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2007, American journal of medical genetics., Volume 145C, no. 4., 323-398
Book
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, ISSN 1552-4868, 12/2014, Volume 166, Issue 4, pp. 406 - 413
Journal Article
Nature Medicine, ISSN 1078-8956, 03/2019, Volume 25, Issue 3, pp. 361 - 362
Non-invasive prenatal diagnostics allow for the successful identification of paternally inherited and de novo mongenic diseases using circulating cell-free DNA. 
MEDICINE, RESEARCH & EXPERIMENTAL | ANEUPLOIDY | DNA | BIOCHEMISTRY & MOLECULAR BIOLOGY | CELL BIOLOGY | Medical colleges | Care and treatment | Genetic disorders | Pregnant women | Analysis | Research | Health aspects | Deoxyribonucleic acid--DNA
Journal Article
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, ISSN 1552-4868, 06/2016, Volume 172, Issue 2, pp. i - i
The cover, by Ian D. Krantz, features a composite image from several of his articles including the Introduction Dr. Laird G. Jackson Festschrift, DOI:... 
Journal Article
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, ISSN 1552-4868, 12/2014, Volume 166, Issue 4, pp. 406 - 413
Pallister-Killian syndrome (PKS) is characterized by craniofacial dysmorphism, pigmentary skin anomalies, congenital heart defects, congenital diaphragmatic... 
chromosome 12p | Pallister–Killian syndrome | Pallister-Killian syndrome | Chromosome 12p | PARENTAL ORIGIN | INVERTED DUPLICATED MARKER | INDIVIDUALS | TETRALOGY | MOSAIC TETRASOMY 12P | PRENATAL SAMPLES | GENETICS & HEREDITY | ISOCHROMOSOME 12P | SUPERNUMERARY MARKER CHROMOSOMES | MUTATIONS | MANIFESTATIONS | Hernia | Development and progression | Genetic disorders
Journal Article
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, ISSN 1552-4868, 06/2016, Volume 172, Issue 2, pp. 128 - 128
Journal Article
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, ISSN 1552-4868, 06/2016, Volume 172, Issue 2, p. 71
Journal Article
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, ISSN 1552-4868, 06/2016, Volume 172, Issue 2, pp. 117 - 117
Journal Article
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, ISSN 1552-4868, 06/2016, Volume 172, Issue 2, pp. 86 - 86
Journal Article
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, ISSN 1552-4868, 06/2016, Volume 172, Issue 2, pp. 109 - 116
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 05/2010, Volume 86, Issue 5, pp. 749 - 764
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 2006, Volume 79, Issue 1, pp. 169 - 173
Alagille syndrome (AGS) is caused by mutations in the gene for the Notch signaling pathway ligand Jagged1 ( ), which are found in 94% of patients. To identify... 
HEART | DEFECTS | GENE | ARTERIOHEPATIC DYSPLASIA | GENETICS & HEREDITY | RECEPTOR | LIGAND | EXPRESSION | HUMAN JAGGED1 | Alagille Syndrome - genetics | Signal Transduction | Pedigree | Humans | Receptor, Notch2 - metabolism | Female | Male | Receptor, Notch2 - genetics | Mutation | Genetic aspects | Diagnosis | Research | Gene mutations | Alagille syndrome | Report
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 | 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