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6  1 time

Publications tagged with this subject: 35

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1. Hypomyelinating leukodystrophy associated with a deleterious mutation in the ATRN gene

2. Abnormal glycosylation in Joubert syndrome type 10

3. A novel androgen receptor mutation in a patient with complete androgen insensitivity syndrome

4. A novel COL1A2 C-propeptide cleavage site mutation causing high bone mass osteogenesis imperfecta with a regional distribution pattern

5. Severe nivolumab-induced pneumonitis preceding durable clinical remission in a patient with refractory, metastatic lung squamous cell cancer: a case report

6. Longitudinal analysis of treatment-induced genomic alterations in gliomas

7. Severe congenital microcephaly with AP4M1 mutation, a case report

8. The genomic road to invasion—examining the similarities and differences in the genomes of associated oral pre-cancer and cancer samples

9. SynthEx: a synthetic-normal-based DNA sequencing tool for copy number alteration detection and tumor heterogeneity profiling

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

11. Whole exome sequencing of an asbestos-induced wild-type murine model of malignant mesothelioma

12. Mutational profiling of acute lymphoblastic leukemia with testicular relapse

13. PIK3CA mutations are common in lobular carcinoma in situ, but are not a biomarker of progression

14. Mitochondrial DNA point mutations and relative copy number in 1363 disease and control human brains

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

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

17. Prenatal Diagnostic Exome Sequencing: a Review

18. Multiple gene variations contributed to congenital heart disease via GATA family transcriptional regulation

19. A homozygous PIGO mutation associated with severe infantile epileptic encephalopathy and corpus callosum hypoplasia, but normal alkaline phosphatase levels

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

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

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

23. Respiratory chain complex III deficiency due to mutated BCS1L: a novel phenotype with encephalomyopathy, partially phenocopied in a Bcs1l mutant mouse model

24. Myoepithelial carcinoma with RB1 mutation: remarkable chemosensitivity to carcinoma of unknown origin therapy

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

26. Lessons learned from additional research analyses of unsolved clinical exome cases

27. An example of the utility of genomic analysis for fast and accurate clinical diagnosis of complex rare phenotypes

28. Reasons for Declining Preconception Expanded Carrier Screening Using Genome Sequencing

29. Novel magnetic resonance imaging findings in a patient with short chain acyl CoA dehydrogenase deficiency

30. A no-stop mutation in MAGEB4 is a possible cause of rare X-linked azoospermia and oligozoospermia in a consanguineous Turkish family

31. Improved full-length killer cell immunoglobulin-like receptor transcript discovery in Mauritian cynomolgus macaques

32. The germline variants in DNA repair genes in pediatric medulloblastoma: a challenge for current therapeutic strategies

33. Identification and description of three families with familial Alzheimer disease that segregate variants in the SORL1 gene

34. Next-generation sequencing in familial breast cancer patients from Lebanon

35. Family studies to find rare high risk variants in migraine


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