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  1. 30301
    “…Due to the potential relationship of this anomaly with neuronal migration, it would be appropriate to pay attention to OCD symptoms in individuals with CVI and to perform white matter examination on brain imaging. …”
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    Comparison of accidental findings of brain magnetic resonance imaging of patients with obsessive-compulsive disorder and healthy controls
  2. 30302
    “…The prototype was assessed by a fraction of the disease sites developed (8 out of 27), including Aarskog-Scott syndrome, Aniridia, Adams-Oliver syndrome, Cat Eye syndrome, Kabuki syndrome, Leigh syndrome, Peters anomaly, and Rothmund-Thomson syndrome. The editor progress score was used to measure performance for a portion of sites. …”
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    Portal for Families Overcoming Neurodevelopmental Disorders (PFOND): Implementation of a Software Framework for Facilitated Community Website Creation by Nontechnical Volunteers
  3. 30303
    “…BACKGROUND: The c.429_452dup24 of the ARX gene is a rare genetic anomaly, leading to X-Linked Intellectual Disability without brain malformation. …”
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    The c.429_452 duplication of the ARX gene: a unique developmental-model of limb kinetic apraxia
  4. 30304
    “…BACKGROUND: The rearrangements of the 22q11.2 chromosomal region, most frequently deletions and duplications, have been known to be responsible for multiple congenital anomaly disorders. These rearrangements are implicated in syndromes that have some phenotypic resemblances. …”
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    A unique phenotype in a patient with a rare triplication of the 22q11.2 region and new clinical insights of the 22q11.2 microduplication syndrome: a report of two cases
  5. 30305
    “…So, an analysis of a relatively simple and non-invasive diagnostic tool such as an electrocardiogram allows for suspicion of a cardiovascular anomaly in a setting of scarce diagnostic resources.…”
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    The role of electrocardiogram in the diagnosis of dextrocardia with mirror image atrial arrangement and ventricular position in a young adult Nigerian in Ile-Ife: a case report
  6. 30306
    “…BACKGROUND: Bicuspid aortic valve (BAV) is the most common congenital cardiac anomaly. Other aortic valve variants are rare but are associated with an increased incidence of various pathologies of the aortic valve (AV). …”
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    Assessment of aortic valve in regard to its anatomical variants morphology in 2053 patients using 64-slice CT retrospective coronary angiography
  7. 30307
    “…CONCLUSIONS: In conclusion, although rare, holoprosencephaly is the commonest structural anomaly of the brain with a complex and multifactorial etiopathogenesis. …”
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    Semilobar holoprosencephaly in a 12-month-old baby boy born to a primigravida patient with type 1 diabetes mellitus: a case report
  8. 30308
    “…BACKGROUND: Cleft lip and/or palate (CL/P) is a common congenital craniofacial anomaly that may negatively affect an individual’s appearance, health-related quality of life, or speech. …”
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    Translation and cultural adaptation of the CLEFT-Q for use in Colombia, Chile, and Spain
  9. 30309
    “…INTRODUCTION: Ureteropelvic junction obstruction (UPJO) is a common congenital anomaly leading to varying degrees of hydronephrosis (HN), ranging from no apparent effect on the renal function to atrophy. …”
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    Diagnostic accuracy of Onen’s Alternative Grading System combined with Doppler evaluation of ureteral jets as an alternative in the diagnosis of obstructive hydronephrosis in children
  10. 30310
    “…A duplex collecting system is a congenital kidney anomaly with an incidence of 0.8%. A uretero-inguinal hernia involving duplicated ureters has not been previously described in literature. …”
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    A rare case of herniated duplex collecting system causing obstructive uropathy
  11. 30311
    “…In contrast, infant gender and prevalence of fetal macrosomia, fetal anomaly, neonatal asphyxia, and extremely low birth weight were not significantly different between the two groups (all P > 0.05). …”
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    Comparison of general maternal and neonatal conditions and clinical outcomes between embryo transfer and natural conception
  12. 30312
    “…Women were excluded if they had an intrauterine fetal demise, delivered either/both fetuses via cesarean, history of a previous cesarean or a fetus with a congenital anomaly. If a subject met criteria to be included in the study, the next normal singleton vaginal delivery was used as the control subject. …”
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    Duration of the Third Stage of Labor and Estimated Blood Loss in Twin Vaginal Deliveries
  13. 30313
    por Nath, Abhigyan, Leier, André
    Publicado 2020
    “…RESULTS: We used deep autoencoders to investigate the effect of different sampling approaches for non-interacting pairs on the training and the performance of machine learning classifiers. By using the anomaly detection capabilities of deep autoencoders we deduced the effects of different categories of negative samples on the training of learning algorithms. …”
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    Improved cytokine–receptor interaction prediction by exploiting the negative sample space
  14. 30314
    “…METHODS: Men (N = 228) aged at least 18 years whose partner had experienced an ectopic pregnancy, miscarriage, stillbirth, termination of pregnancy for foetal anomaly, or neonatal death within the last 20 years responded to an online survey exploring their experiences of grief. …”
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    Factors contributing to men’s grief following pregnancy loss and neonatal death: further development of an emerging model in an Australian sample
  15. 30315
    “…Our cohort (n = 143) was composed of unrelated patients suffering from a common lymphatic malformation (LM), a combined lymphatic malformation [lymphatico-venous malformation (LVM), capillaro-lymphatic malformation (CLM), capillaro-lymphatico-venous malformation (CLVM)], or a syndrome [CLVM with hypertrophy (Klippel-Trenaunay-Weber syndrome, KTS), congenital lipomatous overgrowth-vascular malformations-epidermal nevi -syndrome (CLOVES), unclassified PIK3CA-related overgrowth syndrome (PROS) or unclassified vascular (lymphatic) anomaly syndrome (UVA)]. RESULTS: We identified a somatic PIK3CA mutation in resected lesions of 108 out of 143 patients (75.5%). …”
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    Non-hotspot PIK3CA mutations are more frequent in CLOVES than in common or combined lymphatic malformations
  16. 30316
    “…BACKGROUND: The broad continuum between tropical and temperate floras in Eastern Asia (EAS) are thought to be one of the main factors responsible for a prominent species diversity anomaly of temperate plants between EAS and eastern North America (ENS). …”
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    More opportunities more species: Pleistocene differentiation and northward expansion of an evergreen broad-leaved tree species Machilus thunbergii (Lauraceae) in Southeast China
  17. 30317
    por Jacobson, A, Besirli, CG, Bohnsack, BL
    Publicado 2022
    “…RESULTS: Ten patients (14 eyes) with sclerocornea (6), Peters Anomaly (4), corneal decompensation from increased IOP (3), and corneal scar (1) underwent combined endoscopic vitrectomy with posteriorly-placed GDD (Baerveldt (10 eyes), Ahmed (4 eyes)) at 4.6 ± 5.8 years of age. …”
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    Outcomes of combined endoscopic vitrectomy and posteriorly placed glaucoma drainage devices in pediatric patients
  18. 30318
    “…Future studies are needed to assess whether the obtained reference values are helpful in clinical practice in the assessment of pregnancy complications, such as fetal growth restriction or cardiac anomaly. © 2022 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.…”
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    Fetal myocardial deformation measured with two‐dimensional speckle‐tracking echocardiography: longitudinal prospective cohort study of 124 healthy fetuses
  19. 30319
    “…However, CO and O(3) gases did not indicate anomaly during LSSR. Moreover, this study provides insight into the correlation between SUHII change and the distribution of air pollution in both cities during the pandemic year. …”
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    Assessment of the dynamics of urban surface temperatures and air pollution related to COVID-19 in a densely populated City environment in East Java
  20. 30320
    “…BACKGROUND: Anencephaly is a fatal congenital anomaly characterized by the absence of brain hemispheres and cranial arch. …”
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    Global prevalence of congenital anencephaly: a comprehensive systematic review and meta-analysis
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