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European Journal of Human Genetics, ISSN 1018-4813, 02/2016, Volume 24, Issue 2, pp. 183 - 190
Journal Article
Clinical Genetics, ISSN 0009-9163, 04/2018, Volume 93, Issue 4, pp. 837 - 845
Journal Article
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 04/2018, Volume 176, Issue 4, pp. 925 - 935
Journal Article
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 2/2013, Volume 110, Issue 7, pp. 2611 - 2616
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 12/2012, Volume 20, Issue 12, pp. 1240 - 1247
Copy number variants (CNVs) and intragenic rearrangements of the NRXN1 (neurexin 1) gene are associated with a wide spectrum of developmental and... 
epilepsy | neurexin 1 | macrocephaly | intellectual disability | genotype-phenotype correlation | BIOCHEMISTRY & MOLECULAR BIOLOGY | ALPHA-NEUREXINS | SCHIZOPHRENIA | CELL-ADHESION | NICOTINE DEPENDENCE | DISRUPTION | GENES | CNVS | GENETICS & HEREDITY | DISORDER | GENOME-WIDE | ASSOCIATION | Humans | Infant | Male | DNA Copy Number Variations | Intellectual Disability - genetics | Muscle Hypotonia - diagnosis | Microarray Analysis | Gene Deletion | Child Development Disorders, Pervasive - diagnosis | Adult | Female | Child | Abnormalities, Multiple - genetics | Muscle Hypotonia - genetics | Introns | Exons - genetics | Genotype | Nerve Tissue Proteins - genetics | Cell Adhesion Molecules, Neuronal - genetics | Muscle Hypotonia - congenital | Phenotype | Child Development Disorders, Pervasive - genetics | Abnormalities, Multiple - diagnosis | Intellectual Disability - diagnosis | Adolescent | Protein Isoforms - genetics | Pediatrics | Phenotypes | Congenital diseases | Mental disorders | Laboratories | Congenital defects | Intellectual disabilities | Copy number | Exons | Epilepsy | Genes | Schizophrenia | Genomes | Patients | Medicine | Autism | DNA microarrays | Genetics | Speech | Chromosomes | Genotypes | Nicotine | Index Medicus | Head | speech | gene rearrangement | copy number | Mental retardation | Seizures | genotype–phenotype correlation
Journal Article
Human Mutation, ISSN 1059-7794, 05/2018, Volume 39, Issue 5, pp. 666 - 675
Journal Article