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REAL-LIFE DATA COMPARING THE LONG-TERM OUTCOME AND TREATMENT IN ADULT AND PEDIATRIC DADA2 PATIENTS: SINGLE CENTER EXPERIENCE OVER 10 YEARS 真实世界数据比较成人和儿科DADA2患者长期预后及治疗：10年单中心经验 Ayan, G.; Basaran, O.; Bolek, E. C.; Firlatan, B.; Bulat, B.; Batu, E. D.; Kalyoncu, U.; Kiraz, S.; Ertenli, A. I.; Alikasifoglu, M.; Bilginer, Y.; Ozen, S.; Karadag, O. 分享 收藏
FXR1-related congenital myopathy: expansion of the clinical and genetic spectrum Mroczek, Magdalena; Longman, Cheryl; Farrugia, Maria Elena; Garcia, Solange Kapetanovic; Ardicli, Didem; Topaloglu, Haluk; Hernandez-Lain, Aurelio; Orhan, Diclehan; Alikasifoglu, Mehmet; Duff, Jennifer; Specht, Sabine; Nowak, Kristen; Ravenscroft, Gianina; Chao, Katherine; Valivullah, Zaheer; Donkervoort, Sandra; Saade, Dimah; Bonnemann, Carsten; Straub, Volker; Yoon, Grace 分享 收藏
Interaction between Dietary Fat Intake and Metabolic Genetic Risk Score on 25-Hydroxyvitamin D Concentrations in a Turkish Adult Population Isgin-Atici, Kubra; Alathari, Buthaina E.; Turan-Demirci, Busra; Sendur, Suleyman Nahit; Lay, Incilay; Ellahi, Basma; Alikasifoglu, Mehmet; Erbas, Tomris; Buyuktuncer, Zehra; Vimaleswaran, Karani Santhanakrishnan 分享 收藏
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Novel insights into diabetes mellitus due toDNAJC3-defect: Evolution of neurological and endocrine phenotype in the pediatric age group Ozon, Z. Alev; Alikasifoglu, Ayfer; Kandemir, Nurgun; Aydin, Busra; Gonc, E. Nazli; Karaosmanoglu, Beren; Celik, Nur Berna; Eroglu-Ertugrul, Nesibe G.; Taskiran, Ekim Z.; Haliloglu, Goknur; Oguz, Kader Karli; Kiper, Pelin Ozlem; Yalnizoglu, Dilek; Utine, Gulen Eda; Alikasifoglu, Mehmet 分享 收藏
FTOgene-lifestyle interactions on serum adiponectin concentrations and central obesity in a Turkish population Isgin-Atici, Kubra; Alsulami, Sooad; Turan-Demirci, Busra; Surendran, Shelini; Sendur, Suleyman Nahit; Lay, Incilay; Karabulut, Erdem; Ellahi, Basma; Lovegrove, Julie A.; Alikasifoglu, Mehmet; Erbas, Tomris; Vimaleswaran, Karani Santhanakrishnan; Buyuktuncer, Zehra 分享 收藏
Genetic IGF1R defects: new cases expand the spectrum of clinical features Gonc, E. N.; Ozon, Z. A.; Oguz, S.; Kabacam, S.; Taskiran, E. Z.; Kiper, P. O. S.; Utine, G. E.; Alikasifoglu, A.; Kandemir, N.; Boduroglu, O. K.; Alikasifoglu, M. 分享 收藏
The Correlation Between Clinical Characteristics and Molecular Genetic Analysis Results of Primary Ciliary Dyskinesia Patients: Hacettepe University Experience Emiralioglu, Nagehan; Taskiran, Ekim; Kosukcu, Can; Bilgic, Elif; Atilla, Pergin; Kaya, Bengisu; Gunaydin, Onder; Yuzbasioglu, Ayse; Tugcu, Gokcen Dilsa; Ademhan, Dilber; Polat, Sanem Eryilmaz; Hizal, Mina Gharibzadeh; Yalcm, Ebru; Dogru, Deniz; Kiper, Nural; Alikasifoglu, Mehmet; Ozcelik, Ugur 分享 收藏
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Impact of Fat Mass and Obesity Associated (FTO) Gene Variants and Lifestyle Factors on Obesity Traits in A Turkish Population Alsulami, S.; Isgin-Atici, K.; Turan-Demirci, B.; Surendran, S.; Sendur, S. N.; Lay, I.; Karabulut, E.; Ellahi, B.; Lovegrove; Alikasifoglu, M.; Erbas, T.; Karani, V. S.; Buyuktuncer, Z. 分享 收藏
Paralog Studies Augment Gene Discovery: DDX and DHX Genes Paine, Ingrid; Posey, Jennifer E.; Grochowski, Christopher M.; Jhangiani, Shalini N.; Rosenheck, Sarah; Kleyner, Robert; Marmorale, Taylor; Yoon, Margaret; Wang, Kai; Robison, Reid; Cappuccio, Gerarda; Pinelli, Michele; Magli, Adriano; Akdemir, Zeynep Coban; Hui, Joannie; Yeung, Wai Lan; Wong, Bibiana K. Y.; Ortega, Lucia; Bekheirnia, Mir Reza; Bierhals, Tatjana; Hempel, Maja; Johannsen, Jessika; Santer, Rene; Aktas, Dilek; Alikasifoglu, Mehmet; Bozdogan, Sevcan; Aydin, Hatip; Karaca, Ender; Bayram, Yavuz; Ityel, Hadas; Dorschner, Michael; White, Janson J.; Wilichowski, Ekkehard; Wortmann, Saskia B.; Casella, Erasmo B.; Kitajima, Joao Paulo; Kok, Fernando; Monteiro, Fabiola; Muzny, Donna M.; Bamshad, Michael; Gibbs, Richard A.; Sutton, V. Reid; Van Esch, Hilde; Brunetti-Pierri, Nicola; Hildebrandt, Friedhelm; Brautbar, Ariel; Van den Veyver, Ignatia B.; Glass, Ian; Lessel, Davor; Lyon, Gholson J.; Lupski, James R. 分享 收藏
A Novel Missense LIG4 Mutation in a Patient With a Phenotype Mimicking Behcet's Disease 具有模仿白塞病的表型的患者中的新型错义LIG4突变 Taskiran, Ekim Z.; Sonmez, Hafize E.; Kosukcu, Can; Tavukcuoglu, Ece; Yazici, Gozde; Esendagli, Gunes; Batu, Ezgi D.; Kiper, Pelin O. S.; Bilginer, Yelda; Alikasifoglu, Mehmet; Ozen, Seza 分享 收藏
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Whole Exome Sequencing in Early-onset Systemic Lupus Erythematosus 全外显子组测序在早发性系统性红斑狼疮中的应用 Batu, Ezgi Deniz; Kosukcu, Can; Taskiran, Ekim; Sahin, Sezgin; Akman, Sema; Sozeri, Betul; Unsal, Erbil; Bilginer, Yelda; Kasapcopur, Ozgur; Alikasifoglu, Mehmet; Ozen, Seza 分享 收藏
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Preliminary Results of Whole Exome Sequencing in Turkish Primary Ciliary Dyskinesia Patients - Hacettepe University Experience: Three candidate genes, five novel and two known mutations Emiralioglu, Nagehan; Taskiran, Ekim; Kocukcu, Can; Tugcu, Gokcen; Esref, Sanem; Hizal, Mina; Yalcin, Ebru; Dogru, Deniz; Kiper, Nural; Alikasifoglu, Mehmet; Ozcelik, Ugur 分享 收藏
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