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  1. 1541
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    Case report: Autosomal recessive type 3 Stickler syndrome caused by compound heterozygous mutations in COL11A2
  2. 1542
    “…Various clinical parameters were assessed viz. probing pocket depth (PPD), clinical attachment level (CAL), gingival recession height (RH) and width of keratinized gingiva (WKG) at baseline and 6 months after surgery. …”
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    Treatment of gingival class I or class II recession using subepithelial connective tissue graft and acellular dermal matrix allograft
  3. 1543
    por Al-Obaisi, Saif, Al-Najjar, Taghreed
    Publicado 2023
    “…Botulinum toxin injection adjunct to bilateral medial rectus recession is a documented procedure for correcting the large angle of infantile esotropia. …”
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    Botulinum Toxin as an Adjunct to Bilateral Medial Rectus Recessions for Large Angle of Esotropia in High Myopic Patients: A Case Report
  4. 1544
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    Comment on – Observation on the curative effect of horizontal rectus transposition combining recess–resect treatment on monocular elevation deficiency with horizontal strabismus
  5. 1545
    “…OBJECTIVE: Recessive dystrophic epidermolysis bullosa (RDEB) is a genetic skin fragility and ultimately lethal blistering disease caused by mutations in the COL7A1 gene which is responsible for coding type VII collagen. …”
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    CRISPR/Cas9-Mediated Generation of COL7A1-Deficient Keratinocyte Model of Recessive Dystrophic Epidermolysis Bullosa
  6. 1546
    “…BACKGROUND: Autosomal Recessive Primary Microcephaly (MCPH) is a disorder of neurogenic mitosis. …”
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    Previously described sequence variant in CDK5RAP2 gene in a Pakistani family with autosomal recessive primary microcephaly
  7. 1547
    “…Differential effects on the two gates that appear to modulate the activation of ClC-1 channels may be important determinants for the different patterns of inheritance of dominant and recessive ClC-1 mutations.…”
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    The Muscle Chloride Channel ClC-1 Has a Double-Barreled Appearance that Is Differentially Affected in Dominant and Recessive Myotonia
  8. 1548
    “…METHODS: We studied several Cypriot autosomal recessive cerebellar ataxia (ARCA) families for linkage to known ARCA gene loci. …”
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    A novel c.5308_5311delGAGA mutation in Senataxin in a Cypriot family with an autosomal recessive cerebellar ataxia
  9. 1549
    “…PURPOSE: To investigate the genetic basis of autosomal recessive retinal degeneration in a large consanguineous family from Pakistan. …”
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    A missense mutation in the nuclear localization signal sequence of CERKL (p.R106S) causes autosomal recessive retinal degeneration
  10. 1550
    por Kwon, YE, Sperlich, D
    Publicado 1992
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    Developmental time at which spontaneous, X-ray-induced and EMS-induced recessive lethal mutations become effective in Drosophila melanogaster
  11. 1551
    “…PURPOSE: To identify the gene mutations responsible for autosomal recessive retinitis pigmentosa (arRP) in Pakistani families. …”
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    A homozygous p.Glu150Lys mutation in the opsin gene of two Pakistani families with autosomal recessive retinitis pigmentosa
  12. 1552
    “…In the past decades, the research focus has been predominantly on X-linked ID (68 loci and 19 genes for non syndromic X linked ID) while for autosomal recessive nonsyndromic ID (NSID) only 30 loci and 6 genes have been reported to date. …”
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    A novel deletion mutation in the TUSC3 gene in a consanguineous Pakistani family with autosomal recessive nonsyndromic intellectual disability
  13. 1553
    “…BACKGROUND: Gingival recession (GR) can result in root sensitivity, esthetic concern to the patient, and predilection to root caries. …”
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    Comparative evaluation of a bioabsorbable collagen membrane and connective tissue graft in the treatment of localized gingival recession: A clinical study
  14. 1554
    “…Progressive external ophthalmoplegia (PEO) is an inherited mitochondrial disease that follows either autosomal dominant or recessive forms of inheritance (adPEO or arPEO). AdPEO is a genetically heterogeneous disease and several genes, including POLG1 and C10orf2/Twinkle, have been identified as responsible genes. …”
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    Exome sequencing identifies a novel missense variant in RRM2B associated with autosomal recessive progressive external ophthalmoplegia
  15. 1555
    “…With the aid of this knowledge, we identified MARS2 to be mutated in Autosomal Recessive Spastic Ataxia with Leukoencephalopathy (ARSAL) patients. …”
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    Mutations in the Mitochondrial Methionyl-tRNA Synthetase Cause a Neurodegenerative Phenotype in Flies and a Recessive Ataxia (ARSAL) in Humans
  16. 1556
    “…Recently, high-throughput technologies have provided an option for reasonably fast, cost-effective genetic characterization of autosomal recessive RP (arRP). The current study used a single nucleotide polymorphism (SNP) genotyping method to exclude up to 28 possible disease-causing genes in 31 non-consanguineous Australian families affected by arRP. …”
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    Application of a high-throughput genotyping method for loci exclusion in non-consanguineous Australian pedigrees with autosomal recessive retinitis pigmentosa
  17. 1557
    “…We employed whole exome sequencing to investigate three Norwegian siblings with an autosomal recessive spastic ataxia and epilepsy. All patients were compound heterozygous (c.13352T>C, p.Leu4451Pro; c.6890T>G, p.Leu2297Trp) for mutations in the SACS gene establishing the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). …”
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    Novel SACS Mutations Identified by Whole Exome Sequencing in a Norwegian Family with Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay
  18. 1558
    “…We recently described a cohort of recessive MC patients showing, at a low rate repetitive nerves stimulation protocol, different values of compound muscle action potential (CMAP) transitory depression, which is considered the neurophysiologic counterpart of transitory weakness. …”
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    Functional characterization of ClC-1 mutations from patients affected by recessive myotonia congenita presenting with different clinical phenotypes()
  19. 1559
    “…METHODS: By whole exome sequencing, we identified responsible gene of family 4794 with autosomal recessively nonsyndromic hearing loss (ARNSHL). We also used DNA from 56 Chinese familial patients with ARNSHL (autosomal recessive nonsyndromic hearing loss) and 108 ethnicity-matched negative samples to perform extended variants analysis. …”
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    Novel compound heterozygous mutations in the MYO15A gene in autosomal recessive hearing loss identified by whole-exome sequencing
  20. 1560
    “…We measured the quantity and intensity of physical activity in 106 urban public school students during recess outdoors, recess indoors in the gym, and recess indoors in the classroom. …”
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    Physical Activity During Recess Outdoors and Indoors Among Urban Public School Students, St. Louis, Missouri, 2010–2011
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