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Cytogenetic and Genome Research, ISSN 1424-8581, 01/2019, Volume 156, Issue 3, pp. 144 - 149
Submicroscopic chromosomal alterations usually involve different protein-coding genes and regulatory elements that are responsible for rare contiguous gene... 
Novel Insights from Clinical Practice | Intellectual disability | CNTN6 | Autism spectrum disorder | Microdeletion/microduplication | Microdeletion | microduplication | GENETICS & HEREDITY | NB-3 | CELL BIOLOGY
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
Quaderni di Sociologia, ISSN 0033-4952, 12/2017
Journal Article
Molecular Cytogenetics, ISSN 1755-8166, 07/2014, Volume 7, Issue 1, pp. 49 - 49
Journal Article
European Journal of Medical Genetics, ISSN 1769-7212, 09/2019, Volume 62, Issue 9, p. 103555
The gene, widely expressed in the brain, encodes a voltage-gated potassium channel (Kv7.5) important for neuronal function. Here, we report a novel intragenic... 
Array-CGH | Absence epilepsy in adolescence | Intellectual disability | Duplication | Exon skipping | 6q13 | GENETICS & HEREDITY | MUTATIONS | EPILEPSY
Journal Article
European Journal of Medical Genetics, ISSN 1769-7212, 08/2018, Volume 61, Issue 8, pp. 428 - 433
Heterogeneous clinical and neuropsychological features, such as intellectual disability, developmental and language delay, hypotonia, and, to a lesser extent,... 
Array-CGH | Small region of overlap | 3q29 duplication | MOLECULAR CHARACTERIZATION | UBIQUITIN LIGASE | GENETICS & HEREDITY | FBXO45 | Cytogenetics | Analysis
Journal Article
Molecular Cytogenetics, ISSN 1755-8166, 2015, Volume 8, Issue 1, pp. 17 - 17
(Background: Ring chromosome 2 is a rare constitutional abnormality that generally occurs de novo. About 14 cases have been described to date, but the vast... 
Array-CGH | Brain MRI | Ring chromosome 2 | 2p25.3 deletion | 2q37.3 deletion | Diffusion tensor imaging | MICRODELETION | GENETICS & HEREDITY | FISH | MOSAICISM | FEATURES | Genetic research | Cytogenetics | Brain | Growth | Genes
Journal Article
Nature, ISSN 0028-0836, 01/1994, Volume 367, Issue 6461, pp. 378 - 380
Mutations have been found in the extracellular domain of the RET protein in patients with Hirschsprung's disease (HSCR). HSCR, which has been attributed to the... 
Journal Article
Human Genetics, ISSN 0340-6717, 1990, Volume 85, Issue 4, pp. 400 - 402
A sample of 175 Italian cystic fibrosis patients has been analysed for the presence of the delta F508 mutation. The frequency of this mutation among 137... 
GENETICS & HEREDITY | Chromosome Deletion | Haplotypes | Cystic Fibrosis - genetics | Gene Frequency | Humans | Italy - epidemiology | Cystic Fibrosis - epidemiology
Journal Article
Human Genetics, ISSN 0340-6717, 1990, Volume 85, Issue 4, pp. 423 - 424
The frequency of the delta F508 mutation in a sample of 29 cystic fibrosis (CF) families from the USSR is equal to 44.8%, in agreement with previously reported... 
GENETICS & HEREDITY | USSR - epidemiology | Mutation | Cystic Fibrosis - epidemiology | Cystic Fibrosis - genetics | Gene Frequency | Humans
Journal Article
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