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The American Journal of Human Genetics, ISSN 0002-9297, 11/2017, Volume 101, Issue 5, pp. 833 - 843
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 06/2012, Volume 90, Issue 6, pp. 1094 - 1101
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 07/2015, Volume 97, Issue 1, pp. 99 - 110
Ablepharon macrostomia syndrome (AMS) and Barber-Say syndrome (BSS) are rare congenital ectodermal dysplasias characterized by similar clinical features. To... 
EPITHELIAL-MESENCHYMAL TRANSITION | FAMILIAL OCCURRENCE | SETLEIS SYNDROME | UNDIAGNOSED DISEASES | GENETICS & HEREDITY | MORPHOLOGY STANDARD TERMINOLOGY | SAETHRE-CHOTZEN SYNDROME | FRAMESHIFT MUTATION | ATROPHIC SKIN | TRANSCRIPTION FACTOR | AUTOSOMAL-DOMINANT INHERITANCE | Abnormalities, Multiple - pathology | Humans | Molecular Sequence Data | Hirsutism - pathology | Mutation, Missense - genetics | Chromatin Immunoprecipitation | Base Sequence | Hypertrichosis - pathology | Skin Abnormalities - pathology | Abnormalities, Multiple - genetics | Eyelid Diseases - genetics | Twist-Related Protein 1 - chemistry | Amino Acid Sequence | Eyelid Diseases - pathology | Repressor Proteins - chemistry | Hirsutism - genetics | Macrostomia - pathology | Hypertelorism - genetics | Models, Molecular | Repressor Proteins - genetics | Zebrafish | Hypertelorism - pathology | Macrostomia - genetics | Eye Abnormalities - genetics | Microscopy, Electron | Sequence Analysis, DNA | Exome - genetics | Phenotype | Animals | Hypertrichosis - genetics | Eye Abnormalities - pathology | Twist-Related Protein 1 - genetics | Protein Conformation | Skin Abnormalities - genetics | HeLa Cells | Physiological aspects | Genetic disorders | Gene mutations | Identification and classification | Genotype & phenotype | Correlation analysis | Amino acids | Mutation | Deoxyribonucleic acid--DNA | Index Medicus
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 08/2012, Volume 91, Issue 2, pp. 358 - 364
Journal Article
Nature Genetics, ISSN 1061-4036, 2012, Volume 44, Issue 7, pp. 793 - 796
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 12/2014, Volume 52, Issue 2, pp. 85 - 94
Journal Article
PLoS Genetics, ISSN 1553-7390, 2014, Volume 10, Issue 5, pp. e1004333 - e1004333
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 | Index Medicus | Abridged Index Medicus
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