安裝中文字典英文字典辭典工具!
安裝中文字典英文字典辭典工具!
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- GeneReviews® - NCBI Bookshelf
GeneReviews, an international point-of-care resource for busy clinicians, provides clinically relevant and medically actionable information for inherited conditions in a standardized journal-style format, covering diagnosis, management, and genetic counseling for patients and their families
- GeneReviews ® [Internet] - PubMed
GeneReviews, an international point-of-care resource for busy clinicians, provides clinically relevant and medically actionable information for inherited conditions in a standardized journal-style format, covering diagnosis, management, and genetic counseling for patients and their families
- GeneReviews - Database Commons - National Genomics Data Center
A collection of expert-authored, peer-reviewed disease descriptions on the NCBI Bookshelf that apply genetic testing to the diagnosis, management, and genetic counseling of patients and families with specific inherited conditions
- NLM Office Hours: Bookshelf - National Library of Medicine
On November 30, 2022, Stacy Lathrop from NLM's National Center for Biotechnology Information (NCBI) discussed the use of Bookshelf for accessing technical reports, systematic reviews, clinical guidelines, and reference materials, including the GeneReviews, LactMed, and LiverTox resources, as well as finding information in specialty areas, such
- GNPTAB-Related Disorders - GeneReviews® - NCBI Bookshelf
GNPTAB -related disorders comprise the phenotypes mucolipidosis II (ML II) and mucolipidosis IIIα β (ML IIIα β), and phenotypes intermediate between ML II and ML IIIα β ML II is evident at birth and slowly progressive; death most often occurs in early childhood
- MERRF - GeneReviews® - NCBI Bookshelf - National Center for . . .
A clinical diagnosis of MERRF can be established in a proband with the following four "canonic" features: myoclonus, generalized epilepsy, ataxia, and ragged red fibers (RRF) in the muscle biopsy A molecular diagnosis is established in a proband with suggestive findings and a pathogenic variant in one of the genes associated with MERRF
- Resources for Genetics Professionals — Epigenetic Signature Analysis . . .
An introduction to epigenetic signature analysis and comparison of gene-specific genome-wide methylation analysis and epigenetic modifications to specific regions of the genome
- Refsum Disease - GeneReviews® - NCBI Bookshelf - Universiteit Gent
Refsum disease is characterized by anosmia and early-onset retinitis pigmentosa, which are both universal findings with variable combinations of neuropathy, deafness, ataxia, and ichthyosis Onset of symptoms ranges from age seven months to older than age 50 years
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