26 results on '"Daly, Sarah B."'
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2. Leri’s pleonosteosis, a congenital rheumatic disease, results from microduplication at 8q22.1 encompassing GDF6 and SDC2 and provides insight into systemic sclerosis pathogenesis
3. Recessive mutations in the gene encoding the tight junction protein occluding cause band-like calcification with simplified gyration and polymicrogyria
4. Mutations in HPSE2 cause urofacial syndrome
5. Protein Kinase Cδ Deficiency Causes Mendelian Systemic Lupus Erythematosus With B Cell-Defective Apoptosis and Hyperproliferation
6. Homozygous mutation inPTRH2gene causes progressive sensorineural deafness and peripheral neuropathy
7. Exome Sequencing Identifies a Dominant TNNT3 Mutation in a Large Family with Distal Arthrogryposis
8. Urinary Tract Effects of HPSE2 Mutations
9. Germline Mutations in SUFU Cause Gorlin Syndrome–Associated Childhood Medulloblastoma and Redefine the Risk Associated With PTCH1 Mutations
10. Compound Heterozygosity of Low-Frequency Promoter Deletions and Rare Loss-of-Function Mutations in TXNL4A Causes Burn-McKeown Syndrome
11. Homozygous mutation in PTRH2 gene causes progressive sensorineural deafness and peripheral neuropathy.
12. Leri’s pleonosteosis, a congenital rheumatic disease, results from microduplication at 8q22.1 encompassingGDF6andSDC2and provides insight into systemic sclerosis pathogenesis
13. Exome Sequencing Identifies a Dominant TNNT3 Mutation in a Large Family with Distal Arthrogryposis
14. Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus
15. Erratum : Mutations in PRDM5 in Brittle Cornea Syndrome Identify a Pathway Regulating Extracellular Matrix Development and Maintenance
16. LRIG2 Mutations Cause Urofacial Syndrome
17. Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus
18. Mutations in PRDM5 in Brittle Cornea Syndrome Identify a Pathway Regulating Extracellular Matrix Development and Maintenance
19. Whole-Exome Sequencing Identifies FAM20A Mutations as a Cause of Amelogenesis Imperfecta and Gingival Hyperplasia Syndrome
20. Minimal Residual Disease Monitoring by RQ-PCR in Core Binding Factor Positive AML Allows Risk-Stratification and Predicts Relapse: Results of the UK MRC AML-15 Trial.
21. Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis.
22. Gene Expression Profiling Can Identify Novel MRD Markers for AML.
23. Delineation of the minimal commonly deleted segment and identification of candidate tumor‐suppressor genes in del(9q) acute myeloid leukemia
24. Mutations in LZTR1add to the complex heterogeneity of schwannomatosis
25. Exome Sequencing Identifies a Dominant TNNT3Mutation in a Large Family with Distal Arthrogryposis
26. Minimal residual disease monitoring by quantitative RT-PCR in core binding factor AML allows risk stratification and predicts relapse: results of the United Kingdom MRC AML-15 trial.
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