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test sensitivity: pcr-based sequencing detects 99% of the reported mutations in gjb2. mutations in gjb2 account for 18% of congenital sensorineural hearing loss in the u.s.…
novel mutations in the connexin 43(gja1) and gja1 pseudogene may contribute to nonsyndromic hearing loss. novel mutations in the connexin 43(gja1) may contribute to nonsyndromic…
review article genetics of nonsyndromic congenital hearing loss oguz kadir egilmez and m. tayyar kalcioglu department of otorhinolaryngology, faculty of medicine, istanbul…
nonsyndromic craniosynostosis introduction of craniosynostosis the premature fusion of calvarial sutures occurs in approximately 1 in 2500 live births the cause…
article novel form of x-linked nonsyndromic hearing loss with cochlear malformation caused by a mutation in the type iv collagen gene col4a6 simone rost*,1, elisa bach1,…
slide 1 mutations of the gene encoding otogelin are a cause of autosomal-recessive nonsyndromic moderate hearing impairment margit schraders, laura ruiz-palmero, ersan kalay,…
ravi kumar mahto ,1 shantanu dixit,2 dashrath kafle,1 aradhana agarwal,1 michael bornstein,3 and sanad dulal4 1department of orthodontics, dhulikhel hospital, kathmandu university
109© 2014 deutsche dermatologische gesellschaft (ddg). published by john wiley & sons ltd. | jddg | 1610-0379/2014/1202 109 nonsyndromic types of ichthyoses â an…
/var/tmp/stamppdf/nazvw5nhih/text.pdf.1582830134.titlepage.pdf.q0gmz11-2017 a variant associated with sagittal nonsyndromic craniosynostosis a variant associated with sagittal
abnormal skull shape in nonsyndromic craniosynostosisaccuracy of 3d ct” introduction postnatal growth and shaping of the skull occurs during the first 2 years of life.
oct-documented optic atrophy in nonsyndromic craniosynostosis and lacunar skullfig 1. a-b, cyclic esotropia at presentation. c-d, deviation present on esotropic days (c)
hindawi publishing corporation case reports in dentistry volume 2013 article id 835989 4 pages http:dxdoiorg1011552013835989 case report hereditary nonsyndromic gingival…
1.muhamad and azzaldeen, 1:11http://dx.doi.org/10.4172/scientificreports.510open accessscientific reports open access scientific reportsreview articleopen accessopen accessgenetic…
1. muhamad and azzaldeen, 1:11http://dx.doi.org/10.4172/scientificreports.510open accessscientific reports open access scientific reportsreview articleopen accessopen accessgenetic…
hereditary retinal diseases (hrds) are heterogeneous disorders that cause incurable visual loss mainly due to the dysfunction or degeneration of rod and cone photoreceptor
review articleinherited nonsyndromic ichthyoses: an updateon pathophysiology, diagnosis and treatmentanders vahlquist1 judith fischer2 hans torma1published online: 16 august…
1 title: thoc1 deficiency leads to late-onset nonsyndromic hearing loss through p53-mediated hair cell apoptosis running title: a mutation in thoc1 causes hearing loss luping…
a mouse model for nonsyndromic deafness dfnb12 links hearing loss to defects in tip links of mechanosensory hair cells martin schwandera,b, wei xionga,b, joshua tokitac,…
interdisciplinary treatment of a nonsyndromic oligodontia patient with implant-anchored orthodontics shingo kurodaa mitsuhiro iwatab nagato tamamurac khaliunaa ganzorigd…
nonsyndromic bilateral and unilateral optic nerve aplasia: first familial occurrence and potential implication of cyp26a1 and cyp26c1 genes françoise meire1 isabelle delpierre2…