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32199 publications found in the database

*2015 (1336)

*Starting in 2010, coverage has been refocused on core journals.

2015 Publications

Interstitial Microdeletions Including the Chromosome Band 4q13.2 and the UBA6 Gene as Possible Causes of Intellectual Disability and Behavior Disorder
Quintela, I. et al. American Journal of Medical Genetics Part a 167(12), 3113-20, 2015, CytoScan  PubMed

Female Patient with Autistic Disorder, Intellectual Disability, and Co-Morbid Anxiety Disorder: Expanding the Phenotype Associated with the Recurrent 3q13.2-q13.31 Microdeletion
Quintela, I. et al. American Journal of Medical Genetics Part a 167(12), 3121-9, 2015, CytoScan  PubMed

Paternal Uniparental Disomy Chromosome 14-Like Syndrome due a Maternal De Novo 160 kb Deletion at the 14q32.2 Region Not Encompassing the IG- and the MEG3-DMRs: Patient Report and Genotype-Phenotype Correlation
Corsello, G. et al. American Journal of Medical Genetics Part a 167(12), 3130-8, 2015, CytoScan  PubMed

Rare Genomic Rearrangement in a Boy with Williams-Beuren Syndrome Associated to XYY Syndrome and Intriguing Behavior
Dutra, R. L. et al. American Journal of Medical Genetics Part a 167(12), 3197-203, 2015, CytoScan  PubMed

Paternal Duplication of the 11p15 Centromeric Imprinting Control Region Is Associated with Increased Expression of CDKN1C in a Child with Russell-Silver Syndrome
Xue, Y. et al. American Journal of Medical Genetics Part a 167(12), 3229-33, 2015, CytoScan  PubMed

De Novo 9q Gain in an Infant with Tetralogy of Fallot with Absent Pulmonary Valve: Patient Report and Review of Congenital Heart Disease in 9q Duplication Syndrome
Amarillo, I. E. et al. American Journal of Medical Genetics Part a 167(12), 2966-74, 2015, CytoScan  PubMed

Exome Analysis of a Family with Wolff-Parkinson-White Syndrome Identifies a Novel Disease Locus
Bowles, N. E. et al. American Journal of Medical Genetics Part a 167(12), 2975-84, 2015, ExoSAP-IT  PubMed

DCLRE1C (ARTEMIS) mutations causing phenotypes ranging from atypical severe combined immunodeficiency to mere antibody deficiency
Volk, T. et al. Human Molecular Genetics 24(25), 7361-72, 2015, Genome-Wide Human SNP Array 6.0  PubMed

A Conserved Core of Programmed Cell Death Indicator Genes Discriminates Developmentally and Environmentally Induced Programmed Cell Death in Plants
Olvera-Carrillo, Y. et al. Plant Physiology 169(4), 2684-99, 2015, Arabidopsis ATH1 Genome Array  PubMed

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