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Kidney International, ISSN 0085-2538, 09/2014, Volume 86, Issue 3, pp. 459 - 461
Autosomal dominant tubulointerstitial kidney disease (ADTKD) refers to a group of conditions characterized by autosomal dominant inheritance, a bland urinary... 
UROLOGY & NEPHROLOGY | TYPE-1 | MUTATIONS | Chromosomes, Human, Pair 1 | Nephritis, Interstitial - pathology | Nephritis, Interstitial - genetics | Humans | Chromosome Aberrations | Chromosomes, Human, Pair 16 | Female | Male | Kidney Tubules - pathology | Uromodulin - genetics | Mucin-1 - genetics | Index Medicus
Journal Article
Kidney International, ISSN 0085-2538, 10/2015, Volume 88, Issue 4, pp. 676 - 683
Journal Article
Journal of clinical investigation, ISSN 0021-9738, 2012, Volume 122, Issue 2, pp. 519 - 528
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 08/2011, Volume 89, Issue 2, pp. 241 - 252
Journal Article
NEW ENGLAND JOURNAL OF MEDICINE, ISSN 0028-4793, 05/2019, Volume 380, Issue 21, pp. 2080 - 2080
Journal Article
Nature Genetics, ISSN 1061-4036, 03/2013, Volume 45, Issue 3, pp. 299 - 303
Journal Article
Journal Article
PLoS ONE, ISSN 1932-6203, 04/2018, Volume 13, Issue 4, pp. e0195761 - e0195761
Background Carriers of mutations in hereditary cancer predisposition genes represent a small but clinically important subgroup of oncology patients. The... 
BREAST-CANCER | BRCA1 GENE | SEQUENCE VARIATION | PREDISPOSITION GENES | COLORECTAL-CANCER | MULTIDISCIPLINARY SCIENCES | HIGH PROPORTION | AMERICAN-COLLEGE | GENETIC-VARIANTS | MEDICAL GENETICS | OVARIAN-CANCER | Panels | Copy number | Genes | Genomics | Oncology | Biochemistry | Medical diagnosis | Epidemiology | Genetic screening | Subgroups | Gene sequencing | Cancer detection and diagnosis | Consolidation | Next-generation sequencing | Cell cycle | DNA fragmentation | Genetics | Bioinformatics | Genetic counselling | Genotypes | Deoxyribonucleic acid--DNA | DNA replication | Risk groups | Genome sequencing | Health risks | Breast cancer | Patients | Genetic causes of cancer | Medicine | Czech Republic | Hospitals | DNA | Diagnostic systems | Mutation | Cancer | DNA sequencing | Computational Biology - methods | Genetic Predisposition to Disease | Reproducibility of Results | Genetic Testing | Genetic Association Studies | Humans | Male | Biomarkers, Tumor | INDEL Mutation | DNA Copy Number Variations | High-Throughput Nucleotide Sequencing - standards | Sensitivity and Specificity | Female | Neoplastic Syndromes, Hereditary - genetics | High-Throughput Nucleotide Sequencing - methods | Usage | Gene mutations | Oncology, Experimental | Genotype | Research | High-throughput screening (Biochemical assaying) | Index Medicus | Deoxyribonucleic acid
Journal Article
Nature Genetics, ISSN 1061-4036, 11/2008, Volume 40, Issue 11, pp. 1288 - 1290
Journal Article
Clinical Journal of the American Society of Nephrology, ISSN 1555-9041, 01/2016, Volume 11, Issue 1, pp. 6 - 8
Journal Article
Rheumatology, ISSN 1462-0324, 07/2018, Volume 57, Issue 7, pp. 1180 - 1185
Journal Article
Nature Neuroscience, ISSN 1097-6256, 02/2018, Volume 21, Issue 2, pp. 207 - 217
The formation of the vertebrate brain requires the generation, migration, differentiation and survival of neurons. Genetic mutations that perturb these... 
HIPPOCAMPUS | MOUSE MUTANT | DEFECTS | PROTEIN | LIM-KINASE | AUTOPHAGY | DYSFUNCTION | DENTATE GYRUS | NEUROSCIENCES | BRAIN | COFILIN PHOSPHORYLATION | Brain | Cell survival | Migration | Trafficking | Epilepsy | Cortex | Telencephalon | Neurodevelopmental disorders | Signalling | Autophagy | Ablation | Substrates | Atrophy | Ethyl nitrosourea | Fractures | Mutation | Cell migration | Hippocampus | Phagocytosis | Apoptosis | Neurons - pathology | Vacuolar Proton-Translocating ATPases - genetics | Embryo, Mammalian | Humans | Atrophy - pathology | Ethylnitrosourea - toxicity | Gene Expression Regulation, Developmental - genetics | Male | Neurodevelopmental Disorders - genetics | Neurodevelopmental Disorders - diagnostic imaging | Autophagy - drug effects | Cell Movement - genetics | Vacuolar Proton-Translocating ATPases - drug effects | Neurons - ultrastructure | Alkylating Agents - toxicity | Neurodevelopmental Disorders - chemically induced | Atrophy - genetics | Female | Autophagy - genetics | Neurons - drug effects | Disease Models, Animal | Animals, Newborn | Mice, Inbred C57BL | Gene Expression Regulation, Developmental - drug effects | Mice, Transgenic | Signal Transduction - genetics | Neurodevelopmental Disorders - pathology | Brain - drug effects | Cell Movement - drug effects | Animals | Mutation - drug effects | Signal Transduction - drug effects | Brain - pathology | Atrophy - chemically induced | Mice | Gene mutations | Neuronal migration disorders | Genetic aspects | Health aspects | Mental illness | Risk factors | Brain diseases | Index Medicus
Journal Article