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Publications by R Pop
Screening of the 1 Mb SOX9 5' Control Region by Array CGH Identifies a Large Deletion in a Case of Campomelic Dysplasia With XY Sex Reversal
Journal of Medical Genetics
Genetics
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Campomelic Dysplasia With Dextrocardia and Without Sex-Reversal
Archive of Clinical Cases
Human Sex Reversal Is Caused by Duplication or Deletion of Core Enhancers Upstream of SOX9
Nature Communications
Astronomy
Genetics
Molecular Biology
Biochemistry
Chemistry
Physics
Fine Mapping of Chromosome 17 Translocation Breakpoints ⩾900 Kb Upstream of SOX9 in Acampomelic Campomelic Dysplasia and a Mild, Familial Skeletal Dysplasia
American Journal of Human Genetics
Genetics
Combined 22q11.1-Q11.21 Deletion With 15q11.2-Q13.3 Duplication Identified by Array-CGH in a 6 Years Old Boy
Molecular Cytogenetics
Biochemistry
Molecular Medicine
Genetics
Molecular Biology
FISH Mapping of the Sex-Reversal Region on Human Chromosome 9p in Two XY Females and in Primates
European Journal of Human Genetics
Genetics
MEF2C-Related 5q14.3 Microdeletion Syndrome Detected by Array CGH: A Case Report
Annals of Rehabilitation Medicine
Rehabilitation
Investigation of Mutations in the SRY, SOX9, and DAX1 Genes in Sex Reversal Patients From the Sichuan Region of China
Genetics and Molecular Research
Medicine
Genetics
Molecular Biology
Clinical and Molecular Characterization of a Patient With a Combination of a Deletion and a Duplication of 22q13 Using Array CGH
The Application of Clinical Genetics
Genetics
Peritoneal Mesothelioma With Residential Asbestos Exposure. Report of a Case With Long Survival (Seventeen Years) Analyzed by CGH-Array
International Journal of Molecular Sciences
Organic Chemistry
Molecular Biology
Theoretical Chemistry
Inorganic Chemistry
Computer Science Applications
Spectroscopy
Medicine
Catalysis
Physical
