Detection of Gene Amplification by Multiplex Ligation-Dependent Probe Amplification in Comparison with In Situ Hybridization and Immunohistochemistry

Taba ,  estani ,  Sanaz 외 5명

Asian Pacific journal of cancer prevention : APJCP

2015 .01

Multiplex Ligation-Dependent Probe Amplification in X-linked Recessive Muscular Dystrophy in Korean Subjects

서미리 ,  강성웅 ,  이경아 외 3명

Yonsei Medical Journal

2017 .01

Frequency and Clinical Characteristics of Intrachromosomal Amplification of Chromosome 21 in Korean Childhood B-lineage Acute Lymphoblastic Leukemia

Saeam Shin ,  SeungTaeLee

Annals of Laboratory Medicine

2016 .01

Diagnostic Effectiveness of Copy Number Variation Detection Using Multiplex Ligation-Dependent Probe Amplification in Patients with Lynch Syndrome-Related Cancer

Do-Hoon Kim

Journal of Laboratory Medicine And Quality Assurance

2023 .06

Multiplex Ligation-dependent Probe Amplification Analysis Subsequent to Direct DNA Full Sequencing for Identifying ATP7B Mutations and Phenotype Correlations in Children with Wilson Disease

심정옥 ,  양혜란 ,  문진수 외 4명

Journal of Korean Medical Science

2018 .01

Duchenne Muscular Dystrophy and Becker Muscular Dystrophy Confirmed by Multiplex Ligation-Dependent Probe Amplification: Genotype-Phenotype Correlation in a Large Cohort

Seena Vengalil ,  Vee ,  amani P 외 16명

Journal of Clinical Neurology

2017 .01

Three Cases of False-positive Multiplex Ligation-dependent Probe Amplification of BRCA1

Kim Kyoung Bo ,  Pa ,  k Sunggyun 외 3명

Annals of Laboratory Medicine

2022 .07

Clinical Utility of Methylation-Specific Multiplex Ligation-Dependent Probe Amplification for the Diagnosis of Prader–Willi Syndrome and Angelman Syndrome

Kim Bo ,  am ,  Pa 외 8명

Annals of Laboratory Medicine

2022 .01

Molecular Genetics of von Willebrand Disease in Korean Patients: Novel Variants and Limited Diagnostic Utility of Multiplex Ligation-Dependent Probe Amplification Analyses

김희정 ,  김순기 ,  유기영 외 5명

Annals of Laboratory Medicine

2019 .01

CYP21A2 Mutation Analysis in Korean Patients With Congenital Adrenal Hyperplasia Using Complementary Methods: Sequencing After Long-Range PCR and Restriction Fragment Length Polymorphism Analysis With Multiple Ligation-Dependent Probe Amplification Assay

홍지혜 ,  박형두 ,  최리화 외 6명

Annals of Laboratory Medicine

2015 .01

조선시대 미라를 대상으로 한 유전자 분석과 전망

오창석 ,  김명주 ,  홍종하 외 3명

대한체질인류학회 학술대회 연제 초록

2022 .05

Diagnosis of Smith-Magenis Syndrome in a Patient with Mental Retardation and Sleep Disturbance Confirmed by Multiplex Ligation-dependent Probe Amplification

오주원 ,  이승재 ,  이경아 외 1명

Laboratory Medicine Online

2018 .01

Application of Multiplex Ligation-Dependent Probe Amplification Assay for Genotyping Major Blood Group Systems Including DEL Variants in the D-Negative Korean Population

김반석 ,  이승태 ,  김신영 외 2명

Annals of Laboratory Medicine

2018 .01

A Case of Pseudohypoparathyroidism Type Ib Caused by Aberrant Methylation in the GNAS Complex Locus

조성진 ,  한은희 ,  장우리 외 6명

Laboratory Medicine Online

2017 .01

한국인 신경섬유종증 1형 환자에서 관찰된 NF1 유전자 변이 분포

강현혜 ,  이재웅 ,  박준홍 외 4명

Laboratory Medicine Online

2021 .01

Langer–Giedion Syndrome with 8q23.1–q24.13 Deletion by Complex Three-way Translocation

민성희 ,  서을주 ,  설창안 외 3명

Laboratory Medicine Online

2018 .01

Clinical and Genetic Characterization of Female Dystrophinopathy

이경아 ,  이정화 ,  최영철 외 1명

Journal of Clinical Neurology

2015 .01

Identification of Potocki-Lupski syndrome in patients with developmental delay and growth failure

Jun ,  Sujin ,  Lee 외 14명

Journal of genetic medicine

2019 .01

Routine Chromosomal Microarray Analysis is Necessary in Korean Patients With Unexplained Developmental Delay/Mental Retardation/Autism Spectrum Disorder

이경아 ,  정세리 ,  유나 외 2명

Annals of Laboratory Medicine

2015 .01

Prenatal diagnosis of the isodicentric chromosome 22 associated with cat eye syndrome by multiplex ligation-dependent probe amplification

Pa ,  k ,  Sang Hee 외 17명

Journal of genetic medicine

2017 .01