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  1. 1661
    “…RESULTS: Sanger sequencing resulted in the identification of a novel splice site mutation (NM_024513.3: c.3151‐29_3151‐7del) segregating in an autosomal recessive manner. This novel variant was confirmed to be absent in the n = 300 population controls. …”
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    Targeted gene sequencing of FYCO1 identified a novel mutation in a Pakistani family for autosomal recessive congenital cataract
  2. 1662
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    AAV-mediated rescue of Eps8 expression in vivo restores hair-cell function in a mouse model of recessive deafness
  3. 1663
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    A novel mutation of X‐linked recessive deafness gene POU3F4 in a boy with congenital deafness
  4. 1664
    “…Mutations in WNK1, WNK4, CUL3, and KLHL3 cause PHA II, with dominant mutations in WNK1, WNK4, and CUL3 and either dominant or recessive mutations in KLHL3. Fourteen families with recessive KLHL3 mutations have been reported, with diagnosis at the age of 3 months to 56 years, typically in individuals with normal kidney function. …”
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    A Novel Homozygous KLHL3 Mutation as a Cause of Autosomal Recessive Pseudohypoaldosteronism Type II Diagnosed Late in Life
  5. 1665
    “…Radiological assessments of recess angle, recess height, facet length, and recess dural sac diameters were compared. …”
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    Comparative Cohort Study for Expansion of Lateral Recess and Facet Joint Injury after Biportal Endoscopic Ipsilateral Decompression and Contralateral Decompression
  6. 1666
    “…A gene panel analysis comprising 105 known RP genes was used to analyze a family with autosomal-recessive retinitis pigmentosa (arRP) and revealed that CNGA1 was affected. …”
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    Mutations within the cGMP-binding domain of CNGA1 causing autosomal recessive retinitis pigmentosa in human and animal model
  7. 1667
    “…Background and objectives: Autosomal recessive spinocerebellar ataxia-13 (SCAR13) is an ultra-rare disorder characterized by slowly progressive cerebellar ataxia, cognitive deficiencies, and skeletal and oculomotor abnormalities. …”
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    A Novel Nonsense Variant in GRM1 Causes Autosomal Recessive Spinocerebellar Ataxia 13 in a Consanguineous Pakistani Family
  8. 1668
    “…BACKGROUND: Mutations in solute carrier family 4 member 1 (SLC4A1) encoding anion exchanger 1 (AE1) are the most common cause of autosomal recessive distal renal tubular acidosis (AR dRTA) in Southeast Asians. …”
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    Impaired trafficking and instability of mutant kidney anion exchanger 1 proteins associated with autosomal recessive distal renal tubular acidosis
  9. 1669
    por Yao, Zong, Jiang, Wen-Lan, Yang, Xian
    Publicado 2022
    “…She was diagnosed with HES and underwent a bilateral Yokoyama procedure and recession of the right MR muscle under general anesthesia. …”
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    Yokoyama procedure for a woman with heavy eye syndrome who underwent multiple recession-resection operations: A case report
  10. 1670
    “…This article presents the case of a 5-year-old female patient with rapidly deteriorating physical function due to bilateral proximal femoral Salter-Harris type II fractures with associated slippage of the growth plates secondary to confirmed autosomal recessive osteopetrosis. Operative treatment was performed in a tertiary level orthopedic center with closed reduction and internal fixation with cannulated screws. …”
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    Pediatric patient with a bilateral Salter-Harris II fracture and slipped capital femoral epiphysis secondary to autosomal recessive osteopetrosis
  11. 1671
    “…Mutations in the human desmin gene (DES) may cause both autosomal dominant and recessive cardiomyopathies leading to heart failure, arrhythmias and atrio-ventricular blocks, or progressive myopathies. …”
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    Bi-Allelic DES Gene Variants Causing Autosomal Recessive Myofibrillar Myopathies Affecting Both Skeletal Muscles and Cardiac Function
  12. 1672
    “…Intraoperatively, shallow right calcaneal tuber was observed. Block recession calcaneoplasty with retinaculum repair using anchor screw were performed to manage SDFT luxation. …”
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    Case report: Block recession calcaneoplasty of the calcaneal tuber for treating lateral superficial digital flexor tendon luxation in a dog
  13. 1673
    “…Global prevalence of RP is ~ 1/4000 and it can be inherited as autosomal dominant (adRP), autosomal recessive (arRP) or X- linked (xlRP). We designed this study to identify causative mutations in Pakistani families affected with arRP. …”
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    Compound Homozygous Rare Mutations in PLCE1 and HPS1 Genes Associated with Autosomal Recessive Retinitis Pigmentosa in Pakistani Families
  14. 1674
    “…Variants in the usherin gene (USH2A) have been reported in autosomal recessive RP with or without hearing loss. In the present study, we aimed to identify causative variants in a Han-Chinese pedigree with autosomal recessive RP. …”
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    Novel compound heterozygous variants in the USH2A gene associated with autosomal recessive retinitis pigmentosa without hearing loss
  15. 1675
    “…At baseline, 3, and 6 months after surgery, clinical measurements of probing depth, clinical attachment level (CAL), recession depth (RD), recession width (RW), and width of keratinized tissue were taken. …”
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    Clinical evaluation of periosteal pedicle flap in the treatment of gingival recessions for esthetic root coverage: A randomized controlled clinical trial
  16. 1676
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    The stress test every business needs: a capital agenda for confidently facing recessions, digital disruption, difficult investors, and geopolitical threats
  17. 1677
    “…Here, we tested how regulation of renal TRPV4 function by dietary K(+) intake modulates the rate of cystogenesis and mechanosensitive [Ca(2+)]( i ) signaling in cystic cells of PCK453 rats, a homologous model of human autosomal recessive PKD (ARPKD). One month treatment with both high KCl (5% K(+)) and KB/C (5% K(+) with bicarbonate/citrate) diets significantly increased TRPV4 levels when compared to control (0.9% K(+)). …”
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    TRPV4 functional status in cystic cells regulates cystogenesis in autosomal recessive polycystic kidney disease during variations in dietary potassium
  18. 1678
    “…OBJECTIVE: To investigate the correlation between postoperative imaging parameters and clinical outcomes in patients with foraminal stenosis (FS) and lateral recess stenosis (LRS) who underwent percutaneous endoscopic transforaminal decompression (PETD). …”
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    Correlation Between Postoperative Imaging Parameters and Clinical Outcomes of Percutaneous Endoscopic Transforaminal Decompression for Lumbar Spinal Foraminal and Lateral Recess Stenosis
  19. 1679
    “…CAF in the treatment of multiple gingival recession defects.…”
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    Efficacy of Tunnel Technique (TUN) versus Coronally Advanced Flap (CAF) in the Management of Multiple Gingival Recession Defects: A Meta-Analysis
  20. 1680
    “…Background: Autosomal recessive osteopetrosis (ARO) is a rare genetic disorder of bone metabolism, primarily affecting the remodelling function of osteoclasts. …”
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    Bone Turnover Marker for the Evaluation of Skeletal Remodelling in Autosomal Recessive Osteopetrosis after Haematopoietic Stem Cell Transplantation: A Case Report
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