檢索結果 - Kaymakcalan, Hande

A rare etiology of tetralogy of Fallot with pulmonary atresia: Renpenning syndrome 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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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