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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
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.
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
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
40 CD-9-CM codes 740 to 759, plus neoplasms and hereditary diseases) and for birth defects defined as se
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
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
50 seizures and developmental delay (MCSZ) is a hereditary disease caused by mutations in polynucleotide
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
58 A and CSB, which are implicated in the human hereditary disease Cockayne syndrome, may have a role in
60 e genome for linkage of markers with various hereditary diseases facilitates identification of affect
63 dered the species a powerful model for human hereditary diseases, for infectious disease agents, for
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
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
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
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
93 Genetic variations predispose individuals to hereditary diseases, play important role in the developm
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
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
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
112 een for defects in the gene in patients with hereditary disease, we determined its genomic organizati
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
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
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