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  1. www.ncbi.nlm.nih.gov › books › NBK1116GeneReviews® - NCBI Bookshelf

    30 wrz 2010 · 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.

  2. pubmed.ncbi.nlm.nih.gov › 20301295GeneReviews ® [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.

  3. genereviews.chard.org.cn › paper › index中文版 GeneReviews - 中国罕见病服务平台

    GeneReviews, 是 一个国际性的资源平台，通过期刊文章的形式，为繁忙的临床医生提供遗传相关疾病的临床知识与操作指 导，其内容涉及疾病诊断、管理以及针对患者的 遗传咨询 等方面。 GeneReviews 的 每一章内容均由相关领域的专家撰写，并在出版前进行了细致的修订与 同行评议。 GeneReviews 的章节包括两种：针对单一 基因 和 表型 叙述的章节（约 95%）或是对常见疾病遗传学病因的概述章节（如耳聋及听力丧失、阿兹海默病等）（约 5%）。 为 了保证 GeneReviews 的时效性及可操作性，每个章节的内容会每2-4年（或根据实际需要）进 行 更 新，更新由相应章节的作者在 GeneReviews 编辑 的协调 下进行。

  4. europepmc.org › books › nGeneReviews - Europe PMC

    11 sie 2022 · GeneReviews ® Margaret P Adam, Editor-in-Chief; Senior Editors: David B Everman, Ghayda M Mirzaa, Roberta A Pagon, and Stephanie E Wallace. Molecular Genetics: Lora JH Bean and Karen W Gripp. Anne Amemiya, Genetic Counseling.

  5. www.ncbi.nlm.nih.gov › books › NBK1109Neurofibromatosis 1 - GeneReviews® - NCBI Bookshelf

    2 paź 1998 · Neurofibromas are benign Schwann cell tumors that can affect virtually any nerve in the body [Brena et al 2020, Serra et al 2020, Ozarslan et al 2021]. Cutaneous neurofibromas are discrete, well-circumscribed masses, usually ranging in size from 1-2 mm to a few centimeters.

  6. www.ncbi.nlm.nih.gov › books › NBK1161Alzheimer Disease Overview - GeneReviews® - NCBI Bookshelf

    23 paź 1998 · Clinical Characteristics of Alzheimer Disease. Alzheimer disease (AD) is characterized by dementia that typically begins with subtle and poorly recognized failure of memory (often called mild cognitive impairment or MCI) and slowly becomes more severe and, eventually, incapacitating.

  7. ncbiinsights.ncbi.nlm.nih.gov › 2019/08/19 › do-you-know-genereviewsHow well do you know GeneReviews®? - NCBI Insights

    19 sie 2019 · How well do you know GeneReviews®? You may know . . . We offer expert-authored, peer-reviewed chapters on more than 750 genetic disorders. Our standardized format enables busy clinicians to readily find the information they need. Molecular genetic testing strategies are presented in the context of clinical care and genetic counseling implications.