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eBook
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 | Index Medicus | New Syndrome
Journal Article
Human Brain Mapping, ISSN 1065-9471, 06/2005, Volume 25, Issue 2, pp. 222 - 236
Journal Article
PLoS ONE, ISSN 1932-6203, 07/2016, Volume 11, Issue 7, pp. e0159562 - e0159562
Journal Article
PLoS ONE, ISSN 1932-6203, 02/2012, Volume 7, Issue 2, pp. e31988 - e31988
Experiments utilizing the Looptail mutant mouse, which harbors a missense mutation in the vangl2 gene, have been essential for studies of planar polarity and... 
LOCALIZATION | INNER-EAR | NEURAL-TUBE DEFECTS | MOUSE | TAIL | BIOLOGY | VERTEBRATES | ENDOPLASMIC-RETICULUM | STRABISMUS | PLANAR POLARITY | DROSOPHILA | Cell Polarity | Hair Cells, Auditory - metabolism | Hair Cells, Auditory - pathology | Cell Proliferation | Immunoprecipitation | Saccule and Utricle - metabolism | Humans | Neural Tube - pathology | Mice, Mutant Strains | Hair Cells, Vestibular - metabolism | Neural Tube - metabolism | Hair Cells, Vestibular - pathology | Membrane Proteins - metabolism | Cell Line | Gene Targeting | Green Fluorescent Proteins - metabolism | Stereocilia - pathology | Membrane Proteins - genetics | Mice, Inbred C57BL | Saccule and Utricle - pathology | Mutation - genetics | Nerve Tissue Proteins - genetics | Subcellular Fractions - metabolism | Protein Transport | Nerve Tissue Proteins - metabolism | Carrier Proteins - genetics | Phenotype | Animals | Carrier Proteins - metabolism | Mice | Genes, Dominant - genetics | Neural Tube - abnormalities | Animal experimentation | Proteins | Genetic research | Physiological aspects | Genetic aspects | Comparative analysis | Hair | Neurosciences | Molecular interactions | Hair cells | Otolaryngology | Biology | Tissues | Cell surface | Inner ear | Mutants | Vertebrates | Missense mutation | Insects | Rodents | Surgery | Polarity | Trends | Mutation | Vestibular system | Localization | Endoplasmic reticulum | Index Medicus
Journal Article
Brain, ISSN 0006-8950, 2006, Volume 129, Issue 9, pp. 2363 - 2374
Journal Article
Indian Journal of Ophthalmology, ISSN 0301-4738, 12/2013, Volume 61, Issue 12, pp. 763 - 765
A 67-year-old former gold miner with rheumatoid arthritis, treated with steroids and methotrexate, presented to eye casualty with a painful right eye.... 
Phaeohyphomycosis | pigmented fungi | subretinal abscess | subretinal biopsy | OPHTHALMOLOGY | Phaeohyphomycosis - diagnosis | Abscess - diagnosis | Diagnosis, Differential | Eye Infections, Fungal - diagnosis | Humans | Male | Abscess - complications | Eye Infections, Fungal - complications | Arthritis, Rheumatoid - complications | Endophthalmitis - complications | Tuberculosis, Pulmonary - complications | Retina - microbiology | Phaeohyphomycosis - complications | Biopsy | Tuberculosis, Pulmonary - diagnosis | Endophthalmitis - diagnosis | Aged | Arthritis, Rheumatoid - diagnosis | Retina - pathology | Case studies | Care and treatment | Lung diseases | Physiological aspects | Mycoses | Eye diseases | Diagnosis | Joint diseases | Polymerase chain reaction | Pathology | Substance abuse treatment | Tuberculosis | Histopathology | Family medical history | Index Medicus | Brief Communication | optimizing donor tissue utilization | spectacles use | Prevalence | uncorrected refractive errors | rapid | death to enucleation time | cross-sectional studies | Bevacizumab | indo cyanine green angiography | Clinical features | death to preservation time | Clinical donor tissue grading | Coloboma of the choroid | vascular pattern | Traumatic chiasmal syndrome | drug-induced | esotropia | neurosensory retinal cells | eye bank specular microscopy | mitochondrial function | endodiathermy bipolar probe | retinal nerve fiber layer thickness | tissue culture | Biological amniotic membrane | rapid assessment of refractive errors | GDx variable corneal compensation | lutein | DCR | strabismus | subacute cutaneous lupus erythematosus | retinal vasculitis | nasolacrimal duct obstruction | pediatric aphakia | Aphakia | carotenoids | visual field | Thailand | ranibizumab | Bitemporal hemianopia | vanadium steel | retina | Amblyopia | secondary intraocular lens implantation | retinal pigment epithelial cells | visual impairment | steel suture | Children | Drug reaction | coloboma optic disc | probing | normal | complications | Duane syndrome | trabeculectomy | microvascular endothelial cells | recanalize | etiology | 5-fluorouracil | Age-related macular degeneration | Indian | inadequate capsular support | trans-scleral fixation
Journal Article