Materias dentro de su búsqueda.
Mostrando 1,501 - 1,520 Resultados de 20,093 Para Buscar '"recession"', tiempo de consulta: 0.25s Limitar resultados
  1. 1501
    “…In conclusion, this study represents the first report of an FA2H-related autosomal recessive inherited skin disorder in a mammalian species and adds FA2H to the list of candidate genes for ichthyosis in humans and animals. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    A frameshift insertion in FA2H causes a recessively inherited form of ichthyosis congenita in Chianina cattle
  2. 1502
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Identification of Novel and Recurrent Variants in MYO15A in Ashkenazi Jewish Patients With Autosomal Recessive Nonsyndromic Hearing Loss
  3. 1503
    “…The major-effect QTL (qMLN06_157) is recessively inherited and explained 55%–70% of the phenotypic variation with an approximately 6 Mb confidence interval. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Discovery and Validation of a Recessively Inherited Major-Effect QTL Conferring Resistance to Maize Lethal Necrosis (MLN) Disease
  4. 1504
    “…Autosomal recessive congenital ichthyosis (ARCI) is a rare form of keratinization disorder of the skin, which can be caused by mutations in 14 ARCI genes. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Novel compound heterozygous mutations in the CYP4F22 gene in a patient with autosomal recessive congenital ichthyosis
  5. 1505
    “…SCN1A-related epilepsies present in most cases an autosomal dominant inheritance; however, there is growing evidence that some genetic variants only manifest clinical symptoms when they are present in both alleles, following an autosomal recessive inheritance.…”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Case Report: Novel Homozygous Likely Pathogenic SCN1A Variant With Autosomal Recessive Inheritance and Review of the Literature
  6. 1506
    “…Genetic analysis and map-based cloning indicated that bk-5 was controlled by a single recessive nuclear gene and that it was located in a 90.2-Kb region on chromosome 3 that covers three open reading frames (ORFs). …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Identification and Fine Mapping of the Recessive Gene BK-5, Which Affects Cell Wall Biosynthesis and Plant Brittleness in Maize
  7. 1507
    “…African families were already more likely to be disadvantaged prior to the recession and that pattern persisted during the recession. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    The impact of economic recession on the health of migrant fathers over time: results from the Growing up in Ireland longitudinal study
  8. 1508
    por Vågerö, Denny, Garcy, Anthony M
    Publicado 2021
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Erratum to: Does unemployment cause long-term mortality? Selection and causation after the 1992–96 deep Swedish recession
  9. 1509
    “…Background: Cutaneous squamous cell carcinoma (cSCC) is one of the most devastating complications of recessive dystrophic epidermolysis bullosa (RDEB). …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Immune Disregulation in Cutaneous Squamous Cell Carcinoma of Patients with Recessive Dystrophic Epidermolysis Bullosa: A Single Pilot Study
  10. 1510
    “…This approach allowed the detection of only one mutation in SH3TC2, the frequent p.Arg954*, while SH3TC2 is known to be responsible for autosomal recessive demyelinating CMT forms. Interestingly, by modifying the standard CovCopCan use, we detected the second mutation of this patient corresponding to a 922 bp deletion in SH3TC2 (Chr5:148,390,609-Chr5:148,389,687), including only one exon (exon 14). …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    From Negative to Positive Diagnosis: Structural Variation Could Be the Second Mutation You Are Looking for in a Recessive Autosomal Gene
  11. 1511
    “…TRIM63 is one of the rare genes recently described as a cause of HCM with autosomal-recessive inheritance. Herein, we present two cases of HCM associated with TRIM63-compound heterozygous variants in young male sportsmen. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Case Report: Two New Cases of Autosomal-Recessive Hypertrophic Cardiomyopathy Associated With TRIM63-Compound Heterozygous Variant
  12. 1512
    “…Autosomal recessive cerebellar ataxia type 1 (ARCA-1), also known as autosomal recessive spinocerebellar ataxia type 8 (SCAR8), is caused by spectrin repeat containing nuclear envelope protein 1 (SYNE1) gene mutation. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Case Report: Late-Onset Autosomal Recessive Cerebellar Ataxia Associated With SYNE1 Mutation in a Chinese Family
  13. 1513
    “…Equally variable is molecular aetiology; recessive forms are caused by approximately 20 different genes, many of which are directly implicated in collagen type I biosynthesis. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Phenotypic Variation in Vietnamese Osteogenesis Imperfecta Patients Sharing a Recessive P3H1 Pathogenic Variant
  14. 1514
    “…Recently, biallelic, autosomal recessive, pathogenic variants in RPL3L (ribosomal protein L3-like) have been reported in the literature with severe early-onset DCM. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Further Evidence of Autosomal Recessive Inheritance of RPL3L Pathogenic Variants with Rapidly Progressive Neonatal Dilated Cardiomyopathy
  15. 1515
    “…PURPOSE: To investigate the molecular basis of recessively inherited congenital cataract, microcornea, and corneal opacification with or without coloboma and microphthalmia in two consanguineous families. …”
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Novel SIX6 mutations cause recessively inherited congenital cataract, microcornea, and corneal opacification with or without coloboma and microphthalmia
  16. 1516
    “…Over the past decade, a growing number of patients with phaeohyphomycosis but otherwise healthy were reported with autosomal recessive (AR) CARD9 deficiency. We report a 28-year-old woman who presented with invasive rhinosinusitis caused by Alternaria infectoria. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Invasive Rhinosinusitis Caused by Alternaria infectoria in a Patient with Autosomal Recessive CARD9 Deficiency and a Review of the Literature
  17. 1517
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    A Novel Complete Autosomal-Recessive STAT1 LOF Variant Causes Immunodeficiency with Hemophagocytic Lymphohistiocytosis–Like Hyperinflammation
  18. 1518
    “…In collaboration with other components, TMIE aids the maintenance and function of the sensory hair cells. Autosomal recessive deafness-6 (DFNB6) is caused by mutated TMIE, a gene in the high genetic heterogeneity spectrum of deafness. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Analysis of TMIE gene mutations including the first large deletion of exon 1 with autosomal recessive non-syndromic deafness
  19. 1519
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Interdental plaque reduction after the use of different devices in patients with periodontitis and interdental recession: A randomized clinical trial
  20. 1520
    “…BACKGROUND: This study aimed to evaluate the effect of acellular dermal matrix allograft (ADMA) for the treatment of gingival recession as a substitute for subepithelial connective tissue graft (SCTG). …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Comparison of acellular dermal matrix allograft (ADMA) and a subepithelial connective tissue graft (SCTG) for the treatment of gingival recession
Herramientas de búsqueda: RSS