Search Results - Muhsin Elmas

Genetic and clinical characterization of Niemann-Pick disease type C with homozygous NPC1 gene mutation: insights from whole exome sequencing and advanced neuroimaging of two famil... by Hajira Karim, Lima Oria, Muhsin Elmas

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A case of autosomal recessive congenital ichthyosis with a novel mutation identified in the TGM1 gene by whole exome sequencing by Gulhan Gurel, Muhsin Elmas, Basak Gogus

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ORAL AND DENTAL FINDINGS OF A CHILD WITH WEILL-MARCHESANI SYNDROME TYPE II: A CASE REPORT WITH 3-YEAR FOLLOW-UP by Melike Tıraş, Muhsin Elmas, Burcu Güçyetmez Topal

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A Novel Heterozygous Mutation in the SYK Gene and Systemic Inflammation with Immunodeficiency - a case report by Aslı Guner Ozturk Demir, Akif Ayaz, Muhsin Elmas

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DRP2 Mutation in Familial Autism Spectrum Disorder: A Case Report of 2 Consanguineous Patients by Hajira Karim, Lima Oria, Aslı Güner Öztürk Demir, Muhsin Elmas, Amogh Verma

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Turkish family with Dysequilibrium syndrome with a novel mutation in the VLDLR gene. by Muhsin Elmas, Basak Gogus, Ayse Tolunay Oflu, Aysegul Bukulmez, Ebru Elmas, Mustafa Solak

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Genetic and Clinical Evaluation of Retinitis Pigmentosa by Leyla Eryiğit Eroğul, Ayça Nur Demir, Hamidu Hamisi Gobeka, Mustafa Doğan, Muhsin Elmas, Özgür Eroğul

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Two different homozygous mutations in two Turkish siblings: DGUOK and HPS5 by Muhsin Elmas, Umit Can Yildirim, Dilek Cavusoglu, Evrim Gurhan Tahta, Ebru Elmas, Tolga Altug Sen, Aysegul Bukulmez

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Correction: Relationship between expression levels of TDRD7 and CRYBB3 and development of age-related cortico-nuclear cataracts by Saliha Handan Yildiz, Cem Karaosmanoğlu, Rahmi Duman, Nuray Varol, Müjgan Özdemir Erdoğan, Mustafa Solak, Reşat Duman, Muhsin Elmas

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