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The American Journal of Human Genetics, ISSN 0002-9297, 07/2015, Volume 97, Issue 1, pp. 99 - 110
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 10/2015, Volume 167, Issue 10, pp. 2231 - 2237
De novo mutations (DNM) in SYNGAP1, encoding Ras/Rap GTPase‐activating protein SynGAP, have been reported in individuals with nonsyndromic intellectual... 
epilepsy | hypertrichosis | SYNGAP1 | strabismus | syndrome | DDD study | 6p21.3 microdeletion | behavioral phenotype | hip dysplasia | intellectual disability | Intellectual disability | Strabismus | Hip dysplasia | Epilepsy | Behavioral phenotype | Hypertrichosis | Syndrome | AUTISM | GENE | GENETICS & HEREDITY | PATIENT | Constipation - genetics | Humans | Child, Preschool | Male | Epilepsies, Myoclonic - pathology | Gait Disorders, Neurologic - genetics | Strabismus - genetics | Intellectual Disability - genetics | Muscle Hypotonia - diagnosis | Hip Dislocation - pathology | ras GTPase-Activating Proteins - genetics | Constipation - diagnosis | DNA Mutational Analysis | Epilepsies, Myoclonic - diagnosis | Strabismus - pathology | Gait Disorders, Neurologic - pathology | Female | Child | Epilepsies, Myoclonic - genetics | Gene Expression | Muscle Hypotonia - genetics | Hip Dislocation - genetics | Intellectual Disability - pathology | Strabismus - diagnosis | Constipation - pathology | Twins, Monozygotic | Gait Disorders, Neurologic - diagnosis | Haploinsufficiency | Muscle Hypotonia - pathology | Phenotype | Intellectual Disability - diagnosis | Adolescent | Heterozygote | Hip Dislocation - diagnosis | Mutation | Sleep disorders | Dysplasia | Sleep | Genetic research | Genetic aspects | Seizures (Medicine) | Twins | Neuroimaging | Phenotypes | Aggressive behavior | Gait | Intellectual disabilities | Copy number | Gene deletion | Neurodevelopmental disorders | Hip | Magnetic resonance imaging | Clonal deletion | Nose | Bone dysplasia | Constipation | Seizures | Guanosinetriphosphatase | New Syndrome
Journal Article
Ageing Research Reviews, ISSN 1568-1637, 2015, Volume 24, Issue Pt B, pp. 111 - 125
Journal Article
Journal Article
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