Results 231 to 240 of about 162,786 (255)

Copy number variant caller

2021
HAAS KEVIN R, WANG XIN, GRAUMAN PETER V
openaire   +2 more sources

Usefulness of copy number variant detection following monogenic disease exclusion in prenatal diagnosis

Journal of Obstetrics and Gynaecology Research, 2021
Xiangdong Kong, Panlai Shi, Xiangdong Kong   +2 more
exaly  

Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy number variants

Genetics in Medicine, 2020
Duanjun Tan, Tracy Brandt, Daniela Del Gaudio   +2 more
exaly  

A splice site and copy number variant responsible for TTC25-related primary ciliary dyskinesia

European Journal of Medical Genetics, 2021
Taila Hartley, Alan Mears, Matthew Osmond   +2 more
exaly  

Copy number variants in schizophrenia

Pharmacopsychiatry, 2011
I Giegling, AM Hartmann, H Konnerth, B Konte, M Friedl, HJ Möller, D Rujescu   +6 more
openaire   +1 more source

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

Genetics in Medicine, 2015
Ali Torkamani, Torkamani Ali
exaly  

Copy Number Variant (CNV)

2017
Prerna Giri, Bhagyalaxmi Mohapatra
openaire   +1 more source

Copy Number Variant in the Region of Adenosine Kinase (ADK) and Its Possible Contribution to Schizophrenia Susceptibility

International Journal of Neuropsychopharmacology, 2018
Branko Aleksic, Itaru Kushima, Hiroki Kimura   +2 more
exaly  

Identification of the copy number variant biomarkers for breast cancer subtypes

Molecular Genetics and Genomics, 2018
Xiaoyong Pan, Yudong Cai, Liucun Zhu
exaly  

Synaptic and Gene Regulatory Mechanisms in Schizophrenia, Autism, and 22q11.2 Copy Number Variant–Mediated Risk for Neuropsychiatric Disorders

Biological Psychiatry, 2020
Michael Gandal, Daniel Nachun, Carrie Bearden   +2 more
exaly