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nipbl (184) 184
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genetics & heredity (113) 113
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Journal Article
Chinese Journal of Medical Genetics, ISSN 1003-9406, 08/2018, Volume 35, Issue 4, pp. 493 - 497
Journal Article
Virology, ISSN 0042-6822, 12/2017, Volume 512, pp. 25 - 33
Establishment of Kaposi’s sarcoma-associated herpesvirus (KSHV) latency following infection is a multistep process, during which polycomb proteins are... 
de novo infection | NIPBL | cohesin | viral latency | KSHV | herpesvirus | polycomb proteins | CTCF | chromatin | lytic gene expression
Journal Article
Chinese Journal of Contemporary Pediatrics, ISSN 1008-8830, 05/2019, Volume 21, Issue 5, pp. 485 - 490
Journal Article
Pediatric and Developmental Pathology, ISSN 1093-5266, 2019, pp. 1093526619834429 - 1093526619834429
Classical Cornelia de Lange syndrome (CdLS) is a rare genetic disorder which is associated with distinctive facial features, growth retardation, significant... 
“horseshoe” adrenal gland | Cornelia de Lange syndrome | NIPBL | prenatal diagnosis | postmortem | novel pathogenic variant
Journal Article
JOURNAL OF PEDIATRICS, ISSN 0022-3476, 11/2013, Volume 163, Issue 5, pp. 1395 - 1395
Journal Article
Nature, ISSN 0028-0836, 04/2017, Volume 544, Issue 7651, pp. 503 - 507
Journal Article
Chinese Journal of Medical Genetics, ISSN 1003-9406, 08/2018, Volume 35, Issue 4, pp. 557 - 560
Journal Article
Frontiers in Genetics, ISSN 1664-8021, 07/2018, Volume 9, pp. 255 - 255
Cornelia de Lange Syndrome (CdLS) is a well described multiple malformation syndrome caused by alterations in genes encoding subunits or regulators of the... 
Deep sequencing | Cornelia de Lange syndrome | Family case | Mosaic variant | CdLS | NIPBL gene | NIPPED-B | mosaic variant | VARIANTS | HOMOLOG | SOMATIC MOSAICISM | family case | NIPBL | deep sequencing | GENETICS & HEREDITY | MUTATIONS | SPECTRUM | De Lange syndrome | Usage | Genetic variation | Mosaicism | Genetic aspects | Research | Nucleotide sequencing | Gene expression | DNA sequencing
Journal Article
Nature, ISSN 0028-0836, 09/2012, Volume 489, Issue 7415, pp. 313 - 317
Cornelia de Lange syndrome (CdLS) is a dominantly inherited congenital malformation disorder, caused by mutations in the cohesin-loading protein NIPBL1,2 for... 
SISTER-CHROMATID COHESION | NIPPED-B | COMPLEX | NIPBL | HUMAN GENOME | RNA-SEQ | MULTIDISCIPLINARY SCIENCES | X-CHROMOSOME-INACTIVATION | S-PHASE | PROTEINS | BINDING | Chromatin - metabolism | Chondroitin Sulfate Proteoglycans - chemistry | Humans | Crystallography, X-Ray | Male | Phosphoproteins - metabolism | Cell Cycle Proteins - chemistry | Chromatin Immunoprecipitation | Repressor Proteins - deficiency | De Lange Syndrome - metabolism | Fibroblasts | Female | Transcription, Genetic | Acetylation | Binding Sites | Repressor Proteins - metabolism | De Lange Syndrome - genetics | Repressor Proteins - chemistry | Chromosomal Proteins, Non-Histone - metabolism | Histone Deacetylases - genetics | Cell Cycle Proteins - metabolism | Chondroitin Sulfate Proteoglycans - metabolism | Histone Deacetylases - chemistry | Histone Deacetylases - deficiency | Mutant Proteins - genetics | Prophase | Models, Molecular | Repressor Proteins - genetics | Histone Deacetylases - metabolism | Mutant Proteins - metabolism | Nuclear Proteins - metabolism | Mutation - genetics | Proteins - genetics | Mutant Proteins - chemistry | Protein Conformation | HeLa Cells | Adaptor Proteins, Signal Transducing - metabolism | Anaphase | Chromatin - genetics | Chromosomal Proteins, Non-Histone - chemistry | Genetics | De Lange syndrome | Genetic aspects | Research | Mutation (Biology) | Proteins | Cell culture | Genes | Cell cycle | Mutation | Females | Chromosomes | Crystal structure | Index Medicus | Chromatin | Repressor Proteins | Life Sciences | Phosphoproteins | Chromosomal Proteins, Non-Histone | Histone Deacetylases | De Lange Syndrome | Chondroitin Sulfate Proteoglycans | Nuclear Proteins | Mutant Proteins | Adaptor Proteins, Signal Transducing | Development Biology | Cell Cycle Proteins
Journal Article
Chinese Journal of Contemporary Pediatrics, ISSN 1008-8830, 05/2018, Volume 20, Issue 5, pp. 387 - 391
Journal Article
Cell, ISSN 0092-8674, 05/2018, Volume 173, Issue 5, pp. 1165 - 1178.e20
Journal Article
Journal Article
Journal of Human Genetics, ISSN 1434-5161, 03/2018, Volume 63, Issue 3, pp. 349 - 356
Cornelia de Lange syndrome (CdLS) is a rare neurodevelopmental syndrome for which mutations in five causative genes that encode (SMC1A, SMC3, RAD21) or... 
MILD | MUTATIONS CAUSE | NIPBL | MECHANISM | GENOMIC DISORDERS | DNA | GENETICS & HEREDITY | SPECTRUM | REARRANGEMENTS | VARIANT | MOSAICISM
Journal Article