标题
The genetic basis of disease
作者
关键词
-
出版物
Essays in Biochemistry
Volume 62, Issue 5, Pages 643-723
出版商
Portland Press Ltd.
发表日期
2018-12-03
DOI
10.1042/ebc20170053
参考文献
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- (2018) Isabelle Stévant et al. MOLECULAR AND CELLULAR ENDOCRINOLOGY
- Evolving health care through personal genomics
- (2017) Heidi L. Rehm NATURE REVIEWS GENETICS
- Structural aspects of the inactive X chromosome
- (2017) Giancarlo Bonora et al. PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES
- CRISPR Genome Engineering for Human Pluripotent Stem Cell Research
- (2017) Somali Chaterji et al. Theranostics
- The Biology of Aging and Cancer: A Brief Overview of Shared and Divergent Molecular Hallmarks
- (2017) Jan R. Aunan et al. Aging and Disease
- Emerging therapies for mitochondrial disorders
- (2016) Helen Nightingale et al. BRAIN
- Cystic fibrosis
- (2016) Stacey L. Martiniano et al. CURRENT OPINION IN PEDIATRICS
- Making Sense of Epigenetics
- (2016) Kornel Schuebel et al. INTERNATIONAL JOURNAL OF NEUROPSYCHOPHARMACOLOGY
- Greater Than the Sum of Parts: Complexity of the Dynamic Epigenome
- (2016) Alexey A. Soshnev et al. MOLECULAR CELL
- Epigenetic modulators, modifiers and mediators in cancer aetiology and progression
- (2016) Andrew P. Feinberg et al. NATURE REVIEWS GENETICS
- The hallmarks of premalignant conditions: a molecular basis for cancer prevention
- (2016) Bríd M. Ryan et al. SEMINARS IN ONCOLOGY
- Epigenetics and Human Disease
- (2016) Huda Y. Zoghbi et al. Cold Spring Harbor Perspectives in Biology
- The somatic mutation profiles of 2,433 breast cancers refines their genomic and transcriptomic landscapes
- (2016) Bernard Pereira et al. Nature Communications
- The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities
- (2015) Jessica X. Chong et al. AMERICAN JOURNAL OF HUMAN GENETICS
- X-chromosome gene dosage as a determinant of impaired pre and postnatal growth and adult height in Turner syndrome
- (2015) Elodie Fiot et al. EUROPEAN JOURNAL OF ENDOCRINOLOGY
- Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
- (2015) Sue Richards et al. GENETICS IN MEDICINE
- MECP2 disorders: from the clinic to mice and back
- (2015) Laura Marie Lombardi et al. JOURNAL OF CLINICAL INVESTIGATION
- Building the foundation for genomics in precision medicine
- (2015) Samuel J. Aronson et al. NATURE
- Genetic Mosaics and the Germ Line Lineage
- (2015) Mark Samuels et al. Genes
- Genetics of Type 2 Diabetes—Pitfalls and Possibilities
- (2015) Rashmi Prasad et al. Genes
- Emerging Issues in Public Health Genomics
- (2014) J. Scott Roberts et al. Annual Review of Genomics and Human Genetics
- The MAPK pathway across different malignancies: A new perspective
- (2014) Mauricio Burotto et al. CANCER
- Regulation of male sex determination: genital ridge formation and Sry activation in mice
- (2014) Satomi S. Tanaka et al. CELLULAR AND MOLECULAR LIFE SCIENCES
- Genomic Imprinting in Mammals
- (2014) D. P. Barlow et al. Cold Spring Harbor Perspectives in Biology
- Genomics, Personalized Medicine, and Pediatrics
- (2013) William Gregory Feero et al. Academic Pediatrics
- Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing
- (2013) Joanna Wiszniewska et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Molecular genetic testing and the future of clinical genomics
- (2013) Sara Huston Katsanis et al. NATURE REVIEWS GENETICS
- Next-generation sequencing in the clinic: Promises and challenges
- (2012) Jiekun Xuan et al. CANCER LETTERS
- A Comprehensive Survey of Ras Mutations in Cancer
- (2012) I. A. Prior et al. CANCER RESEARCH
- Sex determination
- (2012) Tony Gamble et al. CURRENT BIOLOGY
- Use of the MLPA Assay in the Molecular Diagnosis of Gene Copy Number Alterations in Human Genetic Diseases
- (2012) Liborio Stuppia et al. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
- Counseling Customers: Emerging Roles for Genetic Counselors in the Direct-to-Consumer Genetic Testing Market
- (2012) Anna Harris et al. Journal of Genetic Counseling
- The Role of the Apoptotic Machinery in Tumor Suppression
- (2012) A. R. D. Delbridge et al. Cold Spring Harbor Perspectives in Biology
- Human Genome Sequencing in Health and Disease
- (2011) Claudia Gonzaga-Jauregui et al. Annual Review of Medicine
- Hallmarks of Cancer: The Next Generation
- (2011) Douglas Hanahan et al. CELL
- The Dutch Hunger Winter and the developmental origins of health and disease
- (2010) L. C. Schulz PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
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