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1 ent, epigenetics, cancer, brain function and hereditary disease.
2 effects on screening among women at risk for hereditary disease.
3 e identification of a gene responsible for a hereditary disease.
4 se of chemotherapy and failure to diagnose a hereditary disease.
5 e it is the only one to be associated with a hereditary disease.
6 has not previously been widely regarded as a hereditary disease.
7 nt retrieval on a collection of abstracts on hereditary diseases.
8 OH events, underlying human cancer and other hereditary diseases.
9 overy of chromosome 13 genes associated with hereditary diseases.
10 en shown to be responsible for about a dozen hereditary diseases.
11 g technology to correct the genetic basis of hereditary diseases.
12 th susceptibility to cancer as well as other hereditary diseases.
13 functions of this channel are known to cause hereditary diseases.
14 ng tools for long-term genetic correction of hereditary diseases.
15 s, the driving forces for carcinogenesis and hereditary diseases.
16 o provides new targeting of CAMs involved in hereditary diseases.
17 ns of the Sac3 gene have been found in human hereditary diseases.
18 eveloping treatments for MJD, HD and related hereditary diseases.
19  and coding region mutations can cause human hereditary diseases.
20 esis have been associated with several human hereditary diseases.
21 gene expression in patients with acquired or hereditary diseases.
22 e the population to more than 1000 different hereditary diseases.
23 SLC26A4) are associated with different human hereditary diseases.
24 quantifying the spinal cord abnormalities in hereditary diseases.
25  carcinoma or a variety of cancer-associated hereditary diseases.
26 tudies, cancer diagnostics, and diagnosis of hereditary diseases.
27 han 28.5 million relationships between 7,574 hereditary diseases (96% of OMIM) based on our similarit
28 patients with retinal iron overload from the hereditary disease aceruloplasminemia.
29 cause primary vesicoureteral reflux (VUR), a hereditary disease affecting approximately 1% of pregnan
30 nd patient-specific computational studies of hereditary diseases affecting the red cell cytoskeleton.
31                                              Hereditary diseases affecting the skeleton are heterogen
32 iciency virus, cancer, organ transplants, or hereditary disease (albinism and xeroderma pigmentosum),
33 roup of proteins known to be associated with hereditary diseases allows the detection of key distinct
34 en mapped on the human genome and a group of hereditary diseases among them have thus far proven unsu
35 ng and the fact that its deregulation causes hereditary disease and cancer.
36 e structure reveals the molecular basis of a hereditary disease and represents one of only a few stru
37    Gene delivery is a promising way to treat hereditary diseases and cancer; however, there is little
38  provides insights into the global nature of hereditary diseases and moreover can be used to predict
39 e discovery of the causative genes of common hereditary diseases and their mechanism of action.
40 CD-9-CM codes 740 to 759, plus neoplasms and hereditary diseases) and for birth defects defined as se
41                                              Hereditary diseases, animal models, and cell culture stu
42                                        These hereditary diseases are characterized by genetic anticip
43                                         Many hereditary diseases are characterized by region-specific
44 onsible for spinocerebellar ataxia type 1, a hereditary disease associated with protein aggregation a
45 utations supported by functional evidence or hereditary disease association to be classified either a
46  candidate genes for HPCX and multiple other hereditary diseases at Xq26.3-q27.3.
47  are some of the major manifestations of the hereditary disease ataxia telangiectasia, which is cause
48 ancer are the characteristic features of the hereditary disease ataxia-telangiectasia (A-T), which is
49            Cockayne syndrome (CS) is a human hereditary disease belonging to the group of segmental p
50 seizures and developmental delay (MCSZ) is a hereditary disease caused by mutations in polynucleotide
51       Paramyotonia congenita (PC) is a human hereditary disease caused by one or more amino acid subs
52 ion and fusion, as evidenced not only by the hereditary diseases caused by mutations in fission/fusio
53 mann-Pick disease type C2 (NP-C2) is a fatal hereditary disease characterized by accumulation of low-
54 iple intestinal atresias (CID-MIA) is a rare hereditary disease characterized by intestinal obstructi
55 tients with the basal-cell nevus syndrome, a hereditary disease characterized by multiple BCCs and by
56 s of function of the RecQ helicase WRN, is a hereditary disease characterized by premature aging and
57                                          The hereditary disease Cockayne syndrome (CS) is a complex c
58 A and CSB, which are implicated in the human hereditary disease Cockayne syndrome, may have a role in
59                               Psoriasis is a hereditary disease elicited by chronic activation of cut
60 e genome for linkage of markers with various hereditary diseases facilitates identification of affect
61                                    The human hereditary disease Fanconi anemia leads to severe sympto
62                    Fanconi anaemia (FA) is a hereditary disease featuring hypersensitivity to DNA cro
63 dered the species a powerful model for human hereditary diseases, for infectious disease agents, for
64        The same year, our father created the Hereditary Disease Foundation (HDF), dedicated to findin
65  sporadic, in rare cases, individuals have a hereditary disease, Gorlin syndrome, that predisposes to
66 east cancers, but samples from patients with hereditary disease had more frequent mutations than did
67 BGC) in human populations and its effects on hereditary disease have yet to be assessed on a genomic
68                            A number of human hereditary diseases have been associated with the instab
69 erroportin cause a form of the iron overload hereditary disease hemochromatosis.
70  detection of genes likely to be involved in hereditary disease in the human genome.
71  (ADPKD) is the most common life-threatening hereditary disease in the USA.
72 eal dystrophy (GCD) is an autosomal dominant hereditary disease in which multiple discrete and irregu
73 revailing cause of dominant optic atrophy, a hereditary disease in which progressive degeneration of
74  (MCD; MIM 217800) is an autosomal recessive hereditary disease in which progressive punctate opaciti
75          Cystic fibrosis (CF) is a childhood hereditary disease in which the most common mutant form
76  genomic rearrangements are common causes of hereditary diseases including hereditary nonpolyposis co
77  plays a fundamental role in cancer and some hereditary diseases, including Beckwith-Wiedemann syndro
78 units represent candidate genes for multiple hereditary diseases, including HPC1.
79                                         This hereditary disease is associated with chromosomal instab
80      Arrhythmogenic cardiomyopathy (AC) is a hereditary disease leading to sudden cardiac death or he
81                                      Several hereditary disease loci have been genetically mapped to
82 ble involvement in the pathogenesis of other hereditary diseases mapped to chromosome 10q24.
83 tants in these regions that give rise to the hereditary disease methemoglobinemia.
84 omas occurring spontaneously or as part of a hereditary disease neurofibromatosis type 2.
85 ip dysplasia remains one of the most serious hereditary diseases occurring in dogs despite long-stand
86  the instability of large triplet repeats in hereditary diseases occurs by a mechanism different from
87 rythropoietic protoporphyria (EPP) is a rare hereditary disease of heme biosynthesis that manifests a
88 cently isolated genes defective in the human hereditary diseases of copper metabolism, Menkes syndrom
89 ently, isolated genes defective in the human hereditary diseases of copper metabolism, namely Menkes
90 rophy (SMA) is one of the most common severe hereditary diseases of infancy and early childhood in No
91 ene-based approach to identify genes causing hereditary diseases of the retina such as retinitis pigm
92                        An awareness of these hereditary disease pathways to renal disease is essentia
93 Genetic variations predispose individuals to hereditary diseases, play important role in the developm
94                                     FAP is a hereditary disease predisposing to cancer in multiple or
95 sm for the dominant inheritance pattern of a hereditary disease resulting from mutation of the DLX3 g
96 er, the failure to warn family members about hereditary disease risks has already resulted in 3 lawsu
97 whereby gBGC causes substantial increases in hereditary disease risks.
98          Although not generally considered a hereditary disease, striking ethnic variation in prevale
99 uccessfully used in clinical trials to treat hereditary diseases such as haemophilia B, and have been
100  of NER proteins, like DDB and CSA, leads to hereditary diseases such as xeroderma pigmentosum (XP) a
101 al framework for how to deal with identified hereditary disease susceptibilities and how to return th
102 us malignant melanoma in Sinclair swine is a hereditary disease that develops in utero or during the
103 age syndrome (NBS) is an autosomal recessive hereditary disease that shares some common defects with
104 uvenile retinitis pigmentosa (RP) are severe hereditary diseases that causes visual impairment in inf
105 and ligands have been linked to a variety of hereditary diseases that impact both the heart and the v
106 rimary disease severity (onset in infancy or hereditary disease), the presence of comorbidities or se
107 however, in muscle fibers from patients with hereditary disease there was no congophilia.
108                 Methemoglobinemia, the first hereditary disease to be identified that involved an enz
109    Although sickle cell anemia was the first hereditary disease to be understood at the molecular lev
110 large amounts by patients suffering from the hereditary disease type I tyrosinaemia and its potent in
111                                              Hereditary disease was associated with 56% of bilateral
112 een for defects in the gene in patients with hereditary disease, we determined its genomic organizati
113           Additionally, 6% more abstracts on hereditary diseases were retrieved, and this percentage
114 Hermansky-Pudlak syndrome is an example of a hereditary disease whereby impaired PDI secretion contri
115 ricular tachycardia (CPVT) is a lethal, rare hereditary disease with an estimated prevalence of 1:10
116 titative magnetic resonance imaging in other hereditary diseases with spinal cord involvement.
117 ion that included the gene implicated in the hereditary disease xeroderma pigmentosum (XPG, also know
118 nding protein, a protein associated with the hereditary disease xeroderma pigmentosum group E, and to
119  the DDB2 gene have been correlated with the hereditary disease xeroderma pigmentosum group E.
120 (p48), in nucleotide excision repair and the hereditary disease xeroderma pigmentosum.

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