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Nature Genetics, ISSN 1061-4036, 01/2019, Volume 51, Issue 1, pp. 96 - 105
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 04/2016, Volume 98, Issue 4, p. 615
  Glycosylphosphatidylinositol (GPI) is a glycolipid that anchors >150 various proteins to the cell surface. At least 27 genes are involved in biosynthesis and... 
Proteins | Pathogens | Convulsions & seizures | Intellectual disabilities | Lipids | Muscular system | Mutation
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 10/2016, Volume 99, Issue 4, p. 984
  Amelogenesis is the process of dental enamel formation, leading to the deposition of the hardest tissue in the human body. This process requires the... 
Proteins | Matrix | Enamel | Mutation
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 12/2015, Volume 97, Issue 6, p. 878
  The neuromuscular junction (NMJ) consists of a tripartite synapse with a presynaptic nerve terminal, Schwann cells that ensheathe the terminal bouton, and a... 
Proteins | Genes | Collagen | Families & family life | Genomes | Mutation | Cells
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 12/2015, Volume 97, Issue 6, p. 878
The neuromuscular junction (NMJ) consists of a tripartite synapse with a presynaptic nerve terminal, Schwann cells that ensheathe the terminal bouton, and a... 
Causes of | Congenital myasthenic syndromes | Genetic aspects | Gene mutations | Health aspects | Collagen
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 02/2013, Volume 92, Issue 2, pp. 307 - 312
A combination of autozygosity mapping and exome sequencing identified a null mutation in SLC24A4 in a family with hypomineralized amelogenesis imperfect a... 
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 02/2013, Volume 92, Issue 2, p. 307
  A combination of autozygosity mapping and exome sequencing identified a null mutation in SLC24A4 in a family with hypomineralized amelogenesis imperfect a... 
Proteins | Calcium | Rodents | Mutation | Potassium | Binding sites
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 12/2013, Volume 93, Issue 6, p. 1135
  Short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities (SAMS) has been reported previously to be a rare,... 
Musculoskeletal diseases | Proteins | Genetic disorders | Mutation
Journal Article
Nature Genetics, ISSN 1061-4036, 02/2014, Volume 46, Issue 2, pp. 188 - 193
Mitochondrial Ca2+ uptake has key roles in cell life and death. Physiological Ca2+ signaling regulates aerobic metabolism, whereas pathological Ca2+ overload... 
UNIPORTER | DISEASE | GENETICS & HEREDITY | MUSCULAR-DYSTROPHY | CA2+ UPTAKE | CELL-SURVIVAL | PROTEINS | MCU | Immunohistochemistry | Calcium Channels - metabolism | Calcium Signaling - physiology | Humans | DNA, Complementary - genetics | Molecular Sequence Data | Mitochondrial Membrane Transport Proteins - genetics | Histological Techniques | Cation Transport Proteins - metabolism | Base Sequence | Membrane Potential, Mitochondrial - genetics | Cation Transport Proteins - genetics | Quadriceps Muscle - pathology | Real-Time Polymerase Chain Reaction | Calcium-Binding Proteins - metabolism | Mitochondrial Membrane Transport Proteins - metabolism | Mitochondria - metabolism | Sequence Analysis, DNA | Exome - genetics | Phenotype | Analysis of Variance | Pedigree | Extrapyramidal Tracts - pathology | Fluorescent Antibody Technique | Polymorphism, Single Nucleotide - genetics | Learning Disorders - genetics | Movement Disorders - genetics | Muscular Diseases - genetics | Calcium Signaling - genetics | Calcium-Binding Proteins - genetics | Gene mutations | Cellular signal transduction | Muscle diseases | Genetic aspects | Research | Health aspects | Risk factors | Proteins | Medical research | Cell culture | Mitochondria | Genealogy | Biomedical research | Nuclear magnetic resonance--NMR | Mutation | Kinases | Muscular dystrophy
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 09/2012, Volume 91, Issue 3, p. 565
  Autozygosity mapping and clonal sequencing of an Omani family identified mutations in the uncharacterized gene, C4orf26, as a cause of recessive... 
Proteins | Peptides | Teeth | Mutation | Gene expression | Medical disorders | Cells
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 09/2011, Volume 89, Issue 3, p. 464
Anterior segment dysgenesis describes a group of heterogeneous developmental disorders that affect the anterior chamber of the eye and are associated with an... 
Proteins | Genotype & phenotype | Enzymes | Eye diseases | Mutation
Journal Article
Nature Genetics, ISSN 1061-4036, 2014, Volume 46, Issue 4, pp. 326 - 328
Journal Article
Nature genetics, ISSN 1061-4036, 07/2010, Volume 42, Issue 7, p. 619
Journal Article
Nature Genetics, ISSN 1061-4036, 03/2011, Volume 43, Issue 3, pp. 189 - 196
Journal Article
Journal Article