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European Journal of Medical Genetics, ISSN 1769-7212, 2019
Cohen syndrome is an autosomal recessive disease characterized by myopia, retinal dystrophy, neutropenia, short stature, microcephaly, persistent hypotonia,... 
Copy-number variation | VPS13B | Whole exome sequencing | Cohen syndrome
Journal Article
Neuron, ISSN 0896-6273, 01/2013, Volume 77, Issue 2, pp. 259 - 273
Journal Article
Russkij Žurnal Detskoj Nevrologii, ISSN 2073-8803, 07/2019, Volume 14, Issue 2, pp. 35 - 41
The authors presented short review of Russian and foreign literature and clinical case of the girl with a rare monogenic disease Cohen syndrome and early... 
neuro-oculocutaneous syndromes | differential diagnosis | infantile epileptic encephalopathy | Cohen syndrome
Journal Article
The Journal of cell biology, ISSN 0021-9525, 10/2018, Volume 217, Issue 10, pp. 3593 - 3607
The regulated expansion of membrane contact sites, which mediate the nonvesicular exchange of lipids between organelles, requires the recruitment of additional... 
YEAST | COHEN-SYNDROME | LOCALIZATION | PHOSPHATIDYLINOSITOL 3-PHOSPHATE | PROTEIN | CHOREA-ACANTHOCYTOSIS | REGULATORS | ER-MITOCHONDRIA | IDENTIFICATION | SACCHAROMYCES-CEREVISIAE | CELL BIOLOGY | Membranes | Yeast | Cell division | Lipids | Meiosis | Cell membranes | Cell membranes (biology) | Adaptors | Organelles | Membrane proteins | Proteins | Mitochondria | Nexin | Localization | Vacuoles | Endosomes
Journal Article
Chinese Journal of Contemporary Pediatrics, ISSN 1008-8830, 06/2018, Volume 20, Issue 6, pp. 497 - 500
Journal Article
Nature Genetics, ISSN 1061-4036, 08/2014, Volume 46, Issue 9, pp. 1021 - 1027
Journal Article
Turk Uroloji Dergisi, ISSN 1300-5804, 2015, Volume 41, Issue 1, pp. 51 - 52
Cohen syndrome is an extremely rare autosomal recessive disorder. A 12-year-old boy with Cohen syndrome applied to a primary health care center because of... 
Testicular torsion | Cohen syndrome | Orchiectomy | testicular torsion | Pediatric Urology | orchiectomy
Journal Article
Journal Article
Journal Article
Molecular Syndromology, ISSN 1661-8769, 06/2012, Volume 3, Issue 1, pp. 30 - 33
Cohen syndrome (CS) is an autosomal recessive disease caused by mutations in the COH1 gene. It is characterized by intellectual disability, hypotonia, joint... 
Short Report | COH1 | Mutation | Splicing | Cohen syndrome
Journal Article
Journal of Cell Biology, ISSN 0021-9525, 2017, Volume 216, Issue 2, pp. 425 - 439
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 10/2006, Volume 140A, Issue 19, pp. 2063 - 2074
Journal Article