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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 Article
The American Journal of Human Genetics, ISSN 0002-9297, 2010, Volume 86, Issue 3, pp. 434 - 439
Journal Article
Science, ISSN 0036-8075, 4/2010, Volume 328, Issue 5978, pp. 636 - 639
We analyzed the whole-genome sequences of a family of four, consisting of two siblings and their parents. Family-based sequencing allowed us to delineate... 
Genetic inheritance | Inheritance patterns | Genes | REPORTS | Parents | Genomes | Children | Genetic mutation | Sequencing | Chromosomes | Siblings | NUCLEOTIDE | MIDDLE AWASH | RECOMBINATION | RATES | PLEISTOCENE | MULTIDISCIPLINARY SCIENCES | HUMANS | ETHIOPIA | Limb Deformities, Congenital - genetics | Crossing Over, Genetic | Genetic Association Studies | Humans | Axonemal Dyneins - genetics | Nuclear Family | Male | Genes, Recessive | Sequence Analysis, DNA | Syndrome | Inheritance Patterns | Mandibulofacial Dysostosis - genetics | Algorithms | Genes, Dominant | Pedigree | Alleles | Female | Oxidoreductases Acting on CH-CH Group Donors - genetics | Polymorphism, Single Nucleotide | Mutation | Genome, Human | Abnormalities, Multiple - genetics | Ciliary Motility Disorders - genetics | Heredity | Genetic aspects | Research | Nucleotide sequencing | Brothers and sisters | Identification and classification | Methods | Multiple birth | Families & family life | Genetic disorders | Genomics | Polymorphism | Index Medicus | crossover | haplotype | inheritance state | DNAH5 | inheritance analysis | de novo mutations | haploidentical block | rare genetic disease | HMM | DHODH | whole genome sequencing | haploidentity | KIAA0556 | inheritance vector | recombination hotspot | Miller syndrome | POADS | recessive models | CES1
Journal Article
Journal Article
CELL, ISSN 0092-8674, 10/2004, Volume 119, Issue 1, pp. 19 - 31
Ca(v)1.2, the cardiac L-type calcium channel, is important for excitation and contraction of the heart. Its role in other tissues is unclear. Here we present... 
FUNCTIONAL EXPRESSION | BIOCHEMISTRY & MOLECULAR BIOLOGY | HUMAN GENETIC-DISEASE | SUDDEN CARDIAC DEATH | CA2+ CHANNEL | MOLECULAR DETERMINANTS | LONG-QT SYNDROME | LANGE-NIELSEN-SYNDROME | PERVASIVE DEVELOPMENTAL DISORDERS | STATIONARY NIGHT BLINDNESS | POTASSIUM CHANNEL | CELL BIOLOGY | Limb Deformities, Congenital - genetics | Action Potentials - genetics | Autistic Disorder - physiopathology | Calcium - metabolism | Humans | Genetic Diseases, Inborn - genetics | Male | Cell Membrane - genetics | Arrhythmias, Cardiac - physiopathology | Mutation, Missense - genetics | Oocytes | Brain - metabolism | Genetic Diseases, Inborn - complications | Female | Cell Membrane - metabolism | Neurons - metabolism | Child | Abnormalities, Multiple - genetics | Arrhythmias, Cardiac - genetics | Infant, Newborn | Brain Chemistry - genetics | CHO Cells | Autistic Disorder - genetics | Heart - physiopathology | Cricetinae | Brain - physiopathology | Xenopus laevis | Abnormalities, Multiple - physiopathology | Syndrome | Animals | Calcium Channels, L-Type - genetics | Pedigree | Myocytes, Cardiac - metabolism | Limb Deformities, Congenital - complications | Arrhythmias, Cardiac - complications | Genetic Diseases, Inborn - physiopathology | Mice | Calcium Channels, L-Type - metabolism | Autistic Disorder - complications | Calcium Signaling - genetics | Index Medicus
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 05/2012, Volume 90, Issue 5, pp. 925 - 933
Journal Article
PLoS Genetics, ISSN 1553-7390, 12/2006, Volume 2, Issue 12, pp. 2116 - 2130
Journal Article