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European Journal of Medical Genetics, ISSN 1769-7212, 2019
A small heterozygous deletion involving KANK1 was originally reported in 2005 to cause cerebral palsy in one large Israeli family of Jewish Moroccan origin.... 
Cerebral palsy | KANK1 | Intellectual disability | Chromosome abnormality | Chromosomal microarray | Developmental delay | Autism spectrum disorder
Journal Article
Journal Article
Journal of Pediatric Endocrinology and Metabolism, ISSN 0334-018X, 01/2019, Volume 32, Issue 1, pp. 95 - 99
Background: The genetic causes of abnormal pituitary development have been extensively studied in the last few years. ROBO1 is involved in neurogenesis and... 
pituitary stalk duplication | pituitary gland development | Roundabout receptor 1 | PEDIATRICS | ENDOCRINOLOGY & METABOLISM
Journal Article
The EMBO Journal, ISSN 0261-4189, 12/2018, Volume 37, Issue 23, p. n/a
Journal Article
PLoS ONE, ISSN 1932-6203, 06/2013, Volume 8, Issue 6, pp. e66048 - e66048
Journal Article
Molecular Cytogenetics, ISSN 1755-8166, 05/2014, Volume 7, Issue 1, pp. 31 - 31
We report on a 9-years-old patient with mild intellectual disability, facial dimorphisms, bilateral semicircular canal dysplasia, periventricular nodular... 
Semicircular canal dysplasia | Spinal cord | 22q11.2 deletion | 15q duplication | Pilocytic astrocytoma | DIGEORGE-SYNDROME | GENOMIC DISORDERS | MUTATION | GENETICS & HEREDITY | CANCER | DELETION SYNDROME
Journal Article
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 03/2015, Volume 167, Issue 3, pp. 537 - 544
Journal Article
Cytogenetic and Genome Research, ISSN 1424-8581, 2018, Volume 156, Issue 1, pp. 14 - 21
ULK4 and BRWD3 deletions have been identified in patients with developmental/language delay and intellectual disability. Both genes play pivotal roles in brain... 
Array-CGH | Microdeletion | ULK4 gene | BRWD3 gene | Microduplication | GENE | GENETICS & HEREDITY | MUTATIONS | CELL BIOLOGY
Journal Article
Molecular Cytogenetics, ISSN 1755-8166, 08/2014, Volume 7, Issue 1, pp. 54 - 54
Background: Since the introduction of the array-CGH technique in the diagnostic workup of mental retardation, new recurrent copy number variations and novel... 
Array-CGH | IMMP2L | Copy number variation | Neurodevelopmental disorders | ACTIVATION | AUTISM | MUTATION | GENETICS & HEREDITY | MITOCHONDRIAL DYSFUNCTION | BREAKPOINT | TOURETTE-SYNDROME | Tourette's syndrome | Autism | Medical research | Medicine, Experimental | Genetic research | Genetic aspects | Diagnosis | Risk factors
Journal Article