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American Journal of Medical Genetics Part A, ISSN 1552-4825, 04/2019, Volume 179, Issue 4, pp. 588 - 594
Overgrowth‐intellectual disability (OGID) syndromes are characterized by increased growth (height and/or head circumference ≥+2  SD ) in association with an... 
Weaver | Cohen‐Gibson | EED | overgrowth | intellectual disability | EZH2 | Cohen-Gibson | HISTONE METHYLTRANSFERASE ACTIVITY | OVERGROWTH SYNDROME | COMPLEX | GENES | GENETICS & HEREDITY | PATIENT | MUTATIONS | Medicine, Experimental | Medical research | Spine (cervical) | Cryptorchidism | Phenotypes | Intellectual disabilities
Journal Article
BMC Genomics, ISSN 1471-2164, 05/2011, Volume 12, Issue 1, pp. 258 - 258
Background: Trapped Neutrophil Syndrome (TNS) is a common autosomal recessive neutropenia in Border collie dogs. Results: We used a candidate gene approach and... 
Trapped neutrophil syndrome | Expression | Vesicle protein sorting 13 b | VPS13B | Dog | Cohen syndrome | Vesicle transport | Neutropenia | expression | PROTEIN | MUTATIONAL SPECTRUM | vesicle protein sorting 13 B | neutropenia | vesicle transport | NATURAL-HISTORY | FEATURES | HETEROGENEITY | Cohen Syndrome | BORDER COLLIES | GENE | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | Trapped Neutrophil Syndrome | GENETICS & HEREDITY | LINKAGE ANALYSIS | dog | Microcephaly - genetics | Neutropenia - veterinary | Humans | Molecular Sequence Data | Developmental Disabilities - genetics | Fingers - physiopathology | Obesity - genetics | Intellectual Disability - genetics | Dog Diseases - physiopathology | Base Sequence | Microcephaly - physiopathology | Fingers - abnormalities | Neutropenia - genetics | Disease Models, Animal | Genetic Linkage | Amino Acid Sequence | Developmental Disabilities - physiopathology | Muscle Hypotonia - genetics | Vesicular Transport Proteins - genetics | Dog Diseases - genetics | Exons - genetics | Genotype | Obesity - physiopathology | Vesicular Transport Proteins - chemistry | Syndrome | Intellectual Disability - physiopathology | Myopia - genetics | Animals | Muscle Hypotonia - physiopathology | Myopia - physiopathology | Dogs | Mice | Sequence Analysis | Neutropenia - physiopathology | Gene mutations | Neutrophilia | Genetic aspects | Research | Health aspects | Risk factors | Index Medicus
Journal Article
Journal Article
PLoS Genetics, ISSN 1553-7390, 12/2014, Volume 10, Issue 12, pp. e1004729 - e1004729
Journal Article
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 10/2006, Volume 140A, Issue 19, pp. 2063 - 2074
Journal Article
Journal of Biological Chemistry, ISSN 0021-9258, 10/2011, Volume 286, Issue 43, pp. 37665 - 37675
Journal Article
Ophthalmic Genetics, ISSN 1381-6810, 05/2018, Volume 39, Issue 3, pp. 399 - 404
Purpose: To describe early structural and functional retinal changes in a patient with Cohen syndrome. Methods: A 13-month-old Caucasian girl of Irish and... 
VPS13B | retinal degeneration | retinoschisis | COH1 | Cohen syndrome | OPTICAL COHERENCE TOMOGRAPHY | PHENOTYPE | TRAFFICKING | GOLGI | NATURAL-HISTORY | GENE | DYSTROPHY | GENETICS & HEREDITY | OPHTHALMOLOGY | SYNDROME-ASSOCIATED PROTEIN | MUTATIONS | RETINITIS-PIGMENTOSA | Index Medicus
Journal Article
International Journal of Developmental Neuroscience, ISSN 0736-5748, 08/2018, Volume 68, pp. 83 - 88
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 07/2013, Volume 21, Issue 7, pp. 736 - 742