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2,451 Possible Causes for plate, splicing

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  • Osteoporosis

    The patient underwent anterior cervical discectomy fusion and plating from C3-7, with vertebroplasty polymethylmethacrylate augmentation through the screw pilot holes.[] Sanger sequencing showed 41bp deletion in splice region following exon 1 of WNT1 gene in homozygous state.[] […] by far the most common bone disease; it probably occurs in all elderly individuals and may sometimes become evident as early as age 30… In affected persons the tiny rigid plates[]

  • Nystagmus

    A titanium T-plate was anchored to the lateral orbital rim and cantilevered into the orbit where it was secured to the inferior rectus muscle tendon with a suture.[] The c.2521-2A G splice mutation leads to skipping of exon 26 and a 9 base-pair deletion associated with a cryptic splice site, leading to a 28-AA and a 3-AA in-frame deletion[] These full-length and KIDINS220 splice variants occur at precise moments in cortical, hippocampal, and motor neuron development, with splice variants similar to the variants[]

  • Thyroxine

    T4Mabs were added to the plates and incubated for 2 hours at room temperature.[] […] site, affects the normal splicing process.[] Both reagent kits use the same polystyrene plates coated with anti-thyroxine (T4) polyclonal antibodies as solid phase.[]

  • Macrocephaly

    The authors describe a newborn with severe macrocephaly who underwent shunt placement followed by a limited cranial reduction and fixation procedure using an absorbable plate[] Exome sequencing revealed a homozygous splice site HERC1 mutation in both probands.[] The team placed a resorbable plate across the entire anterior fontanel and affixed the parietal and frontal bones firmly in place.[]

  • Ephedrine

    Two polymethylmethacrylate plates were used as substrates and a microchannel was carved in each plate.[] […] acetylcholinesterase (AChE) deficiency caused by mutations in the collagenic tail (ColQ) of AChE: a homozygous C-terminal Y230S mutation in Patient 1 and Y430S and a C-terminal splice-site[] The microchannel channel on the underneath plate provided the flow pass of the sample solution and the one on the upper plate dedicated to a compartment for the stagnant acceptor[]

  • Iron Deficiency Anemia

    The optical density of the staining in the fibrinoid of the chorionic and basal plates during chronic forms of chorioamnionitis and basal deciduitis is higher than the optical[] […] female with IRIDA who was compound heterozygous for two mutations in TMPRSS6: a novel missense mutation c.1807G C (p.Gly603Arg) in the serine protease domain and a known splicing[] […] deficiency anemia in gravidas (IDAG) contributes to an increase in the indices of the inflammation, the highest data pertaining to the endothelial cells of the placental basal plate[]

  • Leber Congenital Amaurosis

    Four of seven subjects were unable to read any of the HRR plates.[] A c.955G A missense mutation in the last base of exon 6 causing disruption of the splice donor site was identified in both the affected sibs.[] […] for human genetic diseases caused by splice mutations.[]

  • Piebaldism

    To simplify the extraction of epidermal cells from donor skin using a 6-well plate and to evaluate the clinical efficacy of this simplified technique in repigmenting stable[] In this study, we have investigated a Chinese family with piebaldism and auburn hair color; the mutation screening of KIT and MC1R genes identified that only a splicing mutation[] […] site nucleotide substitutions (IVS13 2T G, IVS17-1G A) that are predicted to impair normal splicing.[]

  • Progeria

    A classic HGPS case, of Korean ancestry, previously treated for severe coxa valga with bilateral varus osteotomies using blade plate fixation is presented.[] However, efficient regulation of viral pre-mRNA splicing through manipulation of host cell splicing machinery is also indispensible for HIV-1 replication.[] […] previously undescribed autopsy findings including premature loss of hair follicles, premature regression of the renal nephrogenic layer, and premature closure of the growth plates[]

  • Trigonocephaly

    Hence, stabilisation of cranial bone can be achieved endocranially using an absorbable plate and screws, with an encouraging cosmetic result.[] Two rare variants, both predicted to result in loss of functional protein, were identified in the IFT140 gene; a substitution at the splice donor site of exon 24 (c.723 1[] Improved aesthetics could be achieved by placing the plates endocranially.[]

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