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Human Molecular Genetics, ISSN 0964-6906, 2015, Volume 24, Issue 22, pp. 6540 - 6551
Down syndrome (DS), caused by trisomy 21, is the most common chromosomal disorder associated with developmental cognitive deficits. Despite intensive efforts,... 
CHROMOSOME | PROTEIN | BIOCHEMISTRY & MOLECULAR BIOLOGY | EMBRYONIC STEM-CELLS | MOUSE MODEL | GENETICS & HEREDITY | DYRK1A | MICE | LONG-TERM POTENTIATION | SYNDROME PHENOTYPES | EXPRESSION | BRAIN | Chromosome Deletion | Sequence Deletion | Animals | Genetic Association Studies | Mice, Mutant Strains | Humans | Down Syndrome - genetics | Cognition Disorders - genetics | Mice | Disease Models, Animal
Journal Article
Journal Article
Journal Article
Journal of Autism and Developmental Disorders, ISSN 0162-3257, 7/2012, Volume 42, Issue 7, pp. 1459 - 1469
Journal Article
SCIENTIFIC REPORTS, ISSN 2045-2322, 02/2016, Volume 6
Prader-Willi syndrome (PWS) is a neurogenetic disorder caused by loss of paternally expressed genes on chromosome 15q11-q13. The PWS-critical region (PWScr)... 
REAL-TIME PCR | HYPERPHAGIA | SMALL NUCLEOLAR RNAS | MULTIDISCIPLINARY SCIENCES | SNORNA SNORD116 | UBE3A | CLUSTER | EXPRESSION | PRADER-WILLI-SYNDROME | MOUSE MODELS | DELETION
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 2003, Volume 72, Issue 3, pp. 590 - 597
In an attempt to define the distinctive Wolf-Hirschhorn syndrome (WHS) phenotype, and to map its specific clinical manifestations, a total of eight patients... 
MICRODELETION | GENE | GENETICS & HEREDITY | DUPLICATION | 4P16.3 | MAP | ROGERS-DANKS-SYNDROME | DELETION | Sequence Deletion | Humans | Genotype | Infant | Male | Chromosome Mapping | Gestational Age | Chromosomes, Human, Pair 4 | Syndrome | Proteins - genetics | Transcriptional Elongation Factors | Phenotype | Female | Child | Abnormalities, Multiple - genetics | Infant, Newborn | Physiological aspects | Chromosome deletion
Journal Article