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Publications tagged with this subject: 50

Note: Top 50 publications shown only. Open an item panel to view more info


1. TMEM230 Mutations Are Rare in Han Chinese Patients with Autosomal Dominant Parkinson’s Disease

2. A novel NHS mutation causes Nance-Horan Syndrome in a Chinese family

3. Characterization of a splice-site mutation in the tumor suppressor gene FLCN associated with renal cancer

4. Highly Sensitive and Reliable Detection of EGFR Exon 19 Deletions by Droplet Digital Polymerase Chain Reaction

5. Complete genome sequence of the heavy metal resistant bacterium Agromyces aureus AR33T and comparison with related Actinobacteria

6. COLD-PCR Technologies in the Area of Personalized Medicine: Methodology and Applications

7. Complete genome sequence of T’Ho virus, a novel putative flavivirus from the Yucatan Peninsula of Mexico

8. Identification and in silico characterization of p.G380R substitution in FGFR3, associated with achondroplasia in a non-consanguineous Pakistani family

9. Gene panel sequencing in Brazilian patients with retinitis pigmentosa

10. Evaluating the Calling Performance of a Rare Disease NGS Panel for Single Nucleotide and Copy Number Variants

11. Mutational and biochemical findings in adults with persistent hypophosphatasemia

12. Novel FAM134B mutations and their clinicopathological significance in colorectal cancer

13. Multiple MYO18A-PDGFRB fusion transcripts in a myeloproliferative neoplasm patient with t(5;17)(q32;q11)

14. Mutations in the APC gene in Russian patients with classic form of familial adenomatous polyposis

15. Identification of autism-related MECP2 mutations by whole-exome sequencing and functional validation

16. Novel BRCA1 splice-site mutation in ovarian cancer patients of Slavic origin

17. MLPA identification of dystrophin mutations and in silico evaluation of the predicted protein in dystrophinopathy cases from India

18. Next-generation sequencing for D47N mutation in Cx50 analysis associated with autosomal dominant congenital cataract in a six-generation Chinese family

19. The complete nucleotide sequence and genome organization of a novel betaflexivirus infecting Citrullus lanatus

20. A homozygous missense variant in HSD17B4 identified in a consanguineous Chinese Han family with type II Perrault syndrome

21. Identification of a large intronic transposal insertion in SLC17A5 causing sialic acid storage disease

22. Next-generation sequencing of Dreissena polymorpha transcriptome sheds light on its mitochondrial DNA

23. Genome editing in potato plants by agrobacterium-mediated transient expression of transcription activator-like effector nucleases

24. Novel missense mutation in the bZIP transcription factor, MAF, associated with congenital cataract, developmental delay, seizures and hearing loss (Aymé-Gripp syndrome)

25. Case reports of juvenile GM1 gangliosidosisis type II caused by mutation in GLB1 gene

26. Targeted next-generation sequencing for identifying genes related to horse temperament

27. Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues

28. The sole introduction of two single-point mutations establishes glycerol utilization in Saccharomyces cerevisiae CEN.PK derivatives

29. Erratum to: Discovery of two small circular ssDNA viruses associated with the whitefly Bemisia tabaci

30. A novel large fragment deletion in PLS3 causes rare X-linked early-onset osteoporosis and response to zoledronic acid

31. Colonization of the bovine uterus by Candida kefyr

32. Non-reproducible sequence artifacts in FFPE tissue: an experience report

33. Loss of NHEJ1 Protein Due to a Novel Splice Site Mutation in a Family Presenting with Combined Immunodeficiency, Microcephaly, and Growth Retardation and Literature Review

34. A novel, complex RUNX2 gene mutation causes cleidocranial dysplasia

35. The loss-of-function mutations and down-regulated expression of ASB3 gene promote the growth and metastasis of colorectal cancer cells

36. In silico analysis of the sequence features responsible for alternatively spliced introns in the model green alga Chlamydomonas reinhardtii

37. Hypoplastic Left Heart Syndrome Sequencing Reveals a Novel NOTCH1 Mutation in a Family with Single Ventricle Defects

38. Alternative outcomes of pathogenic complex somatic structural variations in the genomes of NF1 and NF2 patients

39. Detection of bacterial pathogens from clinical specimens using conventional microbial culture and 16S metagenomics: a comparative study

40. Characterization of MHC class I in a long distance migratory wader, the Icelandic black-tailed godwit

41. Novel neuro-audiological findings and further evidence for TWNK involvement in Perrault syndrome

42. A case report of novel mutation in PRF1 gene, which causes familial autosomal recessive hemophagocytic lymphohistiocytosis

43. Severe Enteropathy and Hypogammaglobulinemia Complicating Refractory Mycobacterium tuberculosis Complex Disseminated Disease in a Child with IL-12Rβ1 Deficiency

44. Early detection of multidrug- and pre-extensively drug-resistant tuberculosis from smear-positive sputum by direct sequencing

45. Mosaicism for a pathogenic MFN2 mutation causes minimal clinical features of CMT2A in the parent of a severely affected child

46. A novel vitivirus-like sequence found in Arracacia xanthorrhiza plants by high throughput sequencing

47. Identification of a novel CTCF mutation responsible for syndromic intellectual disability – a case report

48. Clinical and genetic characteristics of chinese patients with Birt-Hogg-Dubé syndrome

49. Case report: maternal mosaicism resulting in inheritance of a novel GATA6 mutation causing pancreatic agenesis and neonatal diabetes mellitus

50. Study of β-catenin and BRAF alterations in adamantinomatous and papillary craniopharyngiomas: mutation analysis with immunohistochemical correlation in 54 cases


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