45 results on '"Minoche, André"'
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2. Fatal Perinatal Mitochondrial Cardiac Failure Caused by Recurrent De Novo Duplications in the ATAD3 Locus
3. Revealing hidden genetic diagnoses in the ocular anterior segment disorders
4. The genome of Ectocarpus subulatus – A highly stress-tolerant brown alga
5. The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease
6. Whole genome sequencing for the genetic diagnosis of heterogenous dystonia phenotypes
7. Genome sequencing as a first-line genetic test in familial dilated cardiomyopathy
8. Expanding the spectrum of PEX16 mutations and novel insights into disease mechanisms
9. Molecular signatures of plastic phenotypes in two eusocial insect species with simple societies
10. Defining the genetic basis of early onset hereditary spastic paraplegia using whole genome sequencing
11. The genome of the recently domesticated crop plant sugar beet (Beta vulgaris)
12. Diversification, evolution and methylation of short interspersed nuclear element families in sugar beet and related Amaranthaceae species
13. Survey of sugar beet (Beta vulgaris L.) hAT transposons and MITE-like hATpin derivatives
14. RLIM Is a Candidate Dosage-Sensitive Gene for Individuals with Varying Duplications of Xq13, Intellectual Disability, and Distinct Facial Features
15. Profiling of extensively diversified plant LINEs reveals distinct plant-specific subclades
16. The CHH motif in sugar beet satellite DNA: a modulator for cytosine methylation
17. Differential Expression Patterns of Non-Symbiotic Hemoglobins in Sugar Beet (Beta vulgaris ssp. vulgaris)
18. Architecture and evolution of a minute plant genome
19. Evolutionary reshuffling in the Errantivirus lineage Elbe within the Beta vulgaris genome
20. De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome
21. Genomes of the wild beets Beta patula and Beta vulgaris ssp. maritima
22. A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations
23. Whole Genome Sequencing Improves Outcomes of Genetic Testing in Patients With Hypertrophic Cardiomyopathy
24. The genome of Ectocarpus subulatus – a highly stress-tolerant brown alga
25. Additional file 1: of Genome and transcriptome analysis of the Mesoamerican common bean and the role of gene duplications in establishing tissue and temporal specialization of genes
26. Additional file 1: Table S1. of Exploiting single-molecule transcript sequencing for eukaryotic gene prediction
27. Additional file 2: of Exploiting single-molecule transcript sequencing for eukaryotic gene prediction
28. Response to Brodehl et al.
29. Cytosine Methylation of an Ancient Satellite Family in the Wild Beet Beta procumbens
30. Whole-genome sequencing overcomes pseudogene homology to diagnose autosomal dominant polycystic kidney disease
31. Genome and transcriptome analysis of the Mesoamerican common bean and the role of gene duplications in establishing tissue and temporal specialization of genes
32. The genome of sugar beet (Beta vulgaris) : assembly, annotation and interpretation of a complex plant genome
33. Exploiting single-molecule transcript sequencing for eukaryotic gene prediction
34. Identification of ALK Gene Alterations in Urothelial Carcinoma
35. Cytosine Methylation of an Ancient Satellite Family in the Wild Beet Beta procumbens
36. The genome of the recently domesticated crop plant sugar beet (Beta vulgaris)
37. Highly diverse chromoviruses of Beta vulgaris are classified by chromodomains and chromosomal integration
38. Evolutionary reshuffling in the Errantivirus lineage Elbe within theBeta vulgarisgenome
39. Erratum: Corrigendum: Identification of a mutation in the extracellular domain of the Epidermal Growth Factor Receptor conferring cetuximab resistance in colorectal cancer
40. Identification of a mutation in the extracellular domain of the Epidermal Growth Factor Receptor conferring cetuximab resistance in colorectal cancer
41. p53 Gene Repair with Zinc Finger Nucleases Optimised by Yeast 1-Hybrid and Validated by Solexa Sequencing
42. Epigenetic profiling of heterochromatic satellite DNA
43. Evaluation of genomic high-throughput sequencing data generated on Illumina HiSeq and Genome Analyzer systems
44. Identification of ALK Gene Alterations in Urothelial Carcinoma.
45. Fatal Perinatal Mitochondrial Cardiac Failure Caused by Recurrent De NovoDuplications in the ATAD3Locus
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