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Human Mutation, ISSN 1059-7794, 06/2010, Volume 31, Issue 6, pp. 722 - 733
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 08/2016, Volume 53, Issue 8, pp. 511 - 522
ObjectiveWe aimed to delineate the neurodevelopmental spectrum associated with SYNGAP1 mutations and to investigate genotype–phenotype correlations.MethodsWe... 
NMDA RECEPTOR | AUTISM | SEIZURES | DE-NOVO MUTATIONS | MENTAL-RETARDATION | SPEECH IMPAIRMENT | GENETICS & HEREDITY | SYNGAP1 CAUSE | GTPASE-ACTIVATING PROTEIN | SYNAPTIC PLASTICITY | HAPLOINSUFFICIENCY | Care and treatment | Epilepsy | Genetics | Nervous system | Degeneration | Research | Mental retardation | Patients | Health aspects | Life Sciences | Neurons and Cognition
Journal Article
Journal Article
Journal of Vocational Behavior, ISSN 0001-8791, 12/2013, Volume 83, Issue 3, pp. 295 - 304
Career adapt-ability has recently gained momentum as a psychosocial construct that not only has much to offer the field of career development, but also... 
Career adapt-ability | Mediator | Orientations to happiness | Work stress | PSYCHOMETRIC PROPERTIES | VOCATIONAL IDENTITY | COUNTRIES | MODELS | PSYCHOLOGY, APPLIED | ADAPTABILITY | POSITIVE PSYCHOLOGY | Job stress | Analysis
Journal Article
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 06/2012, Volume 90, Issue 6, pp. 1014 - 1027
Journal Article
PL o S Genetics (Online), ISSN 1553-7390, 03/2017, Volume 13, Issue 3, p. e1006683
textabstractSchinzel-Giedion syndrome (SGS) is a rare developmental disorder characterized by multiple malformations, severe neurological alterations and... 
ASXL1 | TRANSFORMATION | RECURRENT | ABNORMALITIES | DISTINCT | GENETICS & HEREDITY | JUVENILE MYELOMONOCYTIC LEUKEMIA | CANCER-RISK | CSF3R T618I | MYELODYSPLASTIC SYNDROME | CHRONIC MYELOID-LEUKEMIA | Abnormalities, Multiple - metabolism | Abnormalities, Multiple - pathology | Humans | Child, Preschool | Infant | Male | Gene Expression Profiling | Hematologic Neoplasms - pathology | Nails, Malformed - pathology | Intellectual Disability - genetics | Intellectual Disability - metabolism | Cell Transformation, Neoplastic - genetics | HEK293 Cells | Hand Deformities, Congenital - metabolism | Germ-Line Mutation | Craniofacial Abnormalities - pathology | Female | Nuclear Proteins - genetics | Child | Craniofacial Abnormalities - metabolism | Abnormalities, Multiple - genetics | Craniofacial Abnormalities - genetics | Hematologic Neoplasms - metabolism | Infant, Newborn | Cell Line | Cell Proliferation - genetics | Genetic Predisposition to Disease - genetics | Genetic Association Studies | Nails, Malformed - metabolism | Intellectual Disability - pathology | Nuclear Proteins - metabolism | Blotting, Western | Nails, Malformed - genetics | Carrier Proteins - genetics | Phenotype | Carrier Proteins - metabolism | Hand Deformities, Congenital - genetics | Hematologic Neoplasms - genetics | Mutation | Hand Deformities, Congenital - pathology | Cell proliferation | Genetic aspects | Research | Gene mutations | Schinzel-Giedion syndrome | Leukemia | Health sciences | Pediatrics | Neurosciences | Laboratories | Hot spots | Genomics | Genomes | Malignancy | Clustering | Patients | Incidence | Children & youth | Medicine | Pathology | Hospitals | Language | Genetics | Life sciences | In vitro methods and tests | Cancer
Journal Article
BMC MEDICAL GENETICS, ISSN 1471-2350, 11/2014, Volume 15, Issue 1, pp. 127 - 127
Background: Floating-Harbor syndrome is a rare autosomal dominant short stature syndrome with retarded speech development, intellectual disability and... 
Short stature | Floating-Harbor syndrome | SRCAP | Growth hormone therapy | GENETICS & HEREDITY | Somatotropin | Fluorides | Gene mutations | Analysis
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 11/2015, Volume 167, Issue 11, pp. 2826 - 2829
Journal Article