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Genome Medicine, ISSN 1756-994X, 07/2017, Volume 9, Issue 1, pp. 67 - 67
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 10/2017, Volume 101, Issue 4, pp. 564 - 577
Copy-number changes in 16p11.2 contribute significantly to neuropsychiatric traits. Besides the 600 kb BP4-BP5 CNV found in 0.5%–1% of individuals with autism... 
epistasis | 16p11.2 | zebrafish | head size | autism | obesity | genome architecture | CHROMOSOME 16P11.2 | INTELLECTUAL DISABILITY | MAJOR VAULT PROTEIN | OBESITY | AUTISM | GENETICS & HEREDITY | BRAIN-DEVELOPMENT | DEVELOPMENTAL DELAY | MUTATIONS | COPY-NUMBER VARIANT | PREFRONTAL CORTEX | Microcephaly - genetics | Humans | Middle Aged | Child, Preschool | Male | DNA Copy Number Variations | Brain - metabolism | Young Adult | Membrane Proteins - physiology | Aged, 80 and over | Child | Chromosomes, Human, Pair 16 - genetics | Autistic Disorder - genetics | Chromosome Deletion | Signal Transduction | Embryo, Nonmammalian - pathology | Membrane Proteins - genetics | Intellectual Disability - pathology | Chromosome Disorders - immunology | Zebrafish - genetics | Mice, Knockout | Phenotype | Adolescent | Brain - pathology | Mice | Zebrafish Proteins - genetics | Cohort Studies | Autistic Disorder - pathology | Intellectual Disability - immunology | Embryo, Nonmammalian - metabolism | Autistic Disorder - immunology | Infant | Zebrafish - embryology | Intellectual Disability - genetics | Gene Expression Regulation, Developmental | Microcephaly - pathology | Adult | Female | Membrane Proteins - metabolism | Phosphoproteins - physiology | Chromosome Disorders - pathology | Zebrafish Proteins - metabolism | Mice, Inbred C57BL | Chromosomes, Human, Pair 16 - immunology | Adaptor Proteins, Signal Transducing - physiology | Animals | Adaptor Proteins, Signal Transducing - genetics | Aged | Adaptor Proteins, Signal Transducing - metabolism | Chromosome Disorders - genetics | Cell proliferation | Obesity | Zebra fish | Genetic aspects | Research | Health aspects | Genetic epistasis | Immune system | Index Medicus
Journal Article
Molecular Psychiatry, ISSN 1359-4184, 2017, Volume 22, Issue 6, pp. 836 - 849
Journal Article
Molecular Vision, ISSN 1090-0535, 2011, Volume 17, Issue 134, pp. 1192 - 11202
Journal Article
Journal of Cystic Fibrosis, ISSN 1569-1993, 2010, Volume 9, Issue 6, pp. 447 - 449
Abstract Since the beginning of population screening for CF carriers, it has become apparent that complex CFTR alleles are not uncommon. Deciphering their... 
Pulmonary/Respiratory | Cystic fibrosis | Complex allele | D1270N | R1070W | R74W | CFTR | DIAGNOSIS | VAS-DEFERENS | RARE | NEWBORNS | CONGENITAL ABSENCE | RESPIRATORY SYSTEM | MUTATIONS | Morocco | Cystic Fibrosis - genetics | Humans | Alleles | Cystic Fibrosis Transmembrane Conductance Regulator - genetics | Female | Heterozygote | Infant | Index Medicus
Journal Article
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