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Human Mutation, ISSN 1059-7794, 02/2013, Volume 34, Issue 2, pp. 385 - 394
Journal Article
BIOINFORMATICS, ISSN 1367-4803, 08/2019, Volume 35, Issue 15, pp. 2555 - 2561
Motivation Very low-depth sequencing has been proposed as a cost-effective approach to capture low-frequency and rare variation in complex trait association... 
VARIANTS | GENOTYPE IMPUTATION | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | BIOCHEMICAL RESEARCH METHODS | MATHEMATICAL & COMPUTATIONAL BIOLOGY | Index Medicus | Original Papers
Journal Article
Human Mutation, ISSN 1059-7794, 11/2014, Volume 35, Issue 11, pp. 1285 - 1289
Journal Article
Nature genetics, ISSN 1061-4036, 06/2019, Volume 51, Issue 7, pp. 1190 - 1190
An amendment to this paper has been published and can be accessed via a link at the top of the paper. 
Consortia | Sensory neurons
Journal Article
Nature Genetics, ISSN 1061-4036, 08/2012, Volume 44, Issue 8, pp. 934 - 940
Journal Article
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 07/2018, Volume 41, Issue 4, p. 719
To access, purchase, authenticate, or subscribe to the full-text of this article, please visit this link: http://dx.doi.org/10.1007/s10545-017-0122-7 Primary... 
Infants (Newborn) | Pregnant women | Genomics | Resveratrol | Physiological aspects | Boycotts | Genetic aspects
Journal Article
Journal Article
PLoS Pathogens, ISSN 1553-7366, 09/2013, Volume 9, Issue 9
  Herpes simplex encephalitis (HSE) is a lethal neurological disease resulting from infection with Herpes Simplex Virus 1 (HSV-1). Loss-of-function mutations... 
Medical research | Infections | Mutation | Genes | Rodents
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 11/2015, Volume 97, Issue 5, p. 744
  Joubert syndrome (JBTS) is a primarily autosomal-recessive disorder characterized by a distinctive mid-hindbrain and cerebellar malformation, oculomotor... 
Genetic disorders | Pathogenesis | Genetics | Mutation
Journal Article
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 02/2012, Volume 90, Issue 2, pp. 282 - 289
Journal Article
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 07/2018, Volume 41, Issue 4, pp. 719 - 729
Primary CoQ deficiency is a clinically and genetically heterogeneous, autosomal recessive disorder resulting from mutations in genes involved in the synthesis... 
Prenatal | COQ9 | deficiency | Primary CoQ | Mitochondrial disease | Exome sequencing
Journal Article