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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
Human Molecular Genetics, ISSN 0964-6906, 10/2015, Volume 24, Issue 19, pp. 5378 - 5387
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 10/2015, Volume 24, Issue 19, pp. 5378 - 5387
Journal Article
Gene, ISSN 0378-1119, 06/2015, Volume 563, Issue 2, pp. 215 - 218
Usher syndrome is a clinically and genetically heterogeneous autosomal recessive inherited disorder accompanied by hearing loss and retinitis pigmentosa (RP).... 
Whole exome sequencing | USH2A | Usher syndrome | SPANISH PATIENTS | USH2A MUTATIONS | PROTEIN | GENE | GENETICS & HEREDITY | IDENTIFICATION | RETINITIS-PIGMENTOSA | Hearing Loss - genetics | Usher Syndromes - genetics | Humans | Retinitis Pigmentosa - genetics | Heterozygote | Male | Mutation | Genome-Wide Association Study - methods | Child
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 05/2016, Volume 170, Issue 5, pp. 1187 - 1195
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
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