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JACC (Journal of the American College of Cardiology), ISSN 0735-1097, 2014, Volume 64, Issue 23, pp. 2498 - 2506
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 3/2016, Volume 113, Issue 9, pp. 2454 - 2459
Journal Article
Bioinformatics (Oxford, England), ISSN 1367-4803, 04/2019
In silico prediction tools are essential for identifying variants which create or disrupt cis splicing motifs. However, there are limited options for... 
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 08/2017, Volume 377, Issue 6, pp. 544 - 552
Genetic variants causing loss of function in the synthesis of nicotinamide adenine dinucleotide were shown to cause congenital malformations that comprise the... 
CAUSES SPONDYLOCOSTAL DYSOSTOSIS | KYNURENINE | TRYPTOPHAN | MEDICINE, GENERAL & INTERNAL | DEFECTS | METABOLISM | VARIANTS | HUMANS | MUTATIONS | SIRTUINS | ASSOCIATION | Limb Deformities, Congenital - genetics | Hydrolases - genetics | Humans | Male | Spine - abnormalities | Heart Defects, Congenital - genetics | Congenital Abnormalities - genetics | Niacin - therapeutic use | Heart Defects, Congenital - prevention & control | NAD - deficiency | NAD - biosynthesis | Female | Disease Models, Animal | Trachea - abnormalities | Hydrolases - metabolism | Limb Deformities, Congenital - prevention & control | NAD - genetics | Congenital Abnormalities - prevention & control | Esophagus - abnormalities | Sequence Analysis, DNA | Mice, Knockout | Anal Canal - abnormalities | Animals | Kidney - abnormalities | 3-Hydroxyanthranilate 3,4-Dioxygenase - genetics | Mice | Mutation | Dietary Supplements | 3-Hydroxyanthranilate 3,4-Dioxygenase - metabolism | Safety and security measures | Gene mutations | NAD (Coenzyme) | Dosage and administration | Birth defects | Research | Niacin | NADPH | CRISPR | Dioxygenase | Enzymes | Congenital diseases | Congenital defects | Adenine | Tryptophan | Prenatal development | Gestation | Metabolism | Patients | Embryos | NAD | Metabolites | Vitamin B | Genetics | Nicotinamide | Supplementation | Index Medicus | Abridged Index Medicus
Journal Article
JOURNAL OF CLINICAL ONCOLOGY, ISSN 0732-183X, 05/2018, Volume 36, Issue 15, pp. e14058 - e14058
Conference Proceeding
Journal Article
American Heart Journal, ISSN 0002-8703, 07/2018, Volume 201, pp. 33 - 39
Journal Article