G"'
Search Results
2. Genome sequencing as a generic diagnostic strategy for rare disease
3. Prevalence of chromosomal alterations in first-trimester spontaneous pregnancy loss
4. Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome
5. Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes
6. Diagnostic and prognostic relevance of using large gene panels in the genetic testing of patients with dilated cardiomyopathy
7. Clonal Hematopoiesis Has Prognostic Value in Dilated Cardiomyopathy Independent of Age and Clone Size
8. Exploring uncertainties regarding unsolicited findings in genetic testing
9. A recurrent de novo MAX p.Arg60Gln variant causes a syndromic overgrowth disorder through differential expression of c-Myc target genes
10. Left Atrial Function in Patients with Titin Cardiomyopathy
11. Comprehensive de novo mutation discovery with HiFi long-read sequencing
12. The performance of genome sequencing as a first-tier test for neurodevelopmental disorders
13. Clustering of Cardiac Transcriptome Profiles Reveals Unique: Subgroups of Dilated Cardiomyopathy Patients
14. Clinical Risk Score to Predict Pathogenic Genotypes in Patients With Dilated Cardiomyopathy
15. Lessons learned from unsolicited findings in clinical exome sequencing of 16,482 individuals
16. DTYMK is essential for genome integrity and neuronal survival
17. Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applications
18. Diagnostic exome-based preconception carrier testing in consanguineous couples: results from the first 100 couples in clinical practice
19. The impact of unsolicited findings in clinical exome sequencing, a qualitative interview study
20. Long-read trio sequencing of individuals with unsolved intellectual disability
21. Metabolic Profiling Associates with Disease Severity in Nonischemic Dilated Cardiomyopathy
22. Heterozygous variants that disturb the transcriptional repressor activity of FOXP4 cause a developmental disorder with speech/language delays and multiple congenital abnormalities
23. Spectrum of congenital anomalies among VACTERL cases: a EUROCAT population-based study
24. Cardiac Inflammation Impedes Response to Cardiac Resynchronization Therapy in Patients with Idiopathic Dilated Cardiomyopathy
25. Genetic architecture of subcortical brain structures in 38,851 individuals
26. Next-generation phenotyping using computer vision algorithms in rare genomic neurodevelopmental disorders
27. Assessment of fibroblast nuclear morphology aids interpretation of LMNA variants
28. 1 in 38 individuals at risk of a dominant medically actionable disease
29. Genetic variants for head size share genes and pathways with cancer
30. Germline AGO2 mutations impair RNA interference and human neurological development
31. Lessons learned from rapid exome sequencing for 575 critically ill patients across the broad spectrum of rare disease.
32. Distinct Cardiac Transcriptomic Clustering in Titin and Lamin A/C-Associated Dilated Cardiomyopathy Patients
33. De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation
34. De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder
35. A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency
36. Correction: Long-read trio sequencing of individuals with unsolved intellectual disability
37. Leveraging genomic diversity to promote human and animal health
38. Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
39. Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
40. Parental Subfertility, Fertility Treatment, and the Risk of Congenital Anorectal Malformations
41. A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder
42. Clinical Phenotype and Genotype Associations With Improvement in Left Ventricular Function in Dilated Cardiomyopathy
43. Prevalence of Pathogenic Gene Mutations and Prognosis Do Not Differ in Isolated Left Ventricular Dysfunction Compared With Dilated Cardiomyopathy
44. An E280K Missense Variant in KCND3 /Kv4.3—Case Report and Functional Characterization.
45. Autism spectrum disorder and brain volume link through a set of mTOR‐related genes.
46. CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
47. High Satisfaction and Low Distress in Breast Cancer Patients One Year after BRCA-Mutation Testing without Prior Face-to-Face Genetic Counseling
48. Expanding the clinical spectrum of recessive truncating mutations of KLHL7 to a Bohring-Opitz-like phenotype
49. Abstract 14131: Propionic Acidemia as a Cause of Adult-onset Dilated Cardiomyopathy
50. Clinical geneticists' views on and experiences with unsolicited findings in next‐generation sequencing: "A great technology creating new dilemmas".
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