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排序方式: 共有79条查询结果,搜索用时 31 毫秒
1.
Rabia Faridi Rizwan Yousaf Shoujun Gu Sayaka Inagaki Amy E. Turriff Keith Pelstring Bin Guan Amelia Naik Andrew J. Griffith Samuel Mawuli Adadey Elvis Twumasi Aboagye Gordon A. Awandare Robert J. Morell Ekaterini Tsilou Amanda G. Noyes Laura A. G. Sulmonte Ambroise Wonkam Isabelle Schrauwen Suzanne M. Leal Hela Azaiez Carmen C. Brewer Sheikh Riazuddin Robert B. Hufnagel Michael Hoa Wadih M. Zein J. Karl de Dios Thomas B. Friedman 《Clinical genetics》2023,103(6):699-703
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J M Old S N Khan I Verma S Fucharoen M Kleanthous P Ioannou N Kotea C Fisher S Riazuddin R Saxena P Winichagoon K Kyriacou F Al-Quobaili B Khan 《Hemoglobin》2001,25(4):397-407
The spectrum of the beta-thalassemia mutations of Thailand, Pakistan, India, Sri Lanka, Mauritius and Syria has been further characterized by a multi-center study of 1,235 transfusion-dependent patients, and the mutations discovered used to assess the fidelity of a simple diagnostic strategy. A total of 44 beta-thalassemia mutations were identified either by allele-specific oligonucleotide hybridization, amplification with allele-specific primers, or DNA sequencing of amplified product. The results confirm and extend earlier findings for Thailand, Pakistan, India, Mauritius and Syria. This is the first detailed report of the spectrum of mutations for Sri Lanka. Two novel mutations were identified, codon 55 (-A) and IVS-I-129 (A-->C), both found in Sri Lankan patients. Two beta-thalassemia mutations were found to coexist in one beta-globin gene: Sri Lankan patients homozygous for the beta0 codon 16 (-C) frameshift were also homozygous for the beta+ codon 10 (C-->A) mutation. Studies of Sri Lankan, Pakistani, and Indian carriers suggest the codon 10 (C-->A) mutation is just a rare polymorphism on an ancestral allele, on which the beta0 codon 16 (-C) mutation has arisen. Each country was found to have only a few common mutations accounting for 70% or more of the beta-thalassemia alleles. A panel of primers to diagnose the majority of the mutations by the amplification refractory mutation system was developed, enabling a simple molecular diagnostic strategy to be introduced for each country participating in the multi-center study. 相似文献
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This study investigated the potential of bone-marrow stromal cell transplantation for cell replacement therapy in the cochlea. Bone-marrow stromal cells labeled with enhanced green fluorescent protein were injected into the perilymphatic space of normal cochleae in mice. Histological analysis 2 weeks after transplantation demonstrated that transplanted cells settled within the cochlear tissues, especially in the spiral ligament and the spiral limbus, although most transplants were located in the perilymphatic space. Some of the transplanted cells expressed the cochlear gap-junction protein connexin 26. These findings indicate the potential of bone-marrow stromal cells for delivering therapeutic molecules and for the restoration of cochlear cells, particularly in the spiral ligament and the spiral limbus. 相似文献
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Ahmed ZM Riazuddin S Khan SN Friedman PL Riazuddin S Friedman TB 《Clinical genetics》2009,75(1):86-91
Usher syndrome (USH) is a hereditary disorder associated with sensorineural hearing impairment, progressive loss of vision attributable to retinitis pigmentosa (RP) and variable vestibular function. Three clinical types have been described with type I (USH1) being the most severe. To date, six USH1 loci have been reported. We ascertained two large Pakistani consanguineous families segregating profound hearing loss, vestibular dysfunction, and RP, the defining features of USH1. In these families, we excluded linkage of USH to the 11 known USH loci and subsequently performed a genome-wide linkage screen. We found a novel USH1 locus designated USH1H that mapped to chromosome 15q22-23 in a 4.92-cM interval. This locus overlaps the non-syndromic deafness locus DFNB48 raising the possibility that the two disorders may be caused by allelic mutations. 相似文献
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AM Waryah A Rehman ZM Ahmed Z-H Bashir SY Khan AU Zafar S Riazuddin TB Friedman S Riazuddin 《Clinical genetics》2009,76(3):270-275
Autosomal recessive nonsyndromic hearing impairment (ARNSHI) segregating in three unrelated, large consanguineous Pakistani families (PKDF528, PKDF859 and PKDF326) is linked to markers on chromosome 12q14.2-q15. This novel locus is designated DFNB74 . Maximum two-point limit of detection (LOD) scores of 5.6, 5.7 and 2.6 were estimated for markers D 12 S 313, D 12 S 83 and D 12 S 75 at θ = 0 for recessive deafness segregating in these three families. Haplotype analyses identified a critical linkage interval of 5.35 cM (5.36 Mb) defined by D 12 S 329 at 74.58 cM and D 12 S 313 at 79.93 cM. DFNB74 is the second ARNSHI locus mapped to chromosome 12, but the physical intervals do not overlap with one another. A locus contributing to the early onset, rapidly progressing hearing loss of A/J mice ( ahl4 , age-related hearing loss 4) was reported to map to chromosome 10 in a region of conserved synteny to DFNB74 , suggesting that ahl4 and DFNB74 may be due to mutations of the same gene in these two species. 相似文献
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Mohammed R Jimulia T Durve K Bansal M Green M Learmonth D 《Acta orthopaedica Belgica》2008,74(4):472-477
The results of a multi-surgeon, multi-implant series of patellofemoral joint arthroplasties performed over a ten year period are presented. All patellofemoral joint arthroplasties performed from 1997 to 2006 were retrospectively reviewed using case notes, radiographs and clinic appointments until their latest follow-up period. One hundred and one arthroplasties in 91 patients were followed up for an average period of 48 months (range 6-96 months). The average age was 57 years with female patients thrice as common as male patients. There were 5 (5%) complications with 1 deep infection and 4 stiff knees. Thirty five subsequent procedures were performed in 28 patients including arthroscopic debridement in 18, arthroscopic lateral retinacular release in 8, tibial tuberosity transfer in 3, manipulation for stiffness in 2, and revision to total knee arthroplasty in 4 patients (3 for progression of tibiofemoral osteoarthritis and 1 for infection). The necessity of further surgeries in one third of the study group suggests that close follow-up of these patients is needed to address any concerns that can be easily resolved. 相似文献
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Mutations in betaB3-crystallin associated with autosomal recessive cataract in two Pakistani families 总被引:2,自引:0,他引:2
Riazuddin SA Yasmeen A Yao W Sergeev YV Zhang Q Zulfiqar F Riaz A Riazuddin S Hejtmancik JF 《Investigative ophthalmology & visual science》2005,46(6):2100-2106
PURPOSE: To identify the disease locus for autosomal recessive congenital cataracts in consanguineous Pakistani families. METHODS: Two Pakistani families were ascertained, patients were examined, blood samples were collected, and DNA was isolated. A genome-wide scan was performed using >382 polymorphic microsatellite markers on genomic DNA from affected and unaffected family members. Two-point lod scores were calculated, haplotypes were formed by inspection, and candidate genes were sequenced. Real-time quantitative PCR techniques were used to determine the mRNA levels, and molecular modeling was performed to gain a better understanding of the significance of the disease-causing mutation. RESULTS: In the genome-wide scan, maximum lod scores of 2.67 and 2.77 for family 60004 and 2.02 and 2.04 for family 60006 were obtained for markers D22S539 and D22S315, respectively. The linked region, 22.7 cM (10 Mb) flanked by markers D22S420 and D22S1163, contains the beta-crystallin gene cluster including the genes CRYBA4, CRYBB1, CRYBB2, and CRYBB3. Sequencing of these genes showed a G-->C transition in exon 6 of CRYBB3 resulting in a p.G165R change in the betaB3-crystallin protein that cosegregates with the disease in both families. Real-time PCR analysis suggested that betaB3-crystallin mRNA levels approximate those of other betagamma-crystallins. Molecular modeling predicted changes in electrostatic potential that would be expected to reduce the stability of the fourth Greek-key motif, and hence the entire protein, dramatically. CONCLUSIONS: For the first time, a mutation in CRYBB3 is reported in two consanguineous Pakistani families with autosomal recessive congenital cataracts. 相似文献