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165 results on '"Haan, Eric"'

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1. Prioritization of Drug Targets for Neurodegenerative Diseases by Integrating Genetic and Proteomic Data From Brain and Blood

2. Variant Location Is a Novel Risk Factor for Individuals With Arrhythmogenic Cardiomyopathy Due to a Desmoplakin ( DSP ) Truncating Variant

3. Functional genomics analysis identifies loss ofHNF1Bfunction as a cause of Mayer–Rokitansky–Küster–Hauser syndrome

4. Functional genomics analysis identifies impairment of HNF1B function as a cause of Mayer-Rokitansky-Küster-Hauser syndrome

5. Pathogenic variants in MDFIC cause recessive central conducting lymphatic anomaly with lymphedema

6. Oligonucleotide correction of an intronic TIMMDC1 variant in cells of patients with severe neurodegenerative disorder

7. Natural history of NF1 c.2970_2972del p.(Met992del): confirmation of a low risk of complications in a longitudinal study

8. Variant location is a novel risk factor for individuals with arrhythmogenic cardiomyopathy due to a desmoplakin (DSP) truncating variant

9. Marfan syndrome resulting from a rare pathogenic FBN1 variant, ascertained through a proband with IgG4 ‐related arteriopathy

12. Long QT Syndrome Type 1 in an Australian Indigenous Patient

13. Clinical spectrum of individuals with pathogenicN F1missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1

14. Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission

15. Mutations inELAC2associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3′‐end processing

16. Clinical and molecular spectrum of CHOPS syndrome

17. De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

18. Assessment of myocardial oxygenation, strain, and diastology in MYBPC3-related hypertrophic cardiomyopathy: a cardiovascular magnetic resonance and echocardiography study

19. DelineatingFOXG1syndrome

20. De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

21. A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations

22. Genetic variation affecting DNA methylation and the human imprinting disorder, Beckwith-Wiedemann syndrome

23. Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3’-end processing

24. Mutations in the Epithelial Cadherin-p120-Catenin Complex Cause Mendelian Non-Syndromic Cleft Lip with or without Cleft Palate

25. Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder

26. Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains

27. YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction

29. Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases

31. A novel heterozygous mutation in cardiac calsequestrin causes autosomal dominant catecholaminergic polymorphic ventricular tachycardia

34. IncreasedSTAG2dosage defines a novel cohesinopathy with intellectual disability and behavioral problems

35. THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability

36. Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

37. Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiency

41. Homozygous mutation of STXBP5L explains an autosomal recessive infantile-onset neurodegenerative disorder

42. Human Genetics Society of Australasia Position Statement: Population-Based Carrier Screening for Cystic Fibrosis

44. Refining analyses of copy number variation identifies specific genes associated with developmental delay

45. Frontotemporal dementia and its subtypes: a genome-wide association study

46. FRA2A Is a CGG Repeat Expansion Associated with Silencing of AFF3

48. Cognitive deficit and autism spectrum disorders: prospective diagnosis by array CGH

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