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1997, Artech House optoelectronics library, ISBN 9780890066072, xiv, 315
Book
Calcified Tissue International, ISSN 0171-967X, 6/2019, Volume 104, Issue 6, pp. 613 - 621
Paget’s disease of bone (PDB) is a common, late-onset bone disorder characterized by focal increase of bone turnover. Mutations in the SQSTM1 gene are found in... 
Life Sciences | Biochemistry, general | Pathogenesis | Orthopedics | Paget’s disease of bone | RIN3 | Targeted sequencing | Molecular inversion probes | Modifier | Endocrinology | Cell Biology | Proline | Genetic diversity | Chromosome 14 | Bone turnover | Regression analysis | Variation | Age | Genetic screening
Journal Article
PLoS genetics, ISSN 1553-7404, 04/2018, Volume 14, Issue 4, pp. e1007321 - e1007321
Journal Article
Human Mutation, ISSN 1059-7794, 08/2016, Volume 37, Issue 8, pp. 812 - 819
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 09/2017, Volume 127, Issue 9, pp. 3543 - 3556
Journal Article
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 12/2015, Volume 167, Issue 12, pp. 2869 - 2892
The purpose of the nosology is to serve as a "master" list of the genetic disorders of the skeleton to facilitate diagnosis and to help delineate variant or... 
nosology | molecular basis of disease | dwarfism | skeletal dysplasias | Dwarfism | Nosology | Molecular basis of disease | Skeletal dysplasias | NOMENCLATURE | GENETICS & HEREDITY | CONSTITUTIONAL DISORDERS | Bone Diseases - classification | Bone Diseases - genetics | Humans | Genetic Diseases, Inborn - classification | Index Medicus
Journal Article
Clinical Genetics, ISSN 0009-9163, 10/2019, Volume 96, Issue 4, pp. 378 - 379
Journal Article
Genome Biology, ISSN 1474-7596, 2007, Volume 8, Issue 2, pp. R19 - R19
Although quantitative PCR (qPCR) is becoming the method of choice for expression profiling of selected genes, accurate and straightforward processing of the... 
TARGET | MUTATIONS | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | GENES | GENETICS & HEREDITY | Gene Expression Profiling - methods | Models, Genetic | Software | Algorithms | Polymerase Chain Reaction - methods | Index Medicus | Method
Journal Article