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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. Phenotypic and mutational spectrum of ROR2‐related Robinow syndrome

5. Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome

6. Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes

10. A recurrent de novo MAX p.Arg60Gln variant causes a syndromic overgrowth disorder through differential expression of c-Myc target genes

11. Left Atrial Function in Patients with Titin Cardiomyopathy

13. Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature

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

16. Neandertal Introgression Sheds Light on Modern Human Endocranial Globularity

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

19. DTYMK is essential for genome integrity and neuronal survival

20. De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder

21. Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applications

22. Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes

23. Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome

24. Refining the 9q34.3 microduplication syndrome reveals mild neurodevelopmental features associated with a distinct global DNA methylation profile

29. Lessons learned from rapid exome sequencing for 575 critically ill patients across the broad spectrum of rare disease

30. Heterozygous variants that disturb the transcriptional repressor activity of FOXP4 cause a developmental disorder with speech/language delays and multiple congenital abnormalities

31. De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome

32. The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant

33. DVL3 Alleles Resulting in a −1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome

34. DVL3 Alleles Resulting in a -1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome.

35. Spectrum of congenital anomalies among VACTERL cases: a EUROCAT population-based study

36. The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery

37. Variants in CUL4B are Associated with Cerebral Malformations

38. The ENIGMA Consortium: large-scale collaborative analyses of neuroimaging and genetic data

39. Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.

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

42. Cardiac Inflammation Impedes Response to Cardiac Resynchronization Therapy in Patients with Idiopathic Dilated Cardiomyopathy

43. Genome-wide association analysis of anti-TNF drug response in patients with rheumatoid arthritis

44. Genetic architecture of subcortical brain structures in 38,851 individuals

48. Genetic variants for head size share genes and pathways with cancer

49. Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients withZNF148mutations

50. Systemic Inflammation and Normocytic Anemia in DOCK11 Deficiency

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