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在“Elsevier电子期刊”中，命中：13条，耗时：0.0249859 秒

1.Otorhinolaryngological, audiovestibular and swallowing manifestations of patients with Niemann-Pick disease Type C

作者：Rezarta Taga Senirli^a ; Oğuz Kuş&ccedil ; u^a ; ^{drkuscu@gmail.com" class="auth_mail" title="E-mail the corresponding author} ; Umut Akyol^a ; Meral Top&ccedil ; u^b ; Ö ; znur Yiğit^c ; Songü ; l Aksoy^c ; Numan Demir^d

关键词：Niemann&ndash ; Pick disease ; Swallowing disorders ; Hearing problems ; Balance disorders

刊名：International Journal of Pediatric Otorhinolaryngology

出版年：2016

2.Etiological yield of SNP microarrays in idiopathic intellectual disability

作者：G. Eda Utine^a ; ^b ; ^{geutine@hacettepe.edu.tr" class="auth_mail} ; Gö ; knur Halilo臒lu^a ; ^c ; Bilge Volkan-Salanc谋^a ; ^b ; Arda &Ccedil ; etinkaya^b ; ^d ; Pelin Ö ; . Kiper^a ; ^b ; Yasemin Alanay^a ; ^b ; Dilek Akta艧^b ; ^d ; Banu Anlar^a ; ^c ; Meral Top&ccedil ; u^a ; ^c ; Koray Boduro臒lu^a ; ^b ; Mehmet Alika艧ifo臒lu^b ; ^d

关键词：SNP microarray ; Intellectual disability ; NRXN1 ; FOXP2 ; UBE2A ; Uniparental disomy ; Subtelomeric rearrangements

刊名：European Journal of Paediatric Neurology

出版年：May 2014

3.Radicular grooves of maxillary anterior teeth in a Turkish population: A cone-beam computed tomographic study

作者：Hakan Arslan^a ; ^{hakan.arslan@ikc.edu.tr" class="auth_mail} ; ^{dt_hakan82@hotmail.com" class="auth_mail} ; Elif Tarim Ertas^b ; ¹ ; ^{eliftarim@yahoo.com" class="auth_mail} ; Hü ; seyin Sinan Top&ccedil ; uo臒lu^c ; ² ; ^{topcuogluhs@hotmail.com" class="auth_mail} ; Ahmet Ercan 艦ekerci^d ; ² ; ^{ahmetercan@erciyes.edu.tr" class="auth_mail} ; Meral Y谋rcal谋 Atici^b ; ¹ ; ^{meral.yircali.atici@ikc.edu.tr" class="auth_mail} ; Huseyin Ertas^a ; ³ ; ^{dentisthuseyin@yahoo.com" class="auth_mail} ; Sezer Demirbu臒a^c ; ² ; ^{sezer@erciyes.edu.tr" class="auth_mail}

关键词：Anatomy ; Cone-beam computed tomography ; Maxillary central incisor ; Maxillary lateral incisor ; Radicular groove ; Root variation

刊名：Archives of Oral Biology

出版年：March, 2014

4.Four novel mutations in the ¦Â-galactosidase gene identified in infantile type of GM1 gangliosidosis

作者：Ba?ak &Ccedil ; eltik&ccedil ; i^a ; Halil ?brahim Ayd?n^b ; Serap Sivri^c ; Mü ; jgan Sö ; nmez^d ; Meral Top&ccedil ; u^c ; Hatice Asuman Ö ; zkara^a ; ^{ozkara@hacettepe.edu.tr}

关键词：Glycosphingolipidosis ; GM1 gangliosidosis ; Lysosomal ¦Â-galactosidase ; GLB1 gene ; Missense mutation ; Insertion mutation

刊名：Clinical Biochemistry

出版年：2012

5.Infantile convulsions and paroxysmal choreoathetosis in a consanguineous family

作者：Demir ; Ercan ; Prud'homme ; Jean Fran&ccedil ; ois ; Top&ccedilu ; Meral

刊名：Pediatric Neurology

出版年：2004

6.Sphingolipidoses in Turkey

作者：Asuman Ö ; zkara ; Hatice ; Top&ccedilu ; Meral

关键词：Lysosomal enzymes ; Sphingolipidoses ; Incidence

刊名：Brain and Development

出版年：2004

7.Mental retardation with rare fragile site expressed at 2q11

作者：Tü ; kün ; Ajlan ; Renda ; Yavuz ; Top&ccedilu ; Meral ; Tuncali ; Timur ; Bö ; kesoy ; Isik

关键词：Autosomes ; Rare folate sensitive fragile sites ; Chromosome 2 ; Fra (2)(q11) ; Mental retardation

刊名：Brain and Development

出版年：2000

8.Deletion analysis in Turkish patients with spinal muscular atrophy

作者：Erdem ; Hayat ; Pehlivan ; Sacide ; Topaloglu ; Haluk ; Ö ; zgü ; &ccedil ; Meral

关键词：Spinal muscular atrophy ; Survival motor neuron gene ; Neuronal apoptosis inhibitory protein gene ; p44 ; Deletion ; Phenotype ; Genotype

刊名：Brain and Development

出版年：1999

9.Investigation of thorium(IV) separation from cerium(IV) on a silica gel column coated with tri-octylphosphine oxide

作者：Hi&ccedil ; sö ; nmez ; Ü ; mran ; Eral ; Meral

关键词：Thorium (IV) ; Extraction chromatography ; Trioctylphosphine oxide ; Cerium (IV)

刊名：Journal of Alloys and Compounds

出版年：1998

10.Sandhoff disease in the Turkish population

作者：Asuman Ö ; zkara ; Hatice ; Top&ccedilu ; Meral ; Renda ; Yavuz

关键词：Hexosaminidase ; Sandhoff disease

刊名：Brain and Development

出版年：1997

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