全文获取类型
收费全文 | 620篇 |
免费 | 56篇 |
国内免费 | 7篇 |
专业分类
耳鼻咽喉 | 1篇 |
儿科学 | 39篇 |
妇产科学 | 3篇 |
基础医学 | 117篇 |
口腔科学 | 18篇 |
临床医学 | 35篇 |
内科学 | 136篇 |
皮肤病学 | 8篇 |
神经病学 | 28篇 |
特种医学 | 79篇 |
外科学 | 64篇 |
综合类 | 63篇 |
预防医学 | 37篇 |
眼科学 | 15篇 |
药学 | 20篇 |
肿瘤学 | 20篇 |
出版年
2023年 | 5篇 |
2022年 | 7篇 |
2021年 | 9篇 |
2020年 | 7篇 |
2019年 | 8篇 |
2018年 | 14篇 |
2017年 | 14篇 |
2016年 | 14篇 |
2015年 | 23篇 |
2014年 | 20篇 |
2013年 | 20篇 |
2012年 | 10篇 |
2011年 | 14篇 |
2010年 | 20篇 |
2009年 | 33篇 |
2008年 | 17篇 |
2007年 | 23篇 |
2006年 | 31篇 |
2005年 | 9篇 |
2004年 | 9篇 |
2003年 | 4篇 |
2002年 | 7篇 |
2001年 | 10篇 |
2000年 | 9篇 |
1999年 | 14篇 |
1998年 | 42篇 |
1997年 | 32篇 |
1996年 | 40篇 |
1995年 | 20篇 |
1994年 | 18篇 |
1993年 | 23篇 |
1992年 | 5篇 |
1991年 | 11篇 |
1990年 | 3篇 |
1989年 | 11篇 |
1988年 | 24篇 |
1987年 | 10篇 |
1986年 | 8篇 |
1985年 | 17篇 |
1984年 | 7篇 |
1983年 | 5篇 |
1982年 | 3篇 |
1981年 | 5篇 |
1980年 | 3篇 |
1977年 | 3篇 |
1976年 | 5篇 |
1975年 | 3篇 |
1908年 | 5篇 |
1905年 | 4篇 |
1903年 | 2篇 |
排序方式: 共有683条查询结果,搜索用时 15 毫秒
1.
2.
3.
4.
5.
6.
7.
8.
Paul Kruszka Tommy Hu Sungkook Hong Rebecca Signer Benjamin Cogné Betrand Isidor Sarah E. Mazzola Jacques C. Giltay Koen L. I. van Gassen Eleina M. England Lynn Pais Charlotte W. Ockeloen Pedro A. Sanchez‐Lara Esther Kinning Darius J. Adams Kayla Treat Wilfredo Torres‐Martinez Maria F. Bedeschi Maria Iascone Stephanie Blaney Oliver Bell Tiong Y. Tan Marie‐Ange Delrue Julie Jurgens Brenda J. Barry Elizabeth C. Engle Sarah K. Savage Nicole Fleischer Julian A. Martinez‐Agosto Kym Boycott Elaine H. Zackai Maximilian Muenke 《American journal of medical genetics. Part A》2019,179(10):2075-2082
Zinc finger protein 462 (ZNF462) is a relatively newly discovered vertebrate specific protein with known critical roles in embryonic development in animal models. Two case reports and a case series study have described the phenotype of 10 individuals with ZNF462 loss of function variants. Herein, we present 14 new individuals with loss of function variants to the previous studies to delineate the syndrome of loss of function in ZNF462. Collectively, these 24 individuals present with recurring phenotypes that define a multiple congenital anomaly syndrome. Most have some form of developmental delay (79%) and a minority has autism spectrum disorder (33%). Characteristic facial features include ptosis (83%), down slanting palpebral fissures (58%), exaggerated Cupid's bow/wide philtrum (54%), and arched eyebrows (50%). Metopic ridging or craniosynostosis was found in a third of study participants and feeding problems in half. Other phenotype characteristics include dysgenesis of the corpus callosum in 25% of individuals, hypotonia in half, and structural heart defects in 21%. Using facial analysis technology, a computer algorithm applying deep learning was able to accurately differentiate individuals with ZNF462 loss of function variants from individuals with Noonan syndrome and healthy controls. In summary, we describe a multiple congenital anomaly syndrome associated with haploinsufficiency of ZNF462 that has distinct clinical characteristics and facial features. 相似文献
9.
Danielle K. Bourque Mireille Cloutier Kristin D. Kernohan Eric Bareke David Grynspan Jean Michaud CareRare Canada Consortium Kym M. Boycott 《American journal of medical genetics. Part A》2019,179(5):813-816
Neu–Laxova syndrome (NLS) is a lethal autosomal recessive microcephaly syndrome associated with intrauterine growth restriction (IUGR) and multiple congenital anomalies. Clinical features include central nervous system malformations, joint contractures, ichthyosis, edema, and dysmorphic facial features. Biallelic pathogenic variants in either the PHGDH or PSAT1 genes have been shown to cause NLS. Using exome sequencing, we aimed to identify the underlying genetic diagnosis in three fetuses (from one family) with prenatal skin edema, severe IUGR, micrognathia, renal anomalies, and arthrogryposis and identified a homozygous c.1A>C (p.Met1?, NM_006623.3) variant in the PHGDH gene. Loss of the translation start codon is a novel genetic mechanism for the development of NLS. Prenatal diagnosis of NLS is challenging and few reports describe the fetal pathology. Fetal neuropathologic examination revealed: delayed brain development, congenital agenesis of the corticospinal tracts, and hypoplasia of the hippocampus, cerebellum and brainstem. Each pregnancy also showed increased nuchal translucency (NT) or cystic hygroma. While NLS is rare, it may be a cause of recurrent increased NT/cystic hygroma. This finding provides further support that cystic hygroma has many different genetic causes and that exome sequencing may shed light on the underlying genetic diagnoses in this group of prenatal patients. 相似文献
10.
Bals-Pratsch M; De Geyter C; Muller T; Frieling U; Lerchl A; Pirke KM; Hanker JP; Becker-Carus C; Nieschlag E 《Human reproduction (Oxford, England)》1997,12(5):896-904
Preliminary data have suggested that female infertility due to corpus
luteum insufficiency may be caused by subclinical hypothyroidism
[exaggerated thyroid-stimulating hormone (TSH) response to thyrotrophin-
releasing hormone (TRH) stimulation]. L-Thyroxine supplementation has been
recommended to achieve pregnancies in subclinical hypothyroid women. This
controlled study was carried out in order to investigate the biochemical
diagnosis of subclinical hypothyroidism as a possible infertility factor.
Five infertile patients (aged 25-36 years) with subclinical hypothyroidism
(n = 4, stimulated TSH >20 microU/ml) or primary hypothyroidism (n = 1)
and five healthy controls (aged 22-39 years) with normal thyroid function
(stimulated TSH <15 microU/ml), regular cycles and no history of
infertility were studied in the early follicular phase. In the pre-study
evaluation, eight of 23 volunteers (34.8%) had to be excluded because of
subclinical hypothyroidism with stimulated TSH values (TSHs) >15
microU/ml. Cycle function of patients and controls was compared by the
method of LH pulse pattern analysis. Therefore blood samples were drawn
every 10 min during a 24 h period. Sleep was recorded from midnight to 7
a.m. Repetition of the TRH tests at the end of the 24 h blood sampling
period confirmed the difference in stimulated TSH values of the two study
groups. Pulse analysis for luteinizing hormone (LH), TSH and prolactin
showed no differences between patients and controls for pulse frequency,
amplitude, height, length, area under curve (AUC) and the 24 h mean. Even
the hypothyroid patient had a normal LH pulse pattern. Additional
measurement of melatonin in pooled sera every 30 min gave the
well-documented diurnal profiles during day and night for both groups.
Patients had significantly higher melatonin values at seven time points
during the night. Peaks for LH, TSH, prolactin and cortisol were correlated
with the sleep stages wake, rapid eye movement, 1 + 2 and 3 + 4. We
concluded that corpus luteum insufficiency in female infertility cannot be
explained by subclinical hypothyroidism and thus should not be treated with
L-thyroxine for fertility reasons.
相似文献