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1 natal diagnosis and carrier detection of the hereditary disorder.
2 otide repeat instability underlies >20 human hereditary disorders.
3 ereas iron excess is usually associated with hereditary disorders.
4 he site of well-characterised autoimmune and hereditary disorders.
5 se significant mortality, and >20% relate to hereditary disorders.
6 ith polyclonal hematopoiesis might represent hereditary disorders.
7 fecta (MIM 301200), a phenotypically diverse hereditary disorder affecting enamel development, is cau
8 utation is associated with developmental and hereditary disorders, aging, and cancer.
9                                        These hereditary disorders are known collectively as frontotem
10 associated with cancer and developmental and hereditary disorders, as well as biologic processes such
11 omal dominant dyskeratosis congenita, a rare hereditary disorder associated with premature death from
12                  Ciliopathies are a group of hereditary disorders associated with defects in cilia st
13 curring mutations in alphaTTP that cause the hereditary disorder ataxia with vitamin E deficiency dim
14  in human cancer; (b) we have found that the hereditary disorder Beckwith-Wiedemann syndrome, which p
15                                A category of hereditary disorders called the phakomatoses provide a p
16 s opens new perspectives for gene therapy of hereditary disorders, cardiovascular diseases, and cance
17                                        Other hereditary disorders cause hemodynamic process that resu
18 of human maple syrup urine disease (MSUD), a hereditary disorder caused by defects in BCKD activity.
19 ndrome is a premature aging and cancer-prone hereditary disorder caused by deficiency of the WRN prot
20  atrophy is an untreatable potentially fatal hereditary disorder caused by loss-of-function mutations
21 rotic plaques, but it can also manifest as a hereditary disorder caused by mutations of the APOA1 gen
22        Congenital motor nystagmus (CMN) is a hereditary disorder characterized by bilateral ocular os
23 derived from patients with Fanconi anemia, a hereditary disorder characterized by bone marrow failure
24 lasia type 1 (MEN1) is an autosomal dominant hereditary disorder characterized by multiple parathyroi
25 ne neoplasia type 1 is an autosomal dominant hereditary disorder characterized by multiple parathyroi
26 h Beckwith-Wiedemann syndrome, a pleiotropic hereditary disorder characterized by overgrowth and pred
27 ity of Cockayne syndrome (CS), a devastating hereditary disorder characterized by physical impairment
28                     Bloom syndrome (BS) is a hereditary disorder characterized by pre- and postnatal
29              Usher syndrome (USH) is a human hereditary disorder characterized by profound congenital
30                         Werner syndrome is a hereditary disorder characterized by the early onset of
31 inant polycystic kidney disease (ADPKD) is a hereditary disorder characterized by the progressive enl
32 s of individuals with Cockayne's syndrome, a hereditary disorder characterized by transcription-coupl
33 torage diseases are a heterogeneous group of hereditary disorders characterized by a deficiency in ly
34 genital dyserythropoietic anemias (CDAs) are hereditary disorders characterized by distinct morpholog
35          Congenital muscular dystrophies are hereditary disorders characterized by hypotonia and weak
36                   The defective gene in this hereditary disorder, CLN2, encodes a recently identified
37 d epidemiologists often observe that certain hereditary disorders cooccur in individual patients sign
38 he previous decade, there remain a number of hereditary disorders for which a causative gene has yet
39        Single-gene disorders may cause rare, hereditary disorders for which stroke is a primary manif
40                                    Nearly 30 hereditary disorders in humans result from an increase i
41              Expansions of DNA repeats cause hereditary disorders in humans.
42 e pathway can cause a variety of somatic and hereditary disorders in humans.
43 ns of DNA repeats are implicated in numerous hereditary disorders in humans.
44 ions for genetic counseling of families with hereditary disorders, information regarding the incidenc
45 ditary lymphedema, and LD is only the second hereditary disorder known to be caused by a mutation in
46                         Alport syndrome is a hereditary disorder of basement membranes especially aff
47           Canavan's disease (CD) is a fatal, hereditary disorder of CNS development that has been lin
48     Chronic granulomatous disease (CGD) is a hereditary disorder of host defense due to absent or dec
49  slow-channel myasthenic syndrome (SCS) is a hereditary disorder of the acetylcholine receptor (AChR)
50 mann-Pick type C2 disease (NP-C2) is a fatal hereditary disorder of unknown etiology characterized by
51 recently have been shown to underlie several hereditary disorders of bone development, with specific
52      Knowledge of the genetic basis of these hereditary disorders of phosphate homeostasis and studie
53                   In human megakaryopoiesis, hereditary disorders of platelet production have confirm
54 tments of demyelinating disease, stroke, and hereditary disorders of the central nervous system.
55                     This model proposes that hereditary disorders of the epigenetic apparatus lead to
56  pigmentosa (RP) is a heterogeneous group of hereditary disorders of the retina caused by mutation in
57 d oocyte-derived mRNA, and define a group of hereditary disorders plausibly modulated by dietary vita
58                   Genetic studies of complex hereditary disorders require for their mapping the deter
59 nfected RBCs (Pf-RBCs) and defective RBCs in hereditary disorders, such as spherocytosis and elliptoc
60 olycystic kidney disease (ADPKD) is a common hereditary disorder that accounts for 8-10% of end stage
61               Waardenburg syndrome (WS) is a hereditary disorder that causes hypopigmentation and hea
62 reakage syndrome, a rare autosomal recessive hereditary disorder that imparts an increased predisposi
63               Androgenetic alopecia (AGA), a hereditary disorder that involves the progressive thinni
64 s function is impaired in Alport syndrome, a hereditary disorder that is caused by mutations in the g
65 h genetic diseases which affect the eyelids, hereditary disorders that affect the lacrimal system are
66 s, a heterogenous group of neurodegenerative hereditary disorders that include chorea-acanthocytosis
67 tein 32 (TRIM32) are responsible for several hereditary disorders that include limb girdle muscular d
68 ing h-BAG1 to 9p12, a region associated with hereditary disorders that may involve developmental dysr
69 re for identifying loci associated with rare hereditary disorders using Bayesian model comparison.
70       Paramyotonia congenita (PC) is a human hereditary disorder wherein missense mutations in the sk
71   Retinal dystrophy (RD) is a broad group of hereditary disorders with heterogeneous genotypes and ph
72 re analysis of possible association of human hereditary disorders with mutations in LHX5.
73 also accompany the excision repair-defective hereditary disorder xeroderma pigmentosum (XP) from gene

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