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排序方式: 共有235条查询结果,搜索用时 46 毫秒
231.
Gian Pal MD MS Lola Cook MS CGC Jeanine Schulze MS CGC Jennifer Verbrugge MS CGC LGC Roy N. Alcalay MD MS Marcelo Merello MD PhD Carolyn M. Sue MD Soraya Bardien PhD Vincenzo Bonifati MD PhD Sun Ju Chung MD PhD Tatiana Foroud PhD Emilia Gatto MD FAAN Anne Hall JD Nobutaka Hattori MD PhD Tim Lynch FRCP Karen Marder MD MPH Deborah Mascalzoni PhD Ivana Novaković MD PhD Avner Thaler MD PhD Deborah Raymond MSc Mehri Salari MD Ali Shalash MD Oksana Suchowersky MD Niccolò E. Mencacci MD PhD Tanya Simuni MD Rachel Saunders-Pullman MD MPH Christine Klein MD 《Movement disorders》2023,38(8):1384-1396
Genetic testing for persons with Parkinson's disease is becoming increasingly common. Significant gains have been made regarding genetic testing methods, and testing is becoming more readily available in clinical, research, and direct-to-consumer settings. Although the potential utility of clinical testing is expanding, there are currently no proven gene-targeted therapies, but clinical trials are underway. Furthermore, genetic testing practices vary widely, as do knowledge and attitudes of relevant stakeholders. The specter of testing mandates financial, ethical, and physician engagement, and there is a need for guidelines to help navigate the myriad of challenges. However, to develop guidelines, gaps and controversies need to be clearly identified and analyzed. To this end, we first reviewed recent literature and subsequently identified gaps and controversies, some of which were partially addressed in the literature, but many of which are not well delineated or researched. Key gaps and controversies include: (1) Is genetic testing appropriate in symptomatic and asymptomatic individuals without medical actionability? (2) How, if at all, should testing vary based on ethnicity? (3) What are the long-term outcomes of consumer- and research-based genetic testing in presymptomatic PD? (4) What resources are needed for clinical genetic testing, and how is this impacted by models of care and cost-benefit considerations? Addressing these issues will help facilitate the development of consensus and guidelines regarding the approach and access to genetic testing and counseling. This is also needed to guide a multidisciplinary approach that accounts for cultural, geographic, and socioeconomic factors in developing testing guidelines. © 2023 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society. 相似文献
232.
Rachel Saunders-Pullman MD MPH MS Deborah Raymond MS Roberto A. Ortega MS Ali Shalash MD Emilia Gatto MD Mehri Salari MD Maggie Markgraf BS Roy N. Alcalay MD MS Deborah Mascalzoni PhD Niccolò E. Mencacci MD PhD Vincenzo Bonifati MD PhD Marcelo Merello MD PhD Sun Ju Chung MD PhD Ivana Novakovic MD PhD Soraya Bardien PhD Gian Pal MD MS Anne Hall JD Nobutaka Hattori MD PhD Timothy Lynch MD Avner Thaler MD PhD Carolyn M. Sue MD Tatiana Foroud PhD Jennifer Verbrugge MS Jeanine Schulze MS Lola Cook MS Karen Marder MD MPH Oksana Suchowersky MD Christine Klein MD Tatyana Simuni MD 《Movement disorders》2023,38(8):1527-1535
233.
Zahra Aminzade Sepand Tehrani Fateh Reza Jalili Khoshnoud Farzad Ashrafi Mehri Salari 《Clinical Case Reports》2021,9(12)
A 32‐year‐old gentleman with refractory Gilles de la Tourette syndrome went on a DBS procedure on anteromedial globus pallidus internus. At the most suitable adjustment, the OCD component of his disease improved almost completely while his tics remained unchanged which was in contrast with other previous studies. Moreover, variations in symptoms were seen in response to different adjustments. We discuss that these variations and fluctuations in the therapeutic outcomes may be due to differences in physiological conditions of tic‐ or OCD‐specified pathways and areas including distinct stimulation threshold and occurrence of neuroplasticity in neural circuits which may determine the responsiveness of each pathway or circuit to a specific stimulus. At last, we suggest that pathways and circuits should be targeted for DBS rather than single components; as these components may be involved in multiple pathways, related to different pathophysiological states. 相似文献
234.
Mehri Salari Masoud Etemadifar Leila Dargahi Neda Valian Malihe Rezaee 《Clinical Case Reports》2022,10(3)
Here, we introduced a patient with Mn‐induced parkinsonism who was responsive to intranasal insulin, and his parkinsonism and dystonia responded to this treatment. 相似文献
235.
Aceruloplasminemia is an autosomal recessive disease, caused by systemic iron accumulation due to mutations in the Ceruloplasmin gene. We report two Iranian siblings who have been diagnosed with aceruloplasminemia. Although dementia has not been published as the first neurological feature, one of our cases was presented with pure dementia. 相似文献