Cornelia de Lange Syndrome

Intragenic and large NIPBL rearrangements revealed by MLPA in Cornelia de Lange patients

Genetics / Adolescent / Humans / Child / Genetic Testing / Female / Male / Infant / Proteins / Gene Duplication / Human Genome / Adult / Cornelia de Lange Syndrome / Sensitivity and Specificity / Cell Cycle Proteins / Comparative Genomic Hybridization / Cohort Studies / Female / Male / Infant / Proteins / Gene Duplication / Human Genome / Adult / Cornelia de Lange Syndrome / Sensitivity and Specificity / Cell Cycle Proteins / Comparative Genomic Hybridization / Cohort Studies

Comprehensive mutational analysis of a cohort of Swedish Cornelia de Lange syndrome patients

Genetics / Adolescent / Sweden / Mental Retardation / Humans / Child / Mutation / Female / Nucleic acid hybridization / Male / Facial Features / Proteins / Phenotype / European / Congenital Anomalies / Cornelia de Lange Syndrome / Developmental delay / Upper Limb / Cell Cycle Proteins / Chromosomal Instability / Chromosomal abnormalities / Array Comparative Genomic Hybridization / Cohort Studies / Child / Mutation / Female / Nucleic acid hybridization / Male / Facial Features / Proteins / Phenotype / European / Congenital Anomalies / Cornelia de Lange Syndrome / Developmental delay / Upper Limb / Cell Cycle Proteins / Chromosomal Instability / Chromosomal abnormalities / Array Comparative Genomic Hybridization / Cohort Studies

Cornelia De Lange Syndrome: A Case Report

India / Humans / Male / Infant / Cornelia de Lange Syndrome

Cornelia de Lange syndrome. (A case report)

India / Humans / Male / Infant / Cornelia de Lange Syndrome

Intragenic and large NIPBL rearrangements revealed by MLPA in Cornelia de Lange patients

Genetics / Human Genetics / Molecular Genetics / Adolescent / Cytogenetics / Humans / Child / Genetic Testing / Female / Clinical Genetics / Male / Infant / Proteins / Gene Duplication / Human Genome / Adult / Cornelia de Lange Syndrome / Sensitivity and Specificity / Cell Cycle Proteins / Comparative Genomic Hybridization / Cohort Studies / DNA mutational analysis / Child preschool / Humans / Child / Genetic Testing / Female / Clinical Genetics / Male / Infant / Proteins / Gene Duplication / Human Genome / Adult / Cornelia de Lange Syndrome / Sensitivity and Specificity / Cell Cycle Proteins / Comparative Genomic Hybridization / Cohort Studies / DNA mutational analysis / Child preschool

Intragenic and large NIPBL rearrangements revealed by MLPA in Cornelia de Lange patients

Genetics / Human Genetics / Molecular Genetics / Adolescent / Cytogenetics / Humans / Child / Genetic Testing / Female / Clinical Genetics / Male / Infant / Proteins / Gene Duplication / Human Genome / Adult / Cornelia de Lange Syndrome / Sensitivity and Specificity / Cell Cycle Proteins / Comparative Genomic Hybridization / Cohort Studies / DNA mutational analysis / Child preschool / Humans / Child / Genetic Testing / Female / Clinical Genetics / Male / Infant / Proteins / Gene Duplication / Human Genome / Adult / Cornelia de Lange Syndrome / Sensitivity and Specificity / Cell Cycle Proteins / Comparative Genomic Hybridization / Cohort Studies / DNA mutational analysis / Child preschool

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