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  1. 1321
    “…CONCLUSION: Our report substantially expands the molecular genetics and clinical basis of autosomal recessive STL and provides an overview about allelic COL9A3 disorders. …”
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    Identification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndrome
  2. 1322
    “…BACKGROUND: Autosomal recessive (AR) complete IRF8 deficiency is a rare severe inborn error of immunity underlying an absence of blood myeloid mononuclear cells, intracerebral calcifications, and multiple infections. …”
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    Pulmonary Alveolar Proteinosis and Multiple Infectious Diseases in a Child with Autosomal Recessive Complete IRF8 Deficiency
  3. 1323
    “…In this research report, we present a female proband with two distinct, inherited autosomal recessive loss-of-function SLC30A9 variants from unrelated parents. …”
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    Autosomal recessive SLC30A9 variants in a proband with a cerebrorenal syndrome and no parental consanguinity
  4. 1324
    “…The mutation was inherited in an autosomal recessive mode and further confirmed to co‐segregate with the disease phenotype in the family and showed to has the required criteria including rarity and deleteriousness to be considered as pathogenic. …”
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    A nonsense mutation in MME gene associates with autosomal recessive late‐onset Charcot–Marie–Tooth disease
  5. 1325
    “…BACKGROUND: Autosomal‐recessive renal tubular dysgenesis (AR‐RTD) is a rare genetic disorder caused by defects in the renin‐angiotensin system that manifests as fetal anuria leading to oligohydramnios and Potter sequence. …”
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    Expanding the clinical spectrum of autosomal‐recessive renal tubular dysgenesis: Two siblings with neonatal survival and review of the literature
  6. 1326
    “…Therefore, this article illustrates the importance of precise sinus opening guided by the natural sinus drainage pathway, using the anatomy of the frontal sinus (FS) and the frontal recess (FR) cells as an example. METHOD: A total of 82 sides cadaveric heads were dissected and analyzed, and the natural drainage pathways of the FR cells and FS were observed at 0°and 70°nasal endoscopic views, and the findings were summarized. …”
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    Precision Endonasal Endoscopic Surgery of the Frontal Recess Cells and Frontal Sinus Guided by the Natural Sinus Drainage Pathway
  7. 1327
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    Heterozygous Genetic Variants in Autosomal Recessive Genes of the Leptin-Melanocortin Signalling Pathway Are Associated With the Development of Childhood Obesity
  8. 1328
    “…Stressful life events such as a recession, could be devastating on a macro and micro level. …”
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    Modeling the impact of financial hardship and age on self-rated health and depressive symptoms pre/post the great recession
  9. 1329
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    Recessive PKD1 Mutations Are Associated With Febrile Seizures and Epilepsy With Antecedent Febrile Seizures and the Genotype-Phenotype Correlation
  10. 1330
    “…BACKGROUND: To evaluate the effectiveness of resected muscle adjustment compared with the recessed muscle adjustment in patients with intermittent exotropia. …”
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    Surgical outcomes of adjustment on recessed lateral rectus muscle versus resected medial rectus muscle for intermittent exotropia
  11. 1331
    por Ullah, Muhammad Ikram
    Publicado 2022
    “…Oculocutaneous albinism (OCA) is an autosomal recessive syndromic and non-syndromic defect with deficient or a complete lack of the melanin pigment. …”
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    Clinical and Mutation Spectrum of Autosomal Recessive Non-Syndromic Oculocutaneous Albinism (nsOCA) in Pakistan: A Review
  12. 1332
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    Combination of restoration with root coverage procedure at non-caries cervical lesions with gingival recession: A case report
  13. 1333
    “…We report the case of a Filipino girl with autosomal‐recessive‐type distal renal tubular acidosis and Glanzmann thrombasthenia caused by homozygous variants in the genes SLC4A1 and ITGA2B within the long homozygous DNA region on chromosome 17q21.31. …”
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    Association of autosomal‐recessive‐type distal renal tubular acidosis and Glanzmann thrombasthenia as a consequence of runs of homozygosity
  14. 1334
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    Case Report: Recessive Dystrophic Epidermolysis Bullosa With Severe Esophageal Stenosis: A Case Report and Literature Review
  15. 1335
    “…INTRODUCTION: X-linked recessive ichthyosis (XLI) is a genodermatosis, caused by a deficiency of the steroid sulphatase enzyme encoded by the STS gene (OMIM # 300,747). …”
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    X-linked recessive ichthyosis in 8 Tunisian patients: awareness of misdiagnosis due to the technical trap of the STS pseudogene
  16. 1336
    “…Recessive dystrophic epidermolysis bullosa (RDEB) is a severe skin fragility disorder caused by loss-of-function mutations in the COL7A1 gene, which encodes type VII collagen (C7), a protein that functions in skin adherence. …”
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    Therapeutic base editing and prime editing of COL7A1 mutations in recessive dystrophic epidermolysis bullosa
  17. 1337
    “…These findings expand the spectrum of causal MC1R variants causing recessive red in cattle.…”
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    Identification of two new recessive MC1R alleles in red‐coloured Evolèner cattle and other breeds
  18. 1338
    “…BACKGROUND: The impact of age at autosomal recessive limb girdle muscular dystrophy (LGMDR) onset on progression to loss of ambulation (LOA) has not been well established, particularly by subtype. …”
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    Progression to Loss of Ambulation Among Patients with Autosomal Recessive Limb-girdle Muscular Dystrophy: A Systematic Review
  19. 1339
    “…Background and aim: Autosomal recessive hypercholesterolemia (ARH) is a rare autosomal recessive disorder of low-density lipoprotein (LDL) metabolism caused by pathogenic variants in the LDLRAP1 gene. …”
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    Efficacy of Long-Term Treatment of Autosomal Recessive Hypercholesterolemia With Lomitapide: A Subanalysis of the Pan-European Lomitapide Study
  20. 1340
    “…We fitted mixed-effects regression models estimating trends in these outcomes—stratified by sex, age group, and state—during the pre-recession period (Jan 1, 2010–Dec 31, 2014). We calculated excess cases and deaths between Jan 1, 2015, and Dec 31, 2019 (the recession period) as the difference between reported values and a counterfactual of continued pre-recession trends. …”
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    Excess tuberculosis cases and deaths following an economic recession in Brazil: an analysis of nationally representative disease registry data
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