Found: 16
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Genome-wide analyses of LINE-LINE-mediated nonallelic homologous recombination.
- Published in:
- Nucleic Acids Research, 2015, v. 43, n. 4, p. 2188, doi. 10.1093/nar/gku1394
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- Article
A mosaic 2q24.2 deletion narrows the critical region to a 0.4 Mb interval that includes TBR1, TANK, and PSMD14.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 4, p. 841, doi. 10.1002/ajmg.a.35751
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- Article
Human subtelomeric copy number gains suggest a DNA replication mechanism for formation: beyond breakage-fusion-bridge for telomere stabilization.
- Published in:
- Human Genetics, 2012, v. 131, n. 12, p. 1895, doi. 10.1007/s00439-012-1216-9
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- Article
Neurodevelopmental and neurobehavioral characteristics in males and females with CDKL5 duplications.
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- European Journal of Human Genetics, 2015, v. 23, n. 7, p. 915, doi. 10.1038/ejhg.2014.217
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- Article
Somatic mosaicism detected by exon-targeted, high-resolution aCGH in 10 362 consecutive cases.
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- European Journal of Human Genetics, 2014, v. 22, n. 8, p. 969, doi. 10.1038/ejhg.2013.285
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- Article
Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing.
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- European Journal of Human Genetics, 2014, v. 22, n. 1, p. 79, doi. 10.1038/ejhg.2013.77
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- Article
Intragenic deletions of the IGF1 receptor gene in five individuals with psychiatric phenotypes and developmental delay.
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- European Journal of Human Genetics, 2013, v. 21, n. 11, p. 1304, doi. 10.1038/ejhg.2013.42
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- Article
Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities.
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- European Journal of Human Genetics, 2013, v. 21, n. 2, p. 173, doi. 10.1038/ejhg.2012.155
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- Article
Delineation of a deletion region critical for corpus callosal abnormalities in chromosome 1q43-q44.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 2, p. 176, doi. 10.1038/ejhg.2011.171
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- Article
Phenotypic manifestations of copy number variation in chromosome 16p13.11.
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- European Journal of Human Genetics, 2011, v. 19, n. 3, p. 280, doi. 10.1038/ejhg.2010.184
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- Article
Human endogenous retroviral elements promote genome instability via nonallelic homologous recombination.
- Published in:
- BMC Biology, 2014, v. 12, n. 1, p. 1, doi. 10.1186/s12915-014-0074-4
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- Article
Author Correction: Pharmacology of LRRK2 with type I and II kinase inhibitors revealed by cryo-EM.
- Published in:
- 2024
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- Correction Notice
Pharmacology of LRRK2 with type I and II kinase inhibitors revealed by cryo-EM.
- Published in:
- Cell Discovery, 2024, v. 10, n. 1, p. 1, doi. 10.1038/s41421-023-00639-8
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- Publication type:
- Article
Prenatal chromosomal microarray analysis in a diagnostic laboratory; experience with >1000 cases and review of the literature.
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- Prenatal Diagnosis, 2012, v. 32, n. 4, p. 351, doi. 10.1002/pd.3861
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- Article
Detection of clinically relevant exonic copy-number changes by array CGH.
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- Human Mutation, 2010, v. 31, n. 12, p. 1326, doi. 10.1002/humu.21360
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- Article
Small genomic rearrangements involving FMR1 support the importance of its gene dosage for normal neurocognitive function.
- Published in:
- Neurogenetics, 2012, v. 13, n. 4, p. 333, doi. 10.1007/s10048-012-0340-y
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- Article