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排序方式: 共有125条查询结果,搜索用时 15 毫秒
121.
122.
Anwar Baban Rachele Adorisio Bernadette Corica Cristiano Rizzo Federica Calì Michela Semeraro Roberta Taurisano Monia Magliozzi Rosalba Carrozzo Francesco Parisi Bruno Dallapiccola Frédéric M. Vaz Fabrizio Drago Carlo Dionisi‐Vici 《American journal of medical genetics. Part A》2020,182(1):64-70
Infantile onset cardiomyopathies are highly heterogeneous with several phenocopies compared with adult cardiomyopathies. Multidisciplinary management is essential in determining the underlying etiology in children's cardiomyopathy. Elevated urinary excretion of 3‐methylglutaconic acid (3‐MGA) is a useful tool in identifying the etiology in some metabolic cardiomyopathy. Here, we report the delayed appearance of 3‐MGA‐uria, between 6 and 18 months in three patients (out of 100 childhood onset cardiomyopathy) with neonatal onset cardiomyopathy, secondary to TMEM70 mutations and TAZ mutations (Barth syndrome), in whom extensive metabolic investigations, performed in the first weeks of life, did not display 3‐MGA‐uria. Serial retrospective evaluations showed full characteristic features of TMEM70 and TAZ mutations (Barth syndrome) in these three patients, including a clearly abnormal monolysocardiolipin/cardiolipin ratio in the two Barth syndrome patients. Serially repeated metabolic investigations finally discovered the 3‐MGA‐uria biomarker in all three patients between the age of 6 and 18 months. Our observation provides novel insights into the temporal appearance of 3‐MGA‐uria in TMEM70 and TAZ mutations (Barth syndrome) and focus the importance of multidisciplinary management and careful evaluation of family history and red flag signs for phenocopies in infantile onset cardiomyopathies. 相似文献
123.
Jirko Kühnisch Christopher Herbst Nadya Al-Wakeel-Marquard Josephine Dartsch Manuel Holtgrewe Anwar Baban Giulia Mearini Juliane Hardt Konstantinos Kolokotronis Brenda Gerull Lucie Carrier Dieter Beule Stephan Schubert Daniel Messroghli Franziska Degener Felix Berger Sabine Klaassen 《Clinical genetics》2019,96(6):549-559
124.
Silvia Morlino Viola Alesi Federica Calì Francesca Romana Lepri Aurelio Secinaro Paola Grammatico Antonio Novelli Fabrizio Drago Marco Castori Anwar Baban 《American journal of medical genetics. Part A》2019,179(1):104-112
Recessive variants in LTBP2 are associated with eye‐restricted phenotypes including (a) primary congenital glaucoma and (b) microspherophakia/megalocornea and ectopia lentis with/without secondary glaucoma. Nosology of LTBP2 pathology in humans is apparently in contrast with the consolidated evidence of a wide expression of this gene in the developing embryo. Accordingly, in previously published patients with LTBP2‐related eye disease, additional extraocular findings have been occasionally reported and include, among others, high‐arched palate, tall stature, and variable cardiac involvement. Anyway, no emphasis was put on such systemic manifestations. Here, we report two unrelated Roma/Gypsy patients first ascertained for a multisystem disorder mainly characterized by primary congenital glaucoma, complex congenital heart defect, tall stature, long fingers, skin striae and dystrophic scarring, and resembling Marfan syndrome. Heart involvement was severe with polyvalvular heart dysplasia in one, and transposition of great arteries, thoracic arterial tortuosity, polyvalvular heart dysplasia, and neo‐aortic root dilatation in the other. Both patients were homozygous for the recurrent c.895C>T[p.(R299X)] variant, typically found in individuals of Roma/Gypsy descent with an eye‐restricted phenotype. Our findings point out LTBP2 as responsible of a systemic phenotype coherent with the community of syndromes related to anomalies in genes involved in the TGFβ‐pathway. Among these disorders, LTBP2‐related systemic disease emerges as a distinct condition with expanding prognostic implications and autosomal recessive inheritance. 相似文献
125.
Viola Alesi Sara Loddo Federica Calì Valeria Orlando Silvia Genovese Daniele Ferretti Chiara Calacci Giusy Calvieri Roberto Falasca Lucia Ulgheri Fabrizio Drago Bruno Dallapiccola Anwar Baban Antonio Novelli 《American journal of medical genetics. Part A》2019,179(8):1615-1621
Only a few individuals with 12q15 deletion have been described, presenting with a disorder characterized by learning disability, developmental delay, nasal speech, and hypothyroidism. The smallest region of overlap for this syndrome was included in a genomic segment spanning CNOT2, KCNMB4, and PTPRB genes. We report on an additional patient harboring a 12q15 microdeletion encompassing only part of CNOT2 gene, presenting with a spectrum of clinical features overlapping the 12q15 deletion syndrome phenotype. We propose CNOT2 as the phenocritical gene for 12q15 deletion syndrome and its haploinsufficiency being associated with an autosomal dominant disorder, presenting with developmental delay, hypotonia, feeding problems, learning difficulties, nasal speech, skeletal anomalies, and facial dysmorphisms. 相似文献