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Aquaculture, ISSN 0044-8486, 07/2019, p. 734355
Journal Article
02/2008
"Phenotype" is the visible or quantifiable effect of the expression of a gene, whereas the specific genetic constitution responsible for a phenotype is called... 
phenotype | genotype-phenotype correlation | Genotype
Web Resource
European Heart Journal, ISSN 0195-668X, 03/2018, Volume 39, Issue 10, pp. 864 - 873
Abstract Aims Truncating titin variants (TTNtv) are the most prevalent genetic cause of dilated cardiomyopathy (DCM). We aim to study clinical parameters and... 
Genetics | Prognosis | Cardiomyopathy | Titin | Mitochondrial Genotype-phenotype | Genotype-phenotype
Journal Article
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, ISSN 1552-4868, 09/2018, Volume 178, Issue 3, pp. 278 - 280
Journal Article
REVIEW ARTICLE - Neurological, genetic and epigenetic features of Rett syndrome, 10/2004
Rett syndrome (RTT) is a severe neurodevelopmental disorder associated with mutations in the X-linked gene encoding methyl-CpG-binding protein 2 (MECP2).... 
Pediatrics | Neurology | Rett syndrome, MECP2 mutations, X chromosome inactivation, genotype-phenotype correlations. pn04037
Journal
Neuroscience Letters, ISSN 0304-3940, 08/2016, Volume 629, pp. 160 - 164
To investigate the frequency of glucocerebrosidase ( ) mutations in a Flanders-Belgian Parkinson’s disease (PD) patient cohort and to assess genotype-phenotype... 
Glucocerebrosidase | Genotype-phenotype correlation | Parkinson’s disease | GBA
Journal Article
03/2012
Background: The dystrophinopathies, duchenne muscular dystrophy (DMD) and Becker muscular dystrophy are common X-linked genetic myopathies resulting from... 
exon 8 and 9 duplication | Duchenne muscular dystrophy | genotype-phenotype analysis
Web Resource
PLoS ONE, ISSN 1932-6203, 07/2014, Volume 9, Issue 7, p. e102619
Originally published, uncorrected article https://doi.org/10.1371/journal.pone.0102619.s001 (PDF) File S2. (2014) Genotype-Phenotype Correlations in a Mountain... 
Homogeneity
Journal Article
International Heart Journal, ISSN 1349-2365, 2018
The present study was performed to identify the genetic abnormalities in a family with familial hypertrophic cardiomyopathy.Peripheral blood samples were... 
High-throughput Sequence | Genotype-phenotype correlation | MYH7
Journal Article
NEW ENGLAND JOURNAL OF MEDICINE, ISSN 0028-4793, 05/2006, Volume 354, Issue 20, pp. 2151 - 2164
Journal Article
European heart journal, ISSN 0195-668X, 06/2019, Volume 40, Issue 21, pp. 1690 - 1703
Arrhythmogenic cardiomyopathy (AC) shows large heterogeneity in its clinical, genetic, and pathological presentation. This study aims to provide a... 
Arrhythmogenic cardiomyopathy | Cardiovascular pathology | Genotype–phenotype correlation | Heart transplantation | Classification
Journal Article
Journal of Experimental Botany, ISSN 0022-0957, 04/2019, Volume 70, Issue 9, pp. 2575 - 2586
We test abilities of a crop model parameterized with a single experiment to predict genotype×environment interactions. We show that merging the model with GWAS... 
Oryza sativa | Research Papers | GWAS | genomic prediction | Crop modelling | genotype–phenotype relationships | marker design
Journal Article
Journal of Experimental Botany, ISSN 0022-0957, 04/2019, Volume 70, Issue 9, pp. 2389 - 2401
A three-stage model development process facilitates the integration of modelling, phenotyping, and functional gene/QTL detection and effectively advances... 
APSIM | Gene-based modelling | Early vigour | Genotype-phenotype prediction | Trait evaluation | Crop modelling
Journal Article
Genes and Diseases, ISSN 2352-3042, 2019
Many seizures in neonates are due to early-onset epilepsy, which is often difficult to diagnose, especially to explore the causes. Recently, the development of... 
Genetic | Molecular diagnosis | Neonate | Genotype-phenotype | Seizures
Journal Article
Molecular Biology and Evolution, ISSN 0737-4038, 05/2016, Volume 33, Issue 5, pp. 1358 - 1369
Evolutionary changes in cis -regulatory elements are thought to play a key role in morphological and physiological diversity across animals. Many conserved... 
conserved noncoding elements | genotype–phenotype matching | mammals | reverse genomics | Methods
Journal Article
Journal Article
Clinica Chimica Acta, ISSN 0009-8981, 10/2015, Volume 450, pp. 51 - 55
We investigated the mutation spectrum of the phenylalanine hydroxylase gene (PAH) in a cohort of patients from 33 Italian PKU families. Mutational screening of... 
BH 4 responsiveness prediction | Genotype-phenotype correlation | Hyperphenylalaninemia
Journal Article