Resultats de la cerca - Kaymakcalan, Hande

A rare etiology of tetralogy of Fallot with pulmonary atresia: Renpenning syndrome per Kaymakçalan, Hande, Ercan-Şençiçek, A. Gülhan, Cebeci, Ayşe Nurcan, Dong, Weilai, Yalçın, Ali Seyfi Yalım

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Clinical and Genomic Characterization of Distal Duplications and Deletions of Chromosome 4q: Study of Two Cases and Review of the Literature per Rossi, Michael R., DiMaio, Miriam S., Xiang, Bixia, Lu, Kangmo, Kaymakcalan, Hande, Seashore, Margretta, Mahoney, Maurice J., Li, Peining

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Mutation spectrum of congenital heart disease in a consanguineous Turkish population per Dong, Weilai, Kaymakcalan, Hande, Jin, Sheng Chih, Diab, Nicholas S., Tanıdır, Cansaran, Yalcin, Ali Seyfi Yalim, Ercan‐Sencicek, A. Gulhan, Mane, Shrikant, Gunel, Murat, Lifton, Richard P., Bilguvar, Kaya, Brueckner, Martina

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ALPK3 gene mutation in a patient with congenital cardiomyopathy and dysmorphic features per Çağlayan, Ahmet Okay, Sezer, Rabia Gonul, Kaymakçalan, Hande, Ulgen, Ege, Yavuz, Taner, Baranoski, Jacob F., Bozaykut, Abdulkadir, Harmanci, Akdes Serin, Yalcin, Yalim, Youngblood, Mark W., Yasuno, Katsuhito, Bilgüvar, Kaya, Gunel, Murat

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Prevalence and clinical/molecular characteristics of PTEN mutations in Turkish children with autism spectrum disorders and macrocephaly per Kaymakcalan, Hande, Kaya, İlyas, Cevher Binici, Nagihan, Nikerel, Emrah, Özbaran, Burcu, Görkem Aksoy, Mehmet, Erbilgin, Seda, Özyurt, Gonca, Jahan, Noor, Çelik, Didem, Yararbaş, Kanay, Yalçınkaya, Leyla, Köse, Sezen, Durak, Sibel, Ercan‐Sencicek, Adife Gulhan

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Mutations in LAMB1 Cause Cobblestone Brain Malformation without Muscular or Ocular Abnormalities per Radmanesh, Farid, Caglayan, Ahmet Okay, Silhavy, Jennifer L., Yilmaz, Cahide, Cantagrel, Vincent, Omar, Tarek, Rosti, Başak, Kaymakcalan, Hande, Gabriel, Stacey, Li, Mingfeng, Šestan, Nenad, Bilguvar, Kaya, Dobyns, William B., Zaki, Maha S., Gunel, Murat, Gleeson, Joseph G.

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NGLY1 Mutation Causes Neuromotor Impairment, Intellectual Disability, and Neuropathy per Caglayan, Ahmet Okay, Comu, Sinan, Baranoski, Jacob F., Parman, Yesim, Kaymakçalan, Hande, Akgumus, Gozde Tugce, Caglar, Caner, Dolen, Duygu, Omay, E. Zeynep Erson, Harmanci, Akdes Serin, Mishra, Ketu, Freeze, Hudson H., Yasuno, Katsuhito, Bilguvar, Kaya, Gunel, Murat

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Expanding the Genotypic Spectrum of Bathing Suit Ichthyosis per Marukian, Nareh V., Hu, Rong-Hua, Craiglow, Brittany G., Milstone, Leonard M., Zhou, Jing, Theos, Amy, Kaymakcalan, Hande, Akkaya, Deniz A., Uitto, Jouni J., Vahidnezhad, Hassan, Youssefian, Leila, Bayliss, Susan J., Paller, Amy S., Boyden, Lynn M., Choate, Keith A.

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Biallelic Mutations in Citron Kinase Link Mitotic Cytokinesis to Human Primary Microcephaly per Li, Hongda, Bielas, Stephanie L., Zaki, Maha S., Ismail, Samira, Farfara, Dorit, Um, Kyongmi, Rosti, Rasim O., Scott, Eric C., Tu, Shu, Chi, Neil C., Gabriel, Stacey, Erson-Omay, Emine Z., Ercan-Sencicek, A. Gulhan, Yasuno, Katsuhito, Çağlayan, Ahmet Okay, Kaymakçalan, Hande, Ekici, Barış, Bilguvar, Kaya, Gunel, Murat, Gleeson, Joseph G.

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Recessive LAMC3 mutations cause malformations of occipital cortical development per Barak, Tanyeri, Kwan, Kenneth Y, Louvi, Angeliki, Demirbilek, Veysi, Saygı, Serap, Tüysüz, Beyhan, Choi, Murim, Boyacı, Hüseyin, Doerschner, Katja, Zhu, Ying, Kaymakçalan, Hande, Yılmaz, Saliha, Bakırcıoğlu, Mehmet, Çağlayan, Ahmet Okay, Öztürk, Ali Kemal, Yasuno, Katsuhito, Brunken, William J, Atalar, Ergin, Yalçınkaya, Cengiz, Dinçer, Alp, Bronen, Richard A, Mane, Shrikant, Özçelik, Tayfun, Lifton, Richard P, Šestan, Nenad, Bilgüvar, Kaya, Günel, Murat

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Brain Malformations Associated with Knobloch Syndrome – Review of Literature, Expanding Clinical Spectrum and Identification of Novel Mutations per Caglayan, Ahmet Okay, Baranoski, Jacob F., Aktar, Fesih, Han, Wengi, Tuysuz, Beyhan, Guzel, Aslan, Guclu, Bulent, Kaymakcalan, Hande, Aktekin, Berrin, Akgumus, Gozde Tugce, Murray, Phillip B., Omay, E. Zeynep Erson, Caglar, Caner, Bakircioglu, Mehmet, Sakalar, Yildirim Bayezit, Guzel, Ebru, Demir, Nihat, Tuncer, Oguz, Senturk, Senem, Ekici, Baris, Minja, Frank J., Šestan, Nenad, Yasuno, Katsuhito, Bilguvar, Kaya, Caksen, Huseyin, Gunel, Murat

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Whole exome sequencing identifies recessive WDR62 mutations in severe brain malformations per Bilgüvar, Kaya, Öztürk, Ali Kemal, Louvi, Angeliki, Kwan, Kenneth Y, Choi, Murim, Tatli, Burak, Yalnizoğlu, Dilek, Tüysüz, Beyhan, Çağlayan, Ahmet Okay, Gökben, Sarenur, Kaymakçalan, Hande, Barak, Tanyeri, Bakircioğlu, Mehmet, Yasuno, Katsuhito, Ho, Winson, Sanders, Stephan, Zhu, Ying, Yilmaz, Sanem, Dinçer, Alp, Johnson, Michele H, Bronen, Richard A, Koçer, Naci, Per, Hüseyin, Mane, Shrikant, Pamir, Mehmet Necmettin, Yalçinkaya, Cengiz, Kumandaş, Sefer, Topçu, Meral, Özmen, Meral, Šestan, Nenad, Lifton, Richard P, State, Matthew W, Günel, Murat

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Genomic analysis of non-NF2 meningiomas reveals mutations in TRAF7, KLF4, AKT1, and SMO per Clark, Victoria E., Erson-Omay, E. Zeynep, Serin, Akdes, Yin, Jun, Cotney, Justin, Özduman, Koray, Avşar, Timuçin, Li, Jie, Murray, Phillip B., Henegariu, Octavian, Yilmaz, Saliha, Günel, Jennifer Moliterno, Carrión-Grant, Geneive, Yılmaz, Baran, Grady, Conor, Tanrıkulu, Bahattin, Bakırcıoğlu, Mehmet, Kaymakçalan, Hande, Caglayan, Ahmet Okay, Sencar, Leman, Ceyhun, Emre, Atik, A. Fatih, Bayri, Yaşar, Bai, Hanwen, Kolb, Luis E., Hebert, Ryan, Omay, S. Bulent, Mishra-Gorur, Ketu, Choi, Murim, Overton, John D., Holland, Eric C., Mane, Shrikant, State, Matthew W., Bilgüvar, Kaya, Baehring, Joachim M., Gutin, Philip H., Piepmeier, Joseph M., Vortmeyer, Alexander, Brennan, Cameron W., Pamir, M. Necmettin, Kılıç, Türker, Lifton, Richard P., Noonan, James P., Yasuno, Katsuhito, Günel, Murat

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Bi-allelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 over-activity and disordered cortical neuronal migration per Schaffer, Ashleigh E., Breuss, Martin W., Caglayan, Ahmet Okay, Al-Sanaa, Nouriya, Al-Abdulwahed, Hind Y., Kaymakçalan, Hande, Yılmaz, Cahide, Zaki, Maha S., Rosti, Rasim O., Copeland, Brett, Baek, Seung Tae, Musaev, Damir, Scott, Eric C., Ben-Omran, Tawfeg, Kariminejad, Ariana, Kayserili, Hulya, Mojahedi, Faezeh, Kara, Majdi, Cai, Na, Silhavy, Jennifer L., Elsharif, Seham, Fenercioglu, Elif, Barshop, Bruce A., Kara, Bulent, Wang, Rengang, Stanley, Valentina, James, Kiely N., Nachnani, Rahul, Kalur, Aneesha, Megahed, Hisham, Incecik, Faruk, Danda, Sumita, Alanay, Yasemin, Faqeih, Eissa, Melikishvili, Gia, Mansour, Lobna, Miller, Ian, Sukhudyan, Biayna, Chelly, Jamel, Dobyns, William B., Bilguvar, Kaya, Jamra, Rami Abou, Gunel, Murat, Gleeson, Joseph G.

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