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European journal of human genetics : EJHG, ISSN 1476-5438, 2015, Volume 24, Issue 2, pp. 183 - 190
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Human mutation, ISSN 1059-7794, 2018, Volume 39, Issue 5, pp. 666 - 675
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European Journal of Human Genetics, ISSN 1018-4813, 12/2012, Volume 20, Issue 12, pp. 1240 - 1247
... End =www.nature.com/ejhg ARTICLE Phenotypic spectrum and genotypephenotype correlations of NRXN1 exon deletions Christian P Schaaf1, Philip M Boone1, Srirangan... 
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 | Head | speech | gene rearrangement | copy number | Mental retardation | Seizures | genotype–phenotype correlation
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Journal Article
Human mutation, ISSN 1059-7794, 2014, Volume 35, Issue 7, pp. 779 - 790
Journal Article