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Publications tagged with this subject: 22

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

2. Genome-wide enrichment of damaging de novo variants in patients with isolated and complex congenital diaphragmatic hernia

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

4. Multilevel genomics of colorectal cancers with microsatellite instability—clinical impact of JAK1 mutations and consensus molecular subtype 1

5. Monoallelic characteristic-bearing heterozygous L1053X in BRCA2 gene among Sudanese women with breast cancer

6. DNA polymerase kappa protects human cells against MMC-induced genotoxicity through error-free translesion DNA synthesis

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

8. A novel homozygous frameshift variant in the MCPH1 gene causes primary microcephaly in a consanguineous Saudi family

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

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

11. Plant genome editing with TALEN and CRISPR

12. Whole-Exome Sequencing Identifies a Novel Homozygous Frameshift Mutation in the MTMR2 Gene as a Causative Mutation in a Patient with Charcot-Marie-Tooth Disease Type 4B1

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

14. Gene expression patterns of chicken neuregulin 3 in association with copy number variation and frameshift deletion

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

16. Gene mutation spectrum and genotype-phenotype correlation in a cohort of Chinese osteogenesis imperfecta patients revealed by targeted next generation sequencing

17. Novel phenotypes of pyridox(am)ine-5’-phosphate oxidase deficiency and high prevalence of c.445_448del mutation in Chinese patients

18. New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report

19. Identification of somatic mutations using whole-exome sequencing in Korean patients with acute myeloid leukemia

20. Molecular genetic analysis of consanguineous families with primary microcephaly identified pathogenic variants in the ASPM gene

21. A novel frameshift mutation in the XPC gene in a Moroccan patient: a case report

22. Myeloid neoplasms with germline DDX41 mutation


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