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Mostrando 281 - 300 Resultados de 20,093 Para Buscar '"recession"', tiempo de consulta: 0.16s Limitar resultados
  1. 281
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    Cutis laxa autosomal recessive type II or wrinkly skin syndrome?
  2. 282
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    SIGMAR1 mutation associated with autosomal recessive Silver-like syndrome
  3. 283
    “…PURPOSE: The aim of this study is to identify the molecular basis of autosomal recessive congenital cataracts (arCC) in a large consanguineous pedigree. …”
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    Deletion at the GCNT2 Locus Causes Autosomal Recessive Congenital Cataracts
  4. 284
    “…This optic recess region (ORR) makes clear borders with its neighbor areas and expresses a specific set of genes (dlx2a, sim1a and otpb). …”
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    Identification of the optic recess region as a morphogenetic entity in the zebrafish forebrain
  5. 285
    “…Whether injury to the most distal portion of sensory small fibres due to a primary dermatological disorder can cause neuropathic pain is still unclear. Recessive dystrophic epidermolysis bullosa (RDEB) is a rare condition in which mutations of proteins of the dermo-epidermal junction lead to cycles of blistering followed by regeneration of the skin. …”
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    Recessive dystrophic epidermolysis bullosa results in painful small fibre neuropathy
  6. 286
    “…Autosomal recessive polycystic kidney disease (ARPKD) is a congenital hepatorenal fibrocystic disease. …”
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    Diagnosis and Management of Hepatobiliary Complications in Autosomal Recessive Polycystic Kidney Disease
  7. 287
    “…Unlike autosomal dominant polycystic kidney disease (ADPKD), autosomal recessive polycystic kidney disease (ARPKD) is not generally known to be associated with vascular abnormalities. …”
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    Extracranial Aneurysms in 2 Patients with Autosomal Recessive Polycystic Kidney Disease
  8. 288
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    Defects in the acid phosphatase ACPT cause recessive hypoplastic amelogenesis imperfecta
  9. 289
    “…BACKGROUND: Lethal recessive genetic variants are maintained at relatively low frequencies in a population in the heterozygous state, but by definition are fatal and therefore unobserved in the homozygous state. …”
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    Use of haplotypes to identify regions harbouring lethal recessive variants in pigs
  10. 290
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    Autosomal recessive inheritance of ADCY5-related generalized dystonia and myoclonus
  11. 291
    “…BACKGROUND: An increase in suicide mortality is often observed in economic recessions. The objective of this study was to analyse trends in socioeconomic inequalities in suicide mortality before and during the economic recession in two geographical settings in Spain. …”
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    Socioeconomic inequalities in suicide mortality before and after the economic recession in Spain
  12. 292
    “…The autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is associated with structural retinal abnormalities either directly visible on funduscopy or revealed by optical coherence tomography (OCT). …”
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    Inner Retinal Dysfunction in the Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay
  13. 293
    “…This technique re-creates the native anatomy and biomechanics of the hip after acetabular recession and labral repair while decreasing traction time.…”
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    “In-Round” Labral Repair After Acetabular Recession Using Intermittent Traction
  14. 294
    por Bergmann, Carsten
    Publicado 2018
    “…The family history usually is negative, both for recessive, but also often for dominant disease genes due to de novo arisen mutations or recessive inheritance of variants in genes that usually follow dominant patterns such as the main ADPKD genes PKD1 and PKD2. …”
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    Genetics of Autosomal Recessive Polycystic Kidney Disease and Its Differential Diagnoses
  15. 295
    “…Gingival recessions present complex soft tissue pathology, with a multiple aetiology and a high prevalence which increases with age. …”
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    Exploring the Gingival Recession Surgical Treatment Modalities: A Literature Review
  16. 296
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    Mutation of IPO13 causes recessive ocular coloboma, microphthalmia, and cataract
  17. 297
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    Correction: The population genetics of human disease: The case of recessive, lethal mutations
  18. 298
    “…PURPOSE: This study aims to determine the indications and effectiveness of transnasal endoscopic prelacrimal recess approach (PLRA) in patients with maxillary sinus inverted papilloma (IP). …”
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    Intranasal endoscopic prelacrimal recess approach for maxillary sinus inverted papilloma
  19. 299
    “…PURPOSE: To characterize the molecular genetics of autosomal recessive Noonan syndrome. METHODS: Families underwent phenotyping for features of Noonan syndrome in children and their parents. …”
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    Autosomal Recessive Noonan Syndrome Associated with Biallelic LZTR1Variants
  20. 300
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    In vivo confocal microscopy of iris in recessive cornea plana with anterior synechiae
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