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1 current copy number variants associated with neurodevelopmental disease.
2 ntal tissues, and genetic variants linked to neurodevelopmental disease.
3 mposition of primary cilia, known factors in neurodevelopmental disease.
4 hallmarks of Intellectual Disability (ID), a neurodevelopmental disease.
5 rategy for treating DNM1 and related genetic neurodevelopmental disease.
6 nto how mTOR dysregulation may contribute to neurodevelopmental disease.
7 echanism with the potential to contribute to neurodevelopmental disease.
8 the aetiology of human neurodegenerative and neurodevelopmental disease.
9 ast SOD1 familial ALS may be considered as a neurodevelopmental disease.
10 e damaging variation in BRSK2 as a source of neurodevelopmental disease.
11 w genetic and pharmacogenetic biomarkers for neurodevelopmental disease.
12 errant RNA metabolism in the pathogenesis of neurodevelopmental disease.
13 the microbiome may contribute to symptoms of neurodevelopmental disease.
14 nt studies linking complement mutations with neurodevelopmental disease.
15 regulatory network influencing cognition and neurodevelopmental disease.
16                Fragile X syndrome (FXS) is a neurodevelopmental disease.
17 zyme, and establish a role for USP7 in human neurodevelopmental disease.
18 n studying the molecular mechanisms of human neurodevelopmental disease.
19 nctional changes of brain during aging or in neurodevelopmental disease.
20 art disease, craniofacial malformations, and neurodevelopmental disease.
21 impairments may cause brain malformation and neurodevelopmental disease.
22 ontal dysfunction in schizophrenia and other neurodevelopmental disease.
23 eutic targets for KAT6A syndrome and related neurodevelopmental diseases.
24  genes linked to inherited human retinal and neurodevelopmental diseases.
25 al circuit development and are implicated in neurodevelopmental diseases.
26 y of neuropsychiatric, neurodegenerative and neurodevelopmental diseases.
27  on the potential role of SUSD4 mutations in neurodevelopmental diseases.
28 ns for our understanding of neurological and neurodevelopmental diseases.
29 hapes brain development and is implicated in neurodevelopmental diseases.
30 functions may inform strategies for treating neurodevelopmental diseases.
31 ion is linked to the pathogenesis of various neurodevelopmental diseases.
32 le mechanism by which this gene is linked to neurodevelopmental diseases.
33 or discovering candidate lncRNAs involved in neurodevelopmental diseases.
34 therapy in devastating neurodegenerative and neurodevelopmental diseases.
35 odifier genes are frequently associated with neurodevelopmental diseases.
36 at underlying similarities exist among these neurodevelopmental diseases.
37 works of genes associated with cognitive and neurodevelopmental diseases.
38 development and conferring susceptibility to neurodevelopmental diseases.
39 ied in diseases other than cancer, including neurodevelopmental diseases.
40 es are further implicated in ASD and related neurodevelopmental diseases.
41 r handle to investigate circuit disorders in neurodevelopmental diseases.
42 tly enriched in genes and loci implicated in neurodevelopmental diseases.
43 the pathophysiology of neurodegenerative and neurodevelopmental diseases.
44 nt stem cells to model neurodegenerative and neurodevelopmental diseases.
45 involved in global DNA methylation and human neurodevelopmental diseases.
46 ts are implicated in certain psychiatric and neurodevelopmental diseases.
47 f great interest for early onset monogenetic neurodevelopmental diseases.
48 , autoimmune diseases, and neurodegenerative/neurodevelopmental diseases.
49 l, and can they be manipulated to ameliorate neurodevelopmental disease?
50 alized the signature for a rare neurological neurodevelopmental disease, 19q12 autism spectrum disord
51 ctivity are a transdiagnostic key finding in neurodevelopmental diseases, a characterization of imagi
52 de both genetic and biological insights into neurodevelopmental disease and pave the way for further
53  model recapitulates early stages of a human neurodevelopmental disease and represents a promising ce
54 emphasize the involvement of MAN2C1 in human neurodevelopmental disease and the importance of fOS cat
55 ders, the prevalence of somatic mutations in neurodevelopmental disease and the optimal techniques to
56 d with genome instability and is observed in neurodevelopmental diseases and cancers.
57  our understanding of chromatin structure in neurodevelopmental diseases and the substantial research
58 r calcium regulation during the emergence of neurodevelopmental disease, and provide evidence that di
59 s can promote cancer, whereas others promote neurodevelopmental diseases, and why even the same mutat
60 hat disrupt genes associated with congenital neurodevelopmental diseases are poorly understood.
61 ining this balance and implicated in various neurodevelopmental diseases, are generated during embryo
62 olism such as lysosomal storage diseases and neurodevelopmental diseases associated with the mTOR pat
63 eviously unappreciated relationships between neurodevelopmental disease-associated genes in the devel
64 e, we have coupled multiplexed repression of neurodevelopmental disease-associated genes to single-ce
65 oach for the rapid functional elucidation of neurodevelopmental disease-associated genes.
66 urther study to determine their influence on neurodevelopmental disease burden.
67 mon inherited form of primary dystonia, is a neurodevelopmental disease caused by a dominant mutation
68 uestion in a mouse model of DYT1 dystonia, a neurodevelopmental disease caused by a loss-of-function
69 on defect in Timothy syndrome (TS), a severe neurodevelopmental disease caused by a mutation in the L
70 milial dysautonomia (FD) is a rare recessive neurodevelopmental disease caused by a splice mutation i
71              One example is DYT1 dystonia, a neurodevelopmental disease caused by an in-frame deletio
72 the PI3K-mTOR pathway suggests that HME is a neurodevelopmental disease caused by gain-of-function ac
73     Fragile X syndrome (FXS) is an inherited neurodevelopmental disease caused by loss of function of
74 - in the pathophysiology of Rett syndrome, a neurodevelopmental disease caused by mutation of the gen
75              Rett syndrome (RTT) is a severe neurodevelopmental disease caused by mutations in the me
76                                 The X-linked neurodevelopmental diseases CDKL5 deficiency disorder (C
77 nes disrupt this equilibrium, giving rise to neurodevelopmental disease characterized by microcephaly
78 al and epileptic encephalopathies (DEEs) are neurodevelopmental diseases characterized by refractory
79          We identified several families in a neurodevelopmental disease cohort where the proband inhe
80 examined more than 97,000 families from four neurodevelopmental disease cohorts and the UK Biobank to
81            There are few causes of treatable neurodevelopmental diseases described to date.
82 ctrum disorders (ASD) are a group of related neurodevelopmental diseases displaying significant genet
83 emarkable in the severe epilepsies and other neurodevelopmental diseases for which rare, often de nov
84         Our data identify NONO as a possible neurodevelopmental disease gene and highlight the key ro
85 uronal migration, adding new arenas in which neurodevelopmental disease gene mutation could disrupt c
86 for mutations ascertained from patients with neurodevelopmental disease generally, and intellectual d
87 f the CGG repeats were associated with known neurodevelopmental disease genes or with strong candidat
88 l delay and autism to identify 253 candidate neurodevelopmental disease genes with an excess of misse
89                 Reverse phenotyping revealed neurodevelopmental disease in all eight families.
90 OGDHL are pathogenic, leading to a Mendelian neurodevelopmental disease in humans.
91              Further, modeling human genetic neurodevelopmental disease in the mouse has shown how di
92 ernal intake of n-3 PUFAs has been linked to neurodevelopmental diseases in Humans.
93  Autism spectrum disorders (ASD) are complex neurodevelopmental diseases in which different combinati
94 ynthesis is a major underlying cause of many neurodevelopmental diseases including fragile X syndrome
95 rbations of cortical development can lead to neurodevelopmental disease, including autism spectrum di
96 l splicing networks clinically implicated in neurodevelopmental disease, including autism spectrum di
97 sponsible for rearrangements associated with neurodevelopmental disease, including the emergence of n
98 en they exert maximal influence, may lead to neurodevelopmental diseases, including epilepsy.
99 hogenic variants in TRIO are associated with neurodevelopmental diseases, including intellectual disa
100 ltage-gated K(+) channel are associated with neurodevelopmental diseases, indicating an important rol
101 es NPC biogenesis as a process vulnerable to neurodevelopmental disease insults.
102 relevant long-range connection since several neurodevelopmental diseases involve CC defects.
103 y mental disorders and neurodegenerative and neurodevelopmental diseases involve cognitive deficits.
104 r relationship to genes that confer risk for neurodevelopmental disease is unclear.
105 f the CCR4-NOT deadenylase complex linked to neurodevelopmental disease, is essential for cortical de
106 n mutations in ATP8A2 are known to cause the neurodevelopmental disease known as cerebellar ataxia, i
107                                       and in neurodevelopmental diseases like fragile-X syndrome (FXS
108 orders, and allows mechanistic dissection of neurodevelopmental diseases linked to chromatin-remodeli
109  gene, LIS1, is mutated in patients with the neurodevelopmental disease lissencephaly.
110       Chromosome conformation capture at two neurodevelopmental disease loci, 2q14.1 and 16p11.2, rev
111 use autosomal recessive neurodegenerative or neurodevelopmental disease, making yeast Vps13p an impor
112 ion, and may lead to better understanding of neurodevelopmental disease mechanisms.
113 ortical development, which are important for neurodevelopmental disease modeling.
114 elopment in other long-range connections and neurodevelopmental disease models.
115 lly deleterious and suggest that it may be a neurodevelopmental disease modifier.
116 on or deletion of candidates in the field of neurodevelopmental diseases (NDD).
117                                              Neurodevelopmental diseases (NDDs) are notoriously diffi
118 e opportunity to study neurodegenerative and neurodevelopmental diseases of the cerebellum.
119                                 In inherited neurodevelopmental diseases, pathogenic processes unique
120 ostnatal period by activating a well-defined neurodevelopmental disease pathway and that this phenoty
121 ssion, but not of SNORD115, is linked to the neurodevelopmental disease Prader-Willi syndrome.
122 e spectrum of VCP-related disease to include neurodevelopmental disease presenting in childhood.
123 ders of neurotransmitter metabolism are rare neurodevelopmental diseases presenting with movement dis
124 uggest that prenatal infection can act as a "neurodevelopmental disease primer" that is likely releva
125 maturation, which may represent a target for neurodevelopmental disease processes, and a substrate fo
126 length dependent change in expression in the neurodevelopmental disease Rett syndrome (RTT).
127 nal machinery, give rise to the debilitating neurodevelopmental disease Rett syndrome (RTT).
128 esolution in detecting haploinsufficient and neurodevelopmental disease risk genes compared to scores
129 reover, human evolved elements interact with neurodevelopmental disease risk genes, and genes with a
130  genetic patterns in parents contributing to neurodevelopmental disease risk in children.
131 verse paternal life experiences on offspring neurodevelopmental disease risk.
132                                         This neurodevelopmental disease state exhibits neural circuit
133 mming indicating that obesity is primarily a neurodevelopmental disease strongly influenced by nutrit
134 ling progress in understanding the causes of neurodevelopmental diseases such as autism, linking gene
135 ctionally diverse and play critical roles in neurodevelopmental diseases such as Rett syndrome and fr
136            They have also been implicated in neurodevelopmental diseases such as schizophrenia and au
137  rearing as a model for the investigation of neurodevelopmental diseases such as schizophrenia.
138 tome, and the existence of ubiquitin-related neurodevelopmental diseases support a fundamental role o
139              Rett syndrome (RTT) is a severe neurodevelopmental disease that affects approximately 1
140 cing the role of the UBR protein family in a neurodevelopmental disease that differs from previously
141 sis complex (TSC) mice, a PI3K-mTOR model of neurodevelopmental disease that is associated with abnor
142 ations for understanding the pathogenesis of neurodevelopmental diseases that are characterized by so
143 ic acid (GABA) inhibition and involvement in neurodevelopmental disease, the regulatory mechanisms of
144 etween maternal metabolic state and onset of neurodevelopmental diseases, the specific changes that a
145  human brain tissue in neurodegenerative and neurodevelopmental disease there are few similar data fo
146 onsiderable genetic heterogeneity underlying neurodevelopmental diseases, there is compelling evidenc
147 re identified among 4,760 trio probands with neurodevelopmental diseases; this is highly unlikely to
148 t progress in modeling neurodegenerative and neurodevelopmental diseases using induced pluripotent st
149                             Apart from CRSD, neurodevelopmental disease was observed in all affected
150  increased CYFIP1 dosage might predispose to neurodevelopmental disease, we studied the consequence o
151 utations in NARS1 are a significant cause of neurodevelopmental disease, where the mechanism for de n
152 sights into how GABABR variants can initiate neurodevelopmental disease whilst highlighting the trans
153  Autism spectrum disorder (ASD) is a complex neurodevelopmental disease whose underpinning molecular
154 l-regulated protein kinase 2, ERK2), cause a neurodevelopmental disease within the RASopathy phenotyp

 
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