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1 The TEMPI syndrome is a rare and acquired disorder characterized by 5 salient features, which compose i
2 drome (BBSOAS) has been identified as an autosomal-dominant disorder characterized by a complex neurological phenotype, w
3 ng from non-ketotic hyperglycinemia (NKH), a neurometabolic disorder characterized by accumulation of excess glycine.
4 yperactivity disorder (ADHD) is a common neurodevelopmental disorder characterized by age-inappropriate symptoms of inatt
5 Asthma is a complicated chronic inflammatory disorder characterized by airway inflammation and bronchial h
6 ug-resistant focal epilepsy is a large-scale brain networks disorder characterized by altered spatiotemporal patterns of
7 ation is thought to have a pathogenetic role in epilepsy, a disorder characterized by an imbalance between excitation/inh
8 Immune thrombocytopenia (ITP) is an acquired bleeding disorder characterized by antibody-mediated platelet destruct
9 amilial hyperkalemic hypertension (FHHt), a rare, inherited disorder characterized by arterial hypertension and hyperkale
10 ic-variegated aneuploidy (MVA) syndrome is a rare childhood disorder characterized by biallelic BUBR1, CEP57, or TRIP13 a
11 Neurofibromatosis type 2 (NF2) is an inherited disorder characterized by bilateral vestibular schwannomas (V
12 Alagille syndrome (ALGS) is a multisystem developmental disorder characterized by bile duct (BD) paucity, caused prim
13 Niemann-Pick type C (NPC) disease is a lysosomal storage disorder characterized by cholesterol accumulation caused by
15 Noonan syndrome (NS) is a multisystemic developmental disorder characterized by common, clinically variable symptom
17 Duchenne muscular dystrophy (DMD) is a fatal muscle disorder characterized by cycles of degeneration and regenera
18 Bipolar disorder (BD) is a highly heritable psychiatric disorder characterized by episodes of manic and depressed moo
19 Mutations in LPL cause a rare but debilitating disorder characterized by excessive plasma triglyceride level
20 Bipolar disorder is a lifelong mood disorder characterized by extreme mood swings between mania a
21 Light chain (LC) deposition disease (LCDD) is a rare disorder characterized by glomerular and peritubular amorphou
22 Severe aplastic anemia (SAA) is a rare disorder characterized by hypoplastic bone marrow and progres
24 Autism is a clinically heterogeneous neurodevelopmental disorder characterized by impaired social interactions, restr
26 Inflammatory bowel disease (IBD) is a chronic disorder characterized by inflammation of the gastrointestina
28 Type 2 Diabetes mellitus (T2DM) is a disorder characterized by insulin resistance and impaired glu
29 variants in NOVA2 affected with a severe neurodevelopmental disorder characterized by intellectual disability (ID), motor
30 ss-of-function SYNGAP1 mutations cause a neurodevelopmental disorder characterized by intellectual disability and epileps
31 cted individuals demonstrated a variable neurodevelopmental disorder characterized by mild intellectual disability, seizu
33 sease (LD) is a genetic and fatal form of neurodegenerative disorder characterized by myoclonic epilepsy and cognitive de
34 on of the same gene leads to SHANK3 duplication syndrome, a disorder characterized by neuropsychiatric phenotypes includi
36 Frontotemporal dementia (FTD) is a common neurogenerative disorder characterized by progressive degeneration in the fro
37 e SOD1-G93A mouse model of amyotrophic lateral sclerosis, a disorder characterized by progressive motoneuronal loss; howe
38 ild type (WT) and col4alpha5 knockout AS mice, a hereditary disorder characterized by progressive renal failure.
39 niscent of human ocular motor apraxia, a neurodevelopmental disorder characterized by reduced saccade amplitude and gaze
40 ta-epiphyseal dysplasia (SMED), a rare, autosomal recessive disorder characterized by short stature, short limbs, and cra
41 Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by social communication deficits and o
44 n DKC1, NOP10, or NHP2 cause dyskeratosis congenita (DC), a disorder characterized by telomere attrition.
45 an increasingly prevalent, organ-specific, immune-mediated disorder characterized by the destruction of gastric parietal
46 Osteogenesis imperfecta (OI) is a skeletal disorder characterized by the impaired synthesis of type I co
47 Tourette syndrome (TS) is a neuropsychiatric disorder characterized by the occurrence of vocal and motor t
48 Familial hemiplegic migraine is an episodic neurological disorder characterized by transient sensory and motor symptom
49 mplex (TSC) is a rare autosomal dominant neurodevelopmental disorder characterized by variable expressivity.
50 Congenital scoliosis (CS) is a complex genetic disorder characterized by vertebral malformations.