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Molecular cell, ISSN 1097-2765, 11/2011, Volume 44, Issue 4, pp. 660 - 666
Biochemistry & Molecular Biology | Life Sciences & Biomedicine | Science & Technology | Cell Biology | Protein Biosynthesis | Hydro-Lyases - deficiency | Microcephaly - genetics | Microtubule-Associated Proteins - genetics | Saccharomyces cerevisiae - genetics | Humans | Ribonucleoproteins, Small Nuclear - genetics | Ribosomes - metabolism | Fetal Growth Retardation - genetics | Microcephaly - enzymology | Dyskeratosis Congenita - genetics | RNA, Ribosomal - genetics | Intellectual Disability - genetics | Nuclear Proteins - deficiency | Cell Cycle Proteins - genetics | Intellectual Disability - enzymology | RNA, Transfer - genetics | Hydro-Lyases - metabolism | Hydro-Lyases - genetics | Microtubule-Associated Proteins - deficiency | Nuclear Proteins - genetics | RNA, Transfer - chemistry | Binding Sites | Fetal Growth Retardation - enzymology | Genes, Reporter | Transduction, Genetic | Luciferases - analysis | RNA, Transfer - metabolism | RNA, Ribosomal - chemistry | Ribosomes - chemistry | RNA, Ribosomal - metabolism | Ribonucleoproteins, Small Nuclear - deficiency | Cell Cycle Proteins - deficiency | Saccharomyces cerevisiae Proteins - genetics | Dyskeratosis Congenita - enzymology | Sequence Homology, Amino Acid | Animals | Plasmids | Saccharomyces cerevisiae - enzymology | Mice | Mutation | Cricket | Chemical properties | Paralysis | Molecular genetics | Cells | Transfer RNA | Index Medicus | Dyskeratosis | Fidelity | RNA modification | Internal ribosome entry site | Translation | tRNA | rRNA | Ribosomes | X chromosome | pseudouridylation | Evolution
Journal Article
Science (American Association for the Advancement of Science), ISSN 0036-8075, 8/2001, Volume 293, Issue 5532, pp. 1107 - 1112
Hypertension | Polymerase chain reaction | Kidneys | Exons | Genomics | DNA | Genetic loci | Amino acids | Genetic mutation | Chromosomes | Research Article | Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Cardiology. Vascular system | Biological and medical sciences | Arterial hypertension. Arterial hypotension | Medical sciences | Clinical manifestations. Epidemiology. Investigative techniques. Etiology | Blood and lymphatic vessels | Sequence Deletion | Kidney Tubules, Distal - enzymology | Intercellular Junctions - enzymology | Minor Histocompatibility Antigens | Humans | Pseudohypoaldosteronism - physiopathology | Molecular Sequence Data | Male | Mutation, Missense | Phosphoproteins - metabolism | Chromosomes, Human, Pair 17 - genetics | WNK Lysine-Deficient Protein Kinase 1 | Kidney Tubules, Distal - ultrastructure | Base Sequence | Female | Kidney Tubules, Collecting - enzymology | Membrane Proteins - metabolism | Hypertension - enzymology | Hypertension - genetics | Chromosomes, Human, Pair 12 - genetics | Protein-Serine-Threonine Kinases - metabolism | Genetic Linkage | Amino Acid Sequence | Cytoplasm - enzymology | Kidney Tubules, Collecting - ultrastructure | Signal Transduction | Introns | Pseudohypoaldosteronism - genetics | Protein-Serine-Threonine Kinases - genetics | Intracellular Signaling Peptides and Proteins | Chromosome Mapping | Hypertension - physiopathology | Gene Expression Regulation, Enzymologic | Pseudohypoaldosteronism - enzymology | Zonula Occludens-1 Protein | Pedigree | Protein-Serine-Threonine Kinases - chemistry | Mutation | Microscopy, Fluorescence | Protein kinases | Genetic aspects | Proteins | Genes | WNK4 gene | WNK1 gene | pseudohypoaldosteronism (type II) | Index Medicus
Journal Article
American journal of human genetics, ISSN 0002-9297, 02/2018, Volume 102, Issue 2, pp. 278 - 295
Journal Article
Journal Article
Blood, ISSN 0006-4971, 06/2003, Volume 101, Issue 12, pp. 4660 - 4666
Journal Article
The Journal of clinical investigation, ISSN 0021-9738, 02/2015, Volume 125, Issue 2, pp. 563 - 570
Journal Article