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1. Clinical-grade whole genome sequencing-based haplarithmisis enables all forms of preimplantation genetic testing

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

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

12. The performance of genome sequencing as a first-tier test for neurodevelopmental disorders

14. Clinical Risk Score to Predict Pathogenic Genotypes in Patients With Dilated Cardiomyopathy

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

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

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.

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

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

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

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

48. Expanding the clinical spectrum of recessive truncating mutations of KLHL7 to a Bohring-Opitz-like phenotype

50. Clinical geneticists' views on and experiences with unsolicited findings in next‐generation sequencing: "A great technology creating new dilemmas".

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