Yazar "Elmas, Muhsin" için Scopus İndeksli Yayınlar Koleksiyonu listeleme
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A case of spastic paraplegia type 11 with a variation in the SPG11 gene
Elmas, Muhsin; Göğüş, Başak; Değirmenci, Banu; Solak, Mustafa; Gleeson, J.G. (Springer, 2020)Background: Spastic paraplegia 11 (SPG11) is defined as progressive spasticity and weakness of the lower limbs and also associated with mild intellectual disability with learning difficulties in childhood and/or progressive ... -
Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium
Dündar, Munis; Fahrioğlu, Umut; Yıldız, Saliha Handan; Bakır-Güngör, Burcu; Temel, Sehime Gülsün; Akın, Haluk; Artan, Sevilhan; Çora, Tülin; Şahin, Feride İffet; Dursun, Ahmet; Sezer, Özlem; Gürkan, Hakan; Erdoğan, Murat; Semerci Gündüz, C. Nur; Bişgin, Atıl; Özdemir, Öztürk; Ülgenalp, Ayfer; Perçin, E. Ferda; Yıldırım, Malik Ejder; Tekeş, Selahaddin; Bağış, Haydar; Yüce, Hüseyin; Duman, Nilgün; Bozkurt, Gökay; Yararbaş, Kanay; Yıldırım, Mahmut Selman; Arman, Ahmet; Mihci, Ercan; Eraslan, Serpil; Mert Altıntaş, Zuhal; Aymelek, Huri Sema; Ilgın Ruhi, Hatice; Tatar, Abdulgani; Ergören, Mahmut Çerkez; Çetin, G. Ozan; Altunoğlu, Umut; Çağlayan, Ahmet Okay; Yüksel, Berrin; Özkul, Yusuf; Saatçi, Çetin; Kenanoğlu, Sercan; Karasu, Nilgün; Dündar, Bilge; Özçelik, Fırat; Demir, Mikail; Sınıksaran, Betül Seyhan; Kulak, Hande; Kıranatlıoğlu, Kübra; Baysal, Kübra; Kazımlı, Ulviyya; Akalın, Hilal; Dündar, Ayca; Boz, Mehmet; Bayram, Arslan; Subaşıoğlu, Aslı; Kurt Çolak, Fatma; Karaduman, Neslihan; Cerrah Güneş, Meltem; Kandemir, Nefise; Aynekin, Büşra; Emekli, Rabia; Şahin, İzem Olcay; Özdemir, Sevda Yeşim; Önal, Müge Gülcihan; Şenel, Abdurrahman Soner; Poyrazoğlu, Muammer Hakan; Paç Kısaarslan, Ayşe Nur; Gürsoy, Şebnem; Başkol, Mevlüt; Çalış, Mustafa; Demir, Hüseyin; Ertürk Zararsız, Gözde; Özdemir Erdoğan, Müjgan; Elmas, Muhsin; Solak, Mustafa; Ulu, Memnune Sena; Thahir, Adam; Aydın, Zafer; Atasever, Umut; Özemri Sağ, Şebnem; Aliyeva, Lamiya; Alemdar, Adem; Doğan, Berkcan; Örneki Ergüzeloğlu, Cemre; Kaya, Niyazi; Özkınay, Ferda; Çoğulu, Özgür; Durmaz, Asude; Onay, Hüseyin; Karaca, Emin; Durmaz, Burak; Aykut, Ayca; Çilingir, Oğuz; Durak Aras, Beyhan; Erzurumluoğlu Gökalp, Ebru; Arslan, Serap; Temena, Arda; Haziyeva, Konul; Kocagil, Sinem; Baş, Hasan; Susam, Ezgi; Keklikci, Ali Rıza; Saraç, Elif; Koçak, Nadir; Nergiz, Süleyman; Terzi, Yunus Kasım; Akad Dinçer, Selin; Baskın, Esra Sıdıka; Çakmak Genç, Güneş; Bahadır, Oğuzhan; Sanrı, Aslıhan; Yiğit, Serbülent; Tozkir, Hilmi; Yalçıntepe, Sinem; Özkayın, Neşe; Kiraz, Aslıhan; Balta, Burhan; Akıncı Gönen, Gizem; Kurt, E. Emre; Güleç Ceylan, Gülay; Ceylan, Ahmet Cevdet; Erten, Şükran; Tuğ Bozdoğan, Sevcan; Boğa, İbrahim; Yılmaz, Mustafa; Silan, Fatma; Kocabey, Mehmet; Koç, Altuğ; Cankaya, Tufan; Bora, Elçin; Giray Bozkaya, Özlem; Ercal, Derya; Ergun, Mehmet Ali; Güntekin Ergun, Sezen; Sidar Duman, Yeşim; Beyazıt, Şerife Büşra; Uzel, Veysiye Hülya; Em, Serda; Çevik, Muhammer Özgür; Eroz, Recep; Demirtaş, Mercan; Fırat, Cem Koray; Manav Kabayeğit, Zehra; Altan, Mustafa; Mardan, Lamiya; Sayar, Ceyhan; Tümer, Sait; Türkgenç, Burcu; Keskin Karakoyun, Hilal; Tunç, Betül; Kuru, Seda; Zamani, Ayşegül; Geçkinli, Bilgen Bilge; Arslan Ateş, Esra; Altıok Clark, Özden; Toylu, Aslı; Coşkun, Mert; Nur, Banu; Bilge, Ilmay; Uygur Bayramicli, Oya; Emmungil, Hakan; Komesli, Zeynep; Zeybel, Müjdat; Gürakan, Figen; Taşdemir, Mehmet; Kebudi, Rejin; Karabulut, Halil Gürhan; Tuncali, Timur; Yürür Kutlay, Nüket; Yüce Kahraman, Çiğdem; Bahçeciler Önder, Nerin; Beyitler, İlke; Kavukçu, Salih; Tülay, Pınar; Tosun, Özgür; Tuncel, Gülten; Mocan, Gamze; Kale, Hamdi; Uyguner, Zehra Oya; Acar, Aynur; Altınay, Mert; Erdem, Levent (Springer Science and Business Media Deutschland GmbH, 2022)Familial Mediterranean fever (FMF) is a monogenic autoinfammatory disorder with recurrent fever, abdominal pain, serositis, articular manifestations, erysipelas-like erythema, and renal complications as its main features. ... -
Evaluation of cytogenetic and y chromosome microdeletion analyzes in infertile cases
Değirmenci, Banu; Solak, Mustafa; Yıldız, Saliha Handan; Özdemir Erdoğan, Müjgan; Elmas, Muhsin; Fıstık, Tevhide (Elsevier Science Bv, 2019)Objective: The aim of our study is to determine the frequency of chromosome abnormalities and Y chromosome microdeletions which are the causes of primary infertility, in Afyonkarahisar. Materials and methods: Cytogenetic ... -
A female case of 5,10-methenyltetrahydrofolate synthetase deficiency with novel neuro-imaging abnormalities
Çavuşoğlu, Dilek; Köse, Melis; Er, Esra; Elmas, Muhsin; Gençpınar, Pınar; Olgaç Dündar, Nihal; Aydın, Kürşad (Elsevier, 06.06.2022)Background Folate metabolism disorders can affect various organ systems, including the nervous system. 5,10-methenyltetrahydrofolate synthetase deficiency is a rare cerebral folate deficiency in which MTHFS activity is ... -
Neurodevelopment and Genetic Evaluation of Sotos Syndrome Cases with a Novel Mutation: a Single‑Center Experience
Elmas, Muhsin; Göğüş, Başak; Değirmenci, Banu; Gezdirici, Alper; Solak, Mustafa (Springer, 12.08.2021)Sotos syndrome is a non-progressive neurological disease with overgrowing, increased bone age, and developmental retardation. The aim of this study is to evaluate the prenatal, natal, and postnatal clinical fndings of ... -
Success of Face Analysis Technology in Rare Genetic Diseases Diagnosed by Whole-Exome Sequencing: A Single-Center Experience
Elmas, Muhsin; Göğüş, Başak (Karger, 2020)The diagnosis of rare genetic diseases is one of the most difficult areas in medicine. Whole-exome sequencing (WES) technology makes it easier to diagnose these diseases. In addition, next-generation phenotyping can help ... -
Understanding What You Have Found: A Family With a Mutation in the LAMA1 Gene With Literature Review
Elmas, Muhsin; Göğüş, Başak; Solak, Mustafa (Sage Publications Ltd, 2020)INTRODUCTION: Cerebellar dysplasia with cysts (CDC) is an imaging finding which is typically seen with in individuals with dystroglycanopathy. One of the diseases causing this condition is "Poretti-Boltshauser Syndrome; ...