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Journal of genetic counseling, ISSN 1059-7700, 6/2014, Volume 23, Issue 3, pp. 289 - 298
Journal Article
American journal of human genetics, ISSN 0002-9297, 11/2017, Volume 101, Issue 5, pp. 824 - 832
.... An overlapping neurodevelopmental phenotype, including severe intellectual disability with absent speech, epilepsy, and hypotonia was observed in all affected individuals... 
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Corpus Callosum - metabolism | White Matter - metabolism | Humans | Epilepsy - diagnostic imaging | Child, Preschool | Male | rab GTP-Binding Proteins - genetics | Guanosine Triphosphate - metabolism | Intellectual Disability - genetics | Optic Nerve Diseases - congenital | Optic Nerve Diseases - pathology | Epilepsy - genetics | Female | Guanosine Triphosphate - chemistry | Guanosine Diphosphate - chemistry | Guanosine Diphosphate - metabolism | Binding Sites | Child | rab GTP-Binding Proteins - deficiency | Amino Acid Sequence | Cerebellar Vermis - metabolism | Gene Expression | Muscle Hypotonia - genetics | Muscle Hypotonia - diagnostic imaging | Intellectual Disability - diagnostic imaging | Intellectual Disability - pathology | Models, Molecular | Optic Nerve Diseases - genetics | White Matter - pathology | Cerebellar Vermis - diagnostic imaging | Corpus Callosum - diagnostic imaging | Magnetic Resonance Imaging | Muscle Hypotonia - pathology | Phenotype | White Matter - diagnostic imaging | Optic Nerve Diseases - diagnostic imaging | Corpus Callosum - pathology | Adolescent | Protein Binding | rab GTP-Binding Proteins - chemistry | Mutation | Cerebellar Vermis - pathology | Epilepsy - pathology | Index Medicus | Report
Journal Article
Pediatrics, ISSN 0031-4005, 08/2008, Volume 122, Issue 2, pp. e376 - e382
Journal Article
Genetics in medicine, ISSN 1530-0366, 11/2016, Volume 19, Issue 6, pp. 691 - 700
Journal Article
International journal of developmental neuroscience, ISSN 1873-474X, 08/2018, Volume 68, Issue 1, pp. 83 - 88
..., obesity, short stature, intellectual disability, progressive retinal dystrophy, intermittent neutropenia... 
Rehabilitation therapy | Rare disease | Cohen syndrome | Genetic diagnosis | Neurosciences | Neurosciences & Neurology | Life Sciences & Biomedicine | Developmental Biology | Science & Technology | Microcephaly - genetics | Fingers - diagnostic imaging | Humans | Child, Preschool | Intellectual Disability - complications | Male | Developmental Disabilities - genetics | Obesity - genetics | Intellectual Disability - genetics | Developmental Disabilities - diagnostic imaging | Fingers - abnormalities | Obesity - diagnostic imaging | Myopia - diagnostic imaging | Muscle Hypotonia - complications | Myopia - complications | Microcephaly - complications | Muscle Hypotonia - genetics | Genetic Association Studies | Muscle Hypotonia - diagnostic imaging | Intellectual Disability - diagnostic imaging | Obesity - complications | Retinal Degeneration - genetics | Vesicular Transport Proteins - genetics | Microcephaly - diagnostic imaging | Mutation - genetics | Myopia - genetics | Intellectual Disability - etiology | Developmental Disabilities - complications | Retinal Degeneration - complications | Retinal Degeneration - diagnostic imaging | Genetic research | Analysis | Genes | Genetic screening | Intellectual disabilities | Medical treatment | Homology | Retina | Proteins | Literature reviews | Microencephaly | Chromosome 8 | Retinal degeneration | Genetic testing | Rehabilitation | Mutation | Dystrophy | Protein transport | Chronic illnesses | Neutropenia
Journal Article
The Cerebellum, ISSN 1473-4222, 2/2014, Volume 13, Issue 1, pp. 79 - 88
Journal Article
PloS one, ISSN 1932-6203, 08/2016, Volume 11, Issue 8, pp. e0161036 - e0161036
Journal Article