Results 241 to 249 of about 9,621,488 (249)

SG-ADVISER CNV: copy-number variant annotation and interpretation

Genetics in Medicine, 2015
Ali Torkamani
exaly  

Copy Number Variants, Aneuploidies, and Human Disease

Clinics in Perinatology, 2015
David H. Ledbetter, Christa Lese Martin
exaly  

Critical reappraisal of mechanistic links of copy number variants to dimensional constructs of neuropsychiatric disorders in mouse models

Psychiatry and Clinical Neurosciences, 2018
Noboru Hiroi
exaly  

Copy Number Variants and Pharmacogenomics

Pharmacogenomics, 2006
Charles Lee, Neal I Lindeman
exaly  

Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders

Genetics in Medicine, 2017
Richard J Rodenburg, Lisenka Vissers, Erik-Jan Kamsteeg   +2 more
exaly  

A Computational Framework Discovers New Copy Number Variants with Functional Importance

PLoS ONE, 2011
Samprit Banerjee, Maria S Poptsova, Francesca Demichelis   +2 more
exaly  

Novel copy-number variants in a population-based investigation of classic heterotaxy

Genetics in Medicine, 2015
Paul Romitti, Robert J Sicko, Marilyn L Browne   +2 more
exaly  

Contribution of copy number variants on antipsychotic treatment response in Han Chinese patients with schizophrenia

EBioMedicine
Weihua Yue, Guorui Zhao
exaly  

Large copy number variants are an important cause of congenital hyperinsulinism that should be screened for during routine testing

Frontiers in Endocrinology
Thomas W Laver, Jayne A. Houghton, Jonna Männistö   +2 more
exaly