Search Results - "Konuşkan, B."
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G.P.141
Published in Neuromuscular disorders : NMD (01-10-2014)“…Congenital myasthenic syndromes (CMSs) are heterogeneous genetic disorders that result from impaired signal transmission at the neuromuscular junction (NMJ)…”
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Synthetic MRI in Neurofibromatosis Type 1
Published in American journal of neuroradiology : AJNR (01-09-2021)“…BACKGROUND AND PURPOSESynthetic MRI enables the generation of various contrast-weighted images and quantitative data in a reasonable scanning time. We aimed to…”
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Pediatric headache and neuroimaging: experience of two tertiary centers
Published in Child's nervous system (2020)“…Introduction Headache is a frequent complaint in children and adolescents. Decision-making for neuroimaging should take into account the cost and the need for…”
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Nonsense mutation dystrophinopathy: How mutation-specific treatments changed our clinical practice?
Published in Neuromuscular disorders : NMD (01-10-2015)Get full text
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P134 – 2952: Magnetic resonance imaging findings in pediatric tuberous sclerosis patients
Published in European journal of paediatric neurology (01-05-2015)“…Objectives To assess magnetic resonance imaging (MRI) findings in a group of 20 children below the age of 18 years diagnosed with tuberous sclerosis (TS)…”
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P.366 - Riboflavin transporter deficiency
Published in Neuromuscular disorders : NMD (01-10-2017)Get full text
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Riboflavin transporter deficiency
Published in Neuromuscular disorders : NMD (01-10-2017)Get full text
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Milestones of language development in Turkish children
Published in B-ENT (Leuven) (2013)“…Language delays are common in childhood, may be associated with delays in other areas of development, and can affect school performance. Various tests designed…”
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G.P.141: Dpagt1 mutation: Limb-girdle congenital myasthenic syndrome due to glycosylation defect
Published in Neuromuscular disorders : NMD (01-10-2014)“…Congenital myasthenic syndromes (CMSs) are heterogeneous genetic disorders that result from impaired signal transmission at the neuromuscular junction (NMJ)…”
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P108 – 1741 Anti-N-methyl-D-aspartate receptor encephalitis in a child
Published in European journal of paediatric neurology (01-09-2013)Get full text
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Epipteric bones in the pterion may be a surgical pitfall
Published in Minimally invasive neurosurgery (01-12-2003)“…The pterion, the most commonly used neurosurgical landmark, is defined as the junction of frontal, parietal, and greater wing of the sphenoid and the squamous…”
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G.P.222 - Nonsense mutation dystrophinopathy: How mutation-specific treatments changed our clinical practice?
Published in Neuromuscular disorders : NMD (01-10-2015)Get full text
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Hypertrophic cardiomyopathy with leprechaunism
Published in Journal of pediatric endocrinology & metabolism : JPEM (01-04-2008)Get more information
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Cadaveric observation of an aberrant left subclavian artery: A possible cause of thoracic outlet syndrome
Published in Clinical anatomy (New York, N.Y.) (01-04-2005)“…We report a rare anomaly of the left subclavian artery, coursing through the scalenus anterior muscle, that may cause thoracic outlet syndrome. We also discuss…”
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