Whole exome sequencing in unclassified autoinflammatory diseases: more monogenic diseases in the pipeline? von Kosukcu, Can, Taskiran, Ekim Z, Batu, Ezgi Deniz, Sag, Erdal, Bilginer, Yelda, Alikasifoglu, Mehmet, Ozen, Seza

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Mutations in the Gene Encoding the RER Protein FKBP65 Cause Autosomal-Recessive Osteogenesis Imperfecta von Alanay, Yasemin, Avaygan, Hrispima, Camacho, Natalia, Utine, G. Eda, Boduroglu, Koray, Aktas, Dilek, Alikasifoglu, Mehmet, Tuncbilek, Ergul, Orhan, Diclehan, Bakar, Filiz Tiker, Zabel, Bernard, Superti-Furga, Andrea, Bruckner-Tuderman, Leena, Curry, Cindy J.R., Pyott, Shawna, Byers, Peter H., Eyre, David R., Baldridge, Dustin, Lee, Brendan, Merrill, Amy E., Davis, Elaine C., Cohn, Daniel H., Akarsu, Nurten, Krakow, Deborah

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Genotype and phenotype evaluation of patients with primary ciliary dyskinesia: First results from Turkey von Emiralioğlu, Nagehan, Taşkıran, Ekim Z., Koşukcu, Can, Bilgiç, Elif, Atilla, Pergin, Kaya, Bengisu, Günaydın, Önder, Yüzbaşıoğlu, Ayşe, Tuğcu, Gökçen Dilşa, Ademhan, Dilber, Eryılmaz Polat, Sanem, Gharibzadeh Hızal, Mina, Yalçın, Ebru, Doğru, Deniz, Kiper, Nural, Alikaşifoğlu, Mehmet, Özçelik, Uğur

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Poikiloderma with Neutropenia, Clericuzio-Type Accompanied by Loss of Digits Due to Severe Osteomyelitis von Akdogan, Neslihan, Kindis, Erdem, Bostan, Ecem, Utine, Eda, Alikasifoglu, Mehmet, Ersoy-Evans, Sibel

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Ex vivo disease modelling of Rett syndrome: the transcriptomic and metabolomic implications of direct neuronal conversion von Karaosmanoglu, Beren, Imren, Gozde, Ozisin, M. Samil, Reçber, Tuba, Simsek Kiper, Pelin Ozlem, Haliloglu, Goknur, Alikaşifoğlu, Mehmet, Nemutlu, Emirhan, Taskiran, Ekim Z., Utine, Gulen Eda

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Investigation of Genetic Causes in a Developmental Disorder: Oculoauriculovertebral Spectrum von Güleray, Naz, Koşukcu, Can, Oğuz, Sümeyra, Ürel Demir, Gizem, Taşkıran, Ekim Z., Kiper, Pelin Özlem Şimşek, Utine, Gülen Eda, Alanay, Yasemin, Boduroğlu, Koray, Alikaşifoğlu, Mehmet

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Interaction between Dietary Fat Intake and Metabolic Genetic Risk Score on 25-Hydroxyvitamin D Concentrations in a Turkish Adult Population von 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

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A Homozygous Deletion in GRID2 Causes a Human Phenotype With Cerebellar Ataxia and Atrophy von Utine, G. Eda, Haliloğlu, Göknur, Salancı, Bilge, Çetinkaya, Arda, Kiper, P. Özlem, Alanay, Yasemin, Aktaş, Dilek, Boduroğlu, Koray, Alikaşifoğlu, Mehmet

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Disruption of ALX1 Causes Extreme Microphthalmia and Severe Facial Clefting: Expanding the Spectrum of Autosomal-Recessive ALX-Related Frontonasal Dysplasia von Uz, Elif, Alanay, Yasemin, Aktas, Dilek, Vargel, Ibrahim, Gucer, Safak, Tuncbilek, Gokhan, von Eggeling, Ferdinand, Yilmaz, Engin, Deren, Ozgur, Posorski, Nicole, Ozdag, Hilal, Liehr, Thomas, Balci, Sevim, Alikasifoglu, Mehmet, Wollnik, Bernd, Akarsu, Nurten A.

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Further expanding the mutational spectrum of brain abnormalities, neurodegeneration, and dysosteosclerosis: A rare disorder with neurologic regression and skeletal features von Kındış, Erdem, Simsek‐Kiper, Pelin Özlem, Koşukcu, Can, Taşkıran, Ekim Z., Göçmen, Rahşan, Utine, Eda, Haliloğlu, Göknur, Boduroğlu, Koray, Alikaşifoğlu, Mehmet

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Association of LOXL1 gene polymorphisms with exfoliation syndrome/glaucoma and primary open angle glaucoma in a Turkish population von Kasım, Burcu, İrkeç, Murat, Alikaşifoğlu, Mehmet, Orhan, Mehmet, Mocan, Mehmet Cem, Aktaş, Dilek

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Serum PON-1 Activity but not Q192R Polymorphism is Related to the Extent of Atherosclerosis von Bayrak, Ahmet, Bayrak, Tülin, Tokgözoglu, S Lale, Volkan-Salanci, Bilge, Deniz, Ali, Yavuz, Bünyamin, Alikasifoglu, Mehmet, Demirpençe, Ediz

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Genetic testing for DADA2: How can we avoid missing patients? von Sönmez, Hafize Emine, Batu, Ezgi Deniz, Taşkıran, Ekim Z, Alikaşifoğlu, Mehmet, Bilginer, Yelda, Özen, Seza

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HERC1 mutations in idiopathic intellectual disability von Utine, G. Eda, Taşkıran, Ekim Z, Koşukcu, Can, Karaosmanoğlu, Beren, Güleray, Naz, Doğan, Özlem Akgün, Kiper, P. Özlem Şimşek, Boduroğlu, Koray, Alikaşifoğlu, Mehmet

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Methylene tetrahydrofolate reductase polymorphisms and homocysteine level in heart defects von Sahiner, Umit M, Alanay, Yasemin, Alehan, Dursun, Tuncbilek, Ergul, Alikasifoglu, Mehmet

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Genetic Variations in Attention Deficit Hyperactivity Disorder Subtypes and Treatment Resistant Cases von Unal, Dilek, Unal, Mehmet Fatih, Alikasifoglu, Mehmet, Cetinkaya, Arda

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Microdeletion of chromosome 1q21.3 in fraternal twins is associated with mental retardation, microcephaly, and epilepsy von Sonmez, Fatma Mujgan, Uctepe, Eyyup, Aktas, Dilek, Alikasifoglu, Mehmet

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Hypomorphic RAG1 defect in a child presented with pulmonary hemorrhage and digital necrosis von Taşkıran, Ekim Z., Sönmez, Hafize E., Ayvaz, Deniz Ç., Koşukcu, Can, Batu, Ezgi D., Esenboğa, Saliha, Topaloğlu, Rezan, Orhan, Diclehan, Bilginer, Yelda, Alikaşifoğlu, Mehmet, Özen, Seza, Tezcan, İlhan

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CYP1A1 polymorphism in adolescents with polycystic ovary syndrome von Akgül, Sinem, Derman, Orhan, Alikaşifoğlu, Mehmet, Aktaş, Dilek

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Further Phenotypic Delineation of Partial Trisomy 17q and Partial Monosomy 20q due to Rare t(17;20) von Ürel-Demir, Gizem, Akgün-Doğan, Özlem, Oğuz, Sümeyra, Güleray-Lafcı, Naz, Şimşek-Kiper, Pelin Özlem, Eda Utine, Gülen, Alikaşifoğlu, Mehmet, Boduroğlu, Koray

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