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Neuron, ISSN 0896-6273, 11/2015, Volume 88, Issue 3, pp. 499 - 513
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 02/2015, Volume 125, Issue 2, pp. 636 - 651
Cornelia de Lange syndrome (CdLS) is a genetically heterogeneous disorder that presents with extensive phenotypic variability, including facial dysmorphism,... 
SISTER-CHROMATID COHESION | INDIVIDUALS | MEDICINE, RESEARCH & EXPERIMENTAL | HYPERTRICHOSIS-CUBITI | VARIANTS | GENETIC-HETEROGENEITY | ACTIVATOR PROTEIN | MUTATIONS | IDENTIFICATION | HUMAN HOMOLOG | NIPBL REARRANGEMENTS | Myeloid-Lymphoid Leukemia Protein - biosynthesis | Histone Deacetylases - biosynthesis | Chondroitin Sulfate Proteoglycans - genetics | Humans | Transcriptome | Child, Preschool | Exonucleases | Infant | Male | Gene Expression Profiling | Exome | De Lange Syndrome - metabolism | Chromosomal Proteins, Non-Histone - biosynthesis | Cell Cycle Proteins - genetics | Adult | Chondroitin Sulfate Proteoglycans - biosynthesis | Child | De Lange Syndrome - genetics | Genome-Wide Association Study | Histone Deacetylases - genetics | Histone-Lysine N-Methyltransferase | Gene Expression Regulation | Repressor Proteins - genetics | Cell Cycle Proteins - biosynthesis | Codon, Nonsense | Chromosomal Proteins, Non-Histone - genetics | Proteins - genetics | Phenotype | Proteins - metabolism | Repressor Proteins - biosynthesis | Myeloid-Lymphoid Leukemia Protein - genetics | Adolescent | Heterozygote | De Lange Syndrome - pathology | De Lange syndrome | Gene mutations | Exome sequencing | Genetic research | Development and progression | Genetic transcription | Research | Diagnosis | Identification and classification | Methods | Proteins | Studies | Genotype & phenotype | Genomics | Zebrafish | Genomes | Mutation | Chromosomes
Journal Article
Nature Genetics, ISSN 1061-4036, 08/2018, Volume 50, Issue 8, pp. 1093 - 1101
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 02/2015, Volume 125, Issue 2, pp. 636 - 636
Cornelia de Lange syndrome (CdLS) is a genetically heterogeneous disorder that presents with extensive phenotypic variability, including facial dysmorphism,... 
Journal Article
Fırat Tıp Dergisi, ISSN 1300-9818, 2009, Volume 14, Issue 4, pp. 274 - 279
Fraser sendromu, otozomal resessif kalıtım modeline sahip, nadir hastalıklardan biridir. Hastalarda sık rastlanan bulgular arasında gelişim geriliği, anormal... 
Journal Article
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