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  1. 601
    “…Background: Recessive dystrophic epidermolysis bullosa (RDEB) is a hereditary skin disorder characterized by mechanical fragility of the skin, resulting in blistering and chronic wounds. …”
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    TGFβ-signaling in Squamous Cell Carcinoma Occurring in Recessive Dystrophic Epidermolysis Bullosa
  2. 602
    “…BACKGROUND: Autosomal recessive cerebellar ataxias (ARCA) are a complex group of neurodegenerative disorders with great genetic and phenotypic heterogeneity, over 30 genes/loci have been associated with more than 20 different clinical forms of ARCA. …”
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    Molecular and clinical study of a cohort of 110 Algerian patients with autosomal recessive ataxia
  3. 603
    “…PURPOSE: To investigate the genetic basis for autosomal recessive cone-rod dystrophy (CRD) in a consanguineous Israeli Jewish family. …”
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    An intronic deletion in the PROM1 gene leads to autosomal recessive cone-rod dystrophy
  4. 604
    “…We evaluate the surgical outcomes and surgical responses of medial rectus muscle (MR) recession patients with thyroid eye disease (TED)-related esotropia (ET). …”
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    Surgical Responses of Medial Rectus Muscle Recession in Thyroid Eye Disease-Related Esotropia
  5. 605
    “…In our study, an in-house gene panel comprising 75 known RP genes was used to analyze a cohort of 47 unrelated Spanish families pre-classified as autosomal recessive or isolated RP. Disease-causing mutations were found in 27 out of 47 cases achieving a mutation detection rate of 57.4%. …”
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    Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa
  6. 606
    “…Autosomal recessive cerebellar ataxia (ARCA) comprises a large and heterogeneous group of neurodegenerative disorders. …”
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    UBA5 Mutations Cause a New Form of Autosomal Recessive Cerebellar Ataxia
  7. 607
    “…Treatment of gingival recession is essential to rectify the esthetic and functional deficiencies of the patient and to combat further periodontal destruction. …”
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    Esthetic dentistry for multiple gingival recession cases: Coronally advanced flap with bracket application
  8. 608
    “…Gingival recession (GR) is a condition resulting in root exposure which leads to root sensitivity, pain, root caries, plaque retention, poor esthetics, and tooth loss. …”
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    Pedicled buccal fat pad graft for root coverage in severe gingival recession defect
  9. 609
    “…PURPOSE: To describe the clinical and genetic findings in a patient with autosomal recessive bestrophinopathy (ARB) and his healthy parents. …”
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    Detailed analysis of family with autosomal recessive bestrophinopathy associated with new BEST1 mutation
  10. 610
    por Pearson, Toni S.
    Publicado 2016
    “…BACKGROUND: The autosomal recessive ataxias are a heterogeneous group of disorders that are characterized by complex neurological features in addition to progressive ataxia. …”
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    More Than Ataxia: Hyperkinetic Movement Disorders in Childhood Autosomal Recessive Ataxia Syndromes
  11. 611
    “…BACKGROUND: Previous studies have suggested that some children with autosomal recessive polycystic kidney disease (ARPKD) have growth impairment out of proportion to their degree of chronic kidney disease (CKD). …”
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    Growth in Children with Autosomal Recessive Polycystic Kidney Disease in the CKiD Cohort Study
  12. 612
    “…Although many techniques have been described for gastrocnemius recession, potential anesthetic, cosmetic, and wound-related complications can lead to patient dissatisfaction. …”
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    Ultrasound-guided gastrocnemius recession: a new ultra–minimally invasive surgical technique
  13. 613
    “…OBJECTIVE: The objective of this study was to identify new causes of Charcot–Marie–Tooth (CMT) disease in patients with autosomal‐recessive (AR) CMT. METHODS: To efficiently identify novel causative genes for AR‐CMT, we analyzed 303 unrelated Japanese patients with CMT using whole‐exome sequencing and extracted recessive variants/genes shared among multiple patients. …”
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    Mutations in MME cause an autosomal‐recessive Charcot–Marie–Tooth disease type 2
  14. 614
    “…In the absence of an agrochemical that specifically targets plant viral infection cycles, one of the most effective methods for controlling viral diseases in plants is taking advantage of the host plant’s resistance machinery. Recessive resistance is conferred by a recessive gene mutation that encodes a host factor critical for viral infection. …”
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    Recessive Resistance to Plant Viruses: Potential Resistance Genes Beyond Translation Initiation Factors
  15. 615
    “…Biallelic genetic mutations in the Park2 and PINK1 genes are frequent causes of autosomal recessive PD. Carriers of single heterozygous mutations may manifest subtle signs of disease, thus providing a unique model of preclinical PD. …”
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    Brain Connectivity Changes in Autosomal Recessive Parkinson Disease: A Model for the Sporadic Form
  16. 616
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    Cost-Sharing Rates Increase During Deep Recession: Preliminary Data From Greece
  17. 617
    “…Only one sporadic patient was a compound heterozygote for two recessive mutations. Patients offspring of consanguineous parents showed homozygous changes in a variety of genes including CRTAP,FKBP10,LEPRE1,PLOD2,PPIB,SERPINF1,TMEM38B, and WNT1. …”
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    Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta
  18. 618
    “…Autosomal recessive congenital ichthyosis in the American bulldog is characterized by generalized scaling and erythema with adherent scale on the glabrous skin. …”
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    A Defect in NIPAL4 Is Associated with Autosomal Recessive Congenital Ichthyosis in American Bulldogs
  19. 619
    “…Autosomal recessive polycystic kidney disease (ARPKD) is a rare monogenic disease with a severe phenotype often presenting prenatally or in early childhood. …”
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    Recent Progress of the ARegPKD Registry Study on Autosomal Recessive Polycystic Kidney Disease
  20. 620
    “…The objective is to analyse contextual factors associated with mental health among the Spanish population during the recession. METHODOLOGY: Cross-sectional, descriptive study of two periods: before the recession (2006) and after therecession (2011-2012). …”
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    Socio-economic factors linked with mental health during the recession: a multilevel analysis
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