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Keyword [Multiplex ligation-dependent probe amplification]
Result: 1 - 20 | Page: 1 of 3
1. The Prevalence Of BRCA1 And BRCA2 Germline Mutations In High-Risk Breast Cancer Patients Of Chinese Han Nationality
2. Study On The Germline Mutation Of HMSH6 Gene, Large Genomic Deletions Of Mismatch Repair Genes And The Methylation Of The HMLH1 Promoter In Hereditary Nonpolyposis Colorectal Cancer Families
3. The Study Of Copy Number Variation, KCNJ10 Gene Screening And Expression In Patients With Non-syndromic Enlarged Vestibular Aqueduct
4. MLPA Coupled With DHPLC For Rapid Mutation Detection Of The Causative Gene In DMD
5. Novel Methodology For Molecular Diagnosis Of Spinal Muscular Atrophy
6. Rapid Prenatal Diagnosis Of Chromosomal Aneuploidy Using Real-time Multiplex Ligation-dependent Probe Amplification (Real-time MLPA)
7. The Study On BRCA1 Genome Mutation And Rearrangement In Breast Cancer Patients
8. Gene Mutation Analysis Of Duchenne Muscular Dystrophy And Tuberous Sclerosis Complex
9. The Research On Gene Mutation Analysis Of SPG4 And SPG3A In Hereditary Spastic Paraplegia Patients
10. Development Of A Dural-color Multiplex Ligation Dependent Probe Amplification And Its Application In Diagnosis Of Spinocerebellar Ataxia
11. Frequency Of Chromosome 22q11.2 Microdeletion In Sporadic Non-syndromic Conotruncal Heart Defects By Multiplex Ligation-dependent Probe Amplification
12. Study On The Dystrophin Gene Of Duchenne/becker Muscular Dystrophy Patients And Carriers Applying MLPA
13. Gene Diagnosis Of DMD And SMA By Multiplex Ligation-dependent Probe Amplification Combined With DNA/cDNA Sequencing
14. Gene Diagnosis Of Dmd And Sma By Multiplex Ligation-dependent Probe Amplification Combined With Dna/cdna Sequencing
15. MLPA Technique In The Application Of SCN1A Gene Research In Children With Fever Releated Seizures
16. Establishing A Rapid Diagnosis Techniuque For Chromosomes Aneuploidies By Using Multiplex Ligation-Dependent Probe Amplification-Based Real-Time PCR
17. Molecular Diagnosis Of α-thalassemia And Noninvasive Prenatal Detection Of Fetal Trisomy 21
18. Mutation Analysis Of PAH Gene In Patients With PKU And Prenatal Diagnosis In Han Population From Northern China
19. Application Of MLPA In Detection Of Chromosome Abnormalities Of Myelodysplastic Syndromes Long-term Outcome Of Thalidomide And Cyclosporine InPatients With IPSS Low/intermediate-1 MyelodysplasticSyndrome
20. Investigation On Gene Mutations And Clinical Features Of Marfan Syndrome Among Han Population
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